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December 2018; 4 (6)

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  1. Abreu, Lisa

    1. Open Access
      Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
      Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P. Rebelo, Lisa Abreu, Stephan Zuchner, J. Troy Littleton, Mario A. Saporta

  2. Acou, Marjan

    1. Open Access
      Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
      Dimitri M. Hemelsoet, Arnaud V. Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster

  3. Ahram, Mamoun

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  4. Akçimen, Fulya

    1. Open Access
      Screening of novel restless legs syndrome–associated genes in French-Canadian families
      Fulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, Ziv Gan-Or, Patrick A. Dion, Guy A. Rouleau

  5. Altafi, Davar

    1. Open Access
      Anti-inflammatory effects of dietary vitamin D3 in patients with multiple sclerosis
      Reza Hashemi, Mohammad Morshedi, Mohammad Asghari Jafarabadi, Davar Altafi, Seyed Saeed Hosseini-Asl, Seyed Rafie-Arefhosseini

  6. An, Hyun Joo

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  7. Anderson, Christopher D.

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  8. Arpin, Stéphanie

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  9. Asghari Jafarabadi, Mohammad

    1. Open Access
      Anti-inflammatory effects of dietary vitamin D3 in patients with multiple sclerosis
      Reza Hashemi, Mohammad Morshedi, Mohammad Asghari Jafarabadi, Davar Altafi, Seyed Saeed Hosseini-Asl, Seyed Rafie-Arefhosseini

  10. Auvin, Stéphane

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  11. Avellan, Cecilia

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

B

  1. Bahi-Buisson, Nadia

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  2. Baird, Stephen

    1. Open Access
      Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
      Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan

  3. Bar, Céline

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  4. Barral, Sandra

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  5. Barreau, Pauline

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  6. Beauchamp, Nick J.

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  7. Beecham, Gary W.

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  8. Benjamin, Emelia J.

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  9. Berkovic, Samuel F.

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  10. Bery, Amandine

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  11. Bienvenu, Thierry

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  12. Blue, Elizabeth

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  13. Boddaert, Nathalie

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  14. Boerwinkle, Eric

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  15. Boespflug-Tanguy, Odile

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  16. Boeve, Bradley F.

    1. Open Access
      Amyloid- and tau-PET imaging in a familial prion kindred
      David T. Jones, Ryan A. Townley, Jonathan Graff-Radford, Hugo Botha, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Val J. Lowe, Bradley F. Boeve

  17. Botha, Hugo

    1. Open Access
      Amyloid- and tau-PET imaging in a familial prion kindred
      David T. Jones, Ryan A. Townley, Jonathan Graff-Radford, Hugo Botha, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Val J. Lowe, Bradley F. Boeve

  18. Boussaid, Karima

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  19. Bouyacoub, Yosra

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  20. Boycott, Kym M.

    1. Open Access
      Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
      Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan

  21. Bush, William

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

C

  1. Cances, Claude

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  2. Caubel, Isabelle

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  3. Cavallin, Mara

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  4. Chen, Chunhua

    1. Open Access
      A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
      Nicolas N. Madigan, Jennifer A. Tracy, William J. Litchy, Zhiyv Niu, Chunhua Chen, Kun Ling, Margherita Milone

  5. Choi, Seung Hoan

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  6. Cogné, Benjamin

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  7. Courel, Steve

    1. Open Access
      Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
      Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P. Rebelo, Lisa Abreu, Stephan Zuchner, J. Troy Littleton, Mario A. Saporta

  8. Coutts, Marcella

    1. Open Access
      Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
      Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P. Rebelo, Lisa Abreu, Stephan Zuchner, J. Troy Littleton, Mario A. Saporta

D

  1. Damiano, John

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  2. Datta, Alexandre

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  3. Davis, Mark

    1. Open Access
      Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
      Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

  4. de Bakker, Paul I. W.

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  5. Deeb, Reem

    1. Open Access
      Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation
      Reem Deeb, Aravindhan Veerapandiyan, Rabi Tawil, Simona Treidler

  6. DeStefano, Anita

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  7. Deutschländer, Angela

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  8. Dion, Patrick A.

    1. Open Access
      Screening of novel restless legs syndrome–associated genes in French-Canadian families
      Fulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, Ziv Gan-Or, Patrick A. Dion, Guy A. Rouleau

  9. Dionne-Laporte, Alexandre

    1. Open Access
      Screening of novel restless legs syndrome–associated genes in French-Canadian families
      Fulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, Ziv Gan-Or, Patrick A. Dion, Guy A. Rouleau

  10. Dorboz, Imen

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  11. Dumay-Odelot, Hélene

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  12. Dyment, David A.

    1. Open Access
      Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
      Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan

E

  1. Eide, Per Kristian

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  2. El-Khateeb, Mohammed

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  3. Ellinor, Patrick T.

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  4. Elmaleh- Bergès, Monique

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  5. Epplen, Jörg T.

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  6. Eriguchi, Makoto

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  7. Eshed-Eisenbach, Yael

    1. Open Access
      Molecular pathogenesis of human CD59 deficiency
      Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B. Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach

  8. Eymard-Pierre, Eleonore

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

F

  1. Farrer, Lindsay A.

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  2. Frantzen, Janek

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

G

  1. Gan-Or, Ziv

    1. Open Access
      Screening of novel restless legs syndrome–associated genes in French-Canadian families
      Fulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, Ziv Gan-Or, Patrick A. Dion, Guy A. Rouleau

  2. Gazina, Elena V.

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  3. Goate, Allison

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  4. Goethals, Ingeborg

    1. Open Access
      Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
      Dimitri M. Hemelsoet, Arnaud V. Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster

  5. Goullée, Hayley

    1. Open Access
      Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
      Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

  6. Graf, Elisabeth

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  7. Graff-Radford, Jonathan

    1. Open Access
      Amyloid- and tau-PET imaging in a familial prion kindred
      David T. Jones, Ryan A. Townley, Jonathan Graff-Radford, Hugo Botha, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Val J. Lowe, Bradley F. Boeve

  8. Guan, Zhuo

    1. Open Access
      Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
      Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P. Rebelo, Lisa Abreu, Stephan Zuchner, J. Troy Littleton, Mario A. Saporta

  9. Guerrot, Anne Marie

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

H

  1. Haan, Eric

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  2. Hadjivassiliou, Marios

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  3. Haines, Jonathan L.

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  4. Hamilton-Nelson, Kara

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  5. Hara, Hideo

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  6. Hartley, Taila

    1. Open Access
      Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
      Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan

  7. Hashemi, Reza

    1. Open Access
      Anti-inflammatory effects of dietary vitamin D3 in patients with multiple sclerosis
      Reza Hashemi, Mohammad Morshedi, Mohammad Asghari Jafarabadi, Davar Altafi, Seyed Saeed Hosseini-Asl, Seyed Rafie-Arefhosseini

  8. Hecker, Michael

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  9. Helisalmi, Seppo

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  10. Hemelsoet, Dimitri M.

    1. Open Access
      Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
      Dimitri M. Hemelsoet, Arnaud V. Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster

  11. Heron, Delphine

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  12. Hewamadduma, Channa A.

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  13. Hikawa, Rie

    1. Open Access
      Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia
      Maya Tojima, Gaku Murakami, Rie Hikawa, Hodaka Yamakado, Hirofumi Yamashita, Ryosuke Takahashi, Masaru Matsui

  14. Hildebrand, Michael S.

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  15. Hiltunen, Mikko

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  16. Hoffjan, Sabine

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  17. Hoggard, Nigel

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  18. Hoizman, Hila

    1. Open Access
      Molecular pathogenesis of human CD59 deficiency
      Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B. Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach

  19. Hotzy, Christoph

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  20. Hully, Marie

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

I

  1. Ikeuchi, Takeshi

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  2. Ishiguro, Takanobu

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  3. Isidor, Bertrand

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  4. Ito, Yoko

    1. Open Access
      Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
      Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan

J

  1. Jääskeläinen, Juha E.

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  2. Jack, Clifford R.

    1. Open Access
      Amyloid- and tau-PET imaging in a familial prion kindred
      David T. Jones, Ryan A. Townley, Jonathan Graff-Radford, Hugo Botha, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Val J. Lowe, Bradley F. Boeve

  3. Jaworski, James

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  4. Jmel, Haifa

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  5. Jokinen, Aleksi

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  6. Jokinen, Ilari

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  7. Jones, David T.

    1. Open Access
      Amyloid- and tau-PET imaging in a familial prion kindred
      David T. Jones, Ryan A. Townley, Jonathan Graff-Radford, Hugo Botha, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Val J. Lowe, Bradley F. Boeve

  8. Jones, Gabriel Davis

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  9. Junkkari, Antti

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

K

  1. Kang, Hoon-Chul

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  2. Karbian, Netanel

    1. Open Access
      Molecular pathogenesis of human CD59 deficiency
      Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B. Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach

  3. Kariminejad, Ariana

    1. Open Access
      Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
      Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

  4. Kasuga, Kensaku

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  5. Kato, Takeo

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  6. Kauppinen, Mikko

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  7. Kawajiri, Sumihiro

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  8. Keilani, Mohammad

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  9. Kernohan, Kristin D.

    1. Open Access
      Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
      Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan

  10. Kim, Dong-Seok

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  11. Kim, Heung Dong

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  12. Kim, Sangwoo

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  13. Kim, Se Hoon

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  14. Kim, Woo Kyeong

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  15. Kira, Jun-Ichi

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  16. Kittner, Steven J.

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  17. Knopman, David S.

    1. Open Access
      Amyloid- and tau-PET imaging in a familial prion kindred
      David T. Jones, Ryan A. Townley, Jonathan Graff-Radford, Hugo Botha, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Val J. Lowe, Bradley F. Boeve

  18. Koivisto, Anne M.

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  19. Komatsu, Kenichi

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  20. Konno, Takuya

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  21. Kopecky, Chantal

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  22. Korhonen, Ville E.

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  23. Kotkansalo, Anna

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  24. Kristoferitsch, Wolfgang

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  25. Kunkle, Brian

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  26. Kurki, Mitja

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

L

  1. Laing, Nigel

    1. Open Access
      Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
      Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

  2. Lassmann, Hans

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  3. Lazaro, Leila

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  4. Lee, Jeong Ho

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  5. Lehtola, Juha-Matti

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  6. Leinonen, Ville

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  7. Lerche, Holger

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  8. Lerman-Sagie, Tally

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  9. Leutmezer, Fritz

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  10. Lev, Dorit

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  11. Lill, Christina M.

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  12. Lim, Jae Seok

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  13. Ling, Kun

    1. Open Access
      A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
      Nicolas N. Madigan, Jennifer A. Tracy, William J. Litchy, Zhiyv Niu, Chunhua Chen, Kun Ling, Margherita Milone

  14. Litchy, William J.

    1. Open Access
      A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
      Nicolas N. Madigan, Jennifer A. Tracy, William J. Litchy, Zhiyv Niu, Chunhua Chen, Kun Ling, Margherita Milone

  15. Littleton, J. Troy

    1. Open Access
      Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
      Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P. Rebelo, Lisa Abreu, Stephan Zuchner, J. Troy Littleton, Mario A. Saporta

  16. Lönnrot, Kimmo

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  17. Lowe, Val J.

    1. Open Access
      Amyloid- and tau-PET imaging in a familial prion kindred
      David T. Jones, Ryan A. Townley, Jonathan Graff-Radford, Hugo Botha, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Val J. Lowe, Bradley F. Boeve

  18. Lubitz, Steven A.

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

M

  1. Madigan, Nicolas N.

    1. Open Access
      A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
      Nicolas N. Madigan, Jennifer A. Tracy, William J. Litchy, Zhiyv Niu, Chunhua Chen, Kun Ling, Margherita Milone

  2. Magalie, Barth

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  3. Maillard, Camille

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  4. Maljevic, Snezana

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  5. Martin, Eden R.

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  6. Martindale, Jo

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  7. Masurel, Alice

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  8. Matsui, Masaru

    1. Open Access
      Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia
      Maya Tojima, Gaku Murakami, Rie Hikawa, Hodaka Yamakado, Hirofumi Yamashita, Ryosuke Takahashi, Masaru Matsui

  9. Mayeux, Richard

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  10. McArdle, Patrick F.

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  11. McDermott, Christopher J.

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  12. Menten, Bjorn

    1. Open Access
      Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
      Dimitri M. Hemelsoet, Arnaud V. Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster

  13. Meuth, Sven G.

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  14. Mevorach, Dror

    1. Open Access
      Molecular pathogenesis of human CD59 deficiency
      Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B. Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach

  15. Mezaki, Naomi

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  16. Michot, Caroline

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  17. Mignot, Cyril

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  18. Milh, Mathieu

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  19. Milone, Margherita

    1. Open Access
      A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
      Nicolas N. Madigan, Jennifer A. Tracy, William J. Litchy, Zhiyv Niu, Chunhua Chen, Kun Ling, Margherita Milone

  20. Mitchell, Braxton D.

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  21. Miura, Takeshi

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  22. Mizuno, Yuri

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  23. Montes-Chinea, Nataly I.

    1. Open Access
      Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
      Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P. Rebelo, Lisa Abreu, Stephan Zuchner, J. Troy Littleton, Mario A. Saporta

  24. Morgan, B. Paul

    1. Open Access
      Molecular pathogenesis of human CD59 deficiency
      Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B. Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach

  25. Morshedi, Mohammad

    1. Open Access
      Anti-inflammatory effects of dietary vitamin D3 in patients with multiple sclerosis
      Reza Hashemi, Mohammad Morshedi, Mohammad Asghari Jafarabadi, Davar Altafi, Seyed Saeed Hosseini-Asl, Seyed Rafie-Arefhosseini

  26. Moslemi, Ali-Reza

    1. Open Access
      Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
      Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

  27. Moutton, Sébastien

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  28. Mullen, Saul A.

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  29. Murakami, Gaku

    1. Open Access
      Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia
      Maya Tojima, Gaku Murakami, Rie Hikawa, Hodaka Yamakado, Hirofumi Yamashita, Ryosuke Takahashi, Masaru Matsui

  30. Mustafa, Baha

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

N

  1. Naj, Adam

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  2. Niu, Zhiyv

    1. Open Access
      A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
      Nicolas N. Madigan, Jennifer A. Tracy, William J. Litchy, Zhiyv Niu, Chunhua Chen, Kun Ling, Margherita Milone

  3. Nizon, Mathilde

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  4. Nozaki, Hiroaki

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

O

  1. O'Malley, Ronan

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  2. Odent, Sylvie

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  3. Ogaki, Kotaro

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  4. Oinas, Minna

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  5. Okuma, Yasuyuki

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

  6. Olsson, Björn

    1. Open Access
      Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
      Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

  7. Onodera, Osamu

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

P

  1. Pedespan, Jean Michel

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  2. Peles, Elior

    1. Open Access
      Molecular pathogenesis of human CD59 deficiency
      Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B. Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach

  3. Pericak-Vance, Margaret A.

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  4. Petersen, Ronald C.

    1. Open Access
      Amyloid- and tau-PET imaging in a familial prion kindred
      David T. Jones, Ryan A. Townley, Jonathan Graff-Radford, Hugo Botha, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Val J. Lowe, Bradley F. Boeve

  5. Petrou, Steven

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  6. Petrovski, Slavé

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  7. Pferschy, Sandra

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  8. Philippe, Christophe

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  9. Phillips, A. Marie

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  10. Pontier, Benedicte

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  11. Poulat, Anne-Lise

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  12. Pulit, Sara L.

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  13. Pulst, Stefan M.

    1. Open Access
      The complex structure of ATXN2 genetic variation
      Stefan M. Pulst

R

  1. Rafie-Arefhosseini, Seyed

    1. Open Access
      Anti-inflammatory effects of dietary vitamin D3 in patients with multiple sclerosis
      Reza Hashemi, Mohammad Morshedi, Mohammad Asghari Jafarabadi, Davar Altafi, Seyed Saeed Hosseini-Asl, Seyed Rafie-Arefhosseini

  2. Rajabli, Farid

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  3. Rao, Ganesh

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  4. Rebelo, Adriana P.

    1. Open Access
      Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
      Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P. Rebelo, Lisa Abreu, Stephan Zuchner, J. Troy Littleton, Mario A. Saporta

  5. Reid, Christopher A.

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  6. Reinthaler, Eva M.

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  7. Reitz, Christiane

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  8. Remes, Anne M.

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  9. Renaldo, Florence

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  10. Rinne, Jaakko

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  11. Rivier, Francois

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  12. Robinson, Megan K.

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  13. Rodgers, Tobias

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  14. Rondeau, Stéphane

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  15. Ronkainen, Antti

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  16. Rosand, Jonathan

    1. Open Access
      Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
      Sara L. Pulit, Lu-Chen Weng, Patrick F. McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D. Mitchell, Jonathan Rosand, Paul I. W. de Bakker, Emelia J. Benjamin, Patrick T. Ellinor, Steven J. Kittner, Steven A. Lubitz, Christopher D. Anderson

  17. Rouleau, Guy A.

    1. Open Access
      Screening of novel restless legs syndrome–associated genes in French-Canadian families
      Fulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, Ziv Gan-Or, Patrick A. Dion, Guy A. Rouleau

  18. Rousselle, Christophe

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

S

  1. Sadovnick, A. Dessa

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  2. Saeed Hosseini-Asl, Seyed

    1. Open Access
      Anti-inflammatory effects of dietary vitamin D3 in patients with multiple sclerosis
      Reza Hashemi, Mohammad Morshedi, Mohammad Asghari Jafarabadi, Davar Altafi, Seyed Saeed Hosseini-Asl, Seyed Rafie-Arefhosseini

  3. Salari, Mehri

    1. Open Access
      Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
      Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

  4. Samaan, Simon

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  5. Sante, Tom

    1. Open Access
      Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
      Dimitri M. Hemelsoet, Arnaud V. Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster

  6. Saporta, Mario A.

    1. Open Access
      Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
      Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P. Rebelo, Lisa Abreu, Stephan Zuchner, J. Troy Littleton, Mario A. Saporta

  7. Sarrigiannis, Ptolemaios

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  8. Sato, Hidenori

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  9. Schaefer, Elise

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  10. Scheffer, Ingrid E.

    1. Open Access
      Development of a rapid functional assay that predicts GLUT1 disease severity
      Sasha M. Zaman, Saul A. Mullen, Slavé Petrovski, Snezana Maljevic, Elena V. Gazina, A. Marie Phillips, Gabriel Davis Jones, Michael S. Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G. Weber, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher A. Reid, Steven Petrou

  11. Schellenberg, Gerard

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  12. Schmied, Christiane

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  13. Schueler-Furman, Ora

    1. Open Access
      Molecular pathogenesis of human CD59 deficiency
      Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B. Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach

  14. Sedghi, Maryam

    1. Open Access
      Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
      Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

  15. Segamogaite, Ruta

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  16. Seneca, Sara

    1. Open Access
      Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
      Dimitri M. Hemelsoet, Arnaud V. Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster

  17. Seo, Youngsuk

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  18. Seshadri, Sudha

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  19. Shanmugarajah, Priya

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  20. Sharrack, Basil

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  21. Shaw, Pamela J.

    1. Open Access
      Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
      Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

  22. Sim, Nam Suk

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  23. Simons, Cas

    1. Open Access
      Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
      Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan

  24. Smet, Joél

    1. Open Access
      Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
      Dimitri M. Hemelsoet, Arnaud V. Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster

  25. Soininen, Hilkka

    1. Open Access
      Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
      Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E. Jääskeläinen, Anne M. Koivisto, Hidenori Sato, Takeo Kato, Anne M. Remes, Per Kristian Eide, Ville Leinonen

  26. Son, Hyeonju

    1. Open Access
      Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
      Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

  27. Spiegelman, Dan

    1. Open Access
      Screening of novel restless legs syndrome–associated genes in French-Canadian families
      Fulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, Ziv Gan-Or, Patrick A. Dion, Guy A. Rouleau

  28. Spitz, Marie-Aude

    1. Open Access
      Delineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathy
      Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson

  29. Strom, Tim

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M. Lill, Sabine Hoffjan, Jörg T. Epplen, Uwe K. Zettl, Michael Hecker, Angela Deutschländer, Sven G. Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A. Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich

  30. Suetsugi, Natsuki

    1. Open Access
      Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
      Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi

T

  1. Tabib, Adi

    1. Open Access
      Molecular pathogenesis of human CD59 deficiency
      Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B. Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach

  2. Tajsharghi, Homa

    1. Open Access
      Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
      Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

  3. Takahashi, Ryosuke

    1. Open Access
      Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia
      Maya Tojima, Gaku Murakami, Rie Hikawa, Hodaka Yamakado, Hirofumi Yamashita, Ryosuke Takahashi, Masaru Matsui

  4. Tawil, Rabi

    1. Open Access
      Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation
      Reem Deeb, Aravindhan Veerapandiyan, Rabi Tawil, Simona Treidler

  5. Teichmann, Martin

    1. Open Access
      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
      Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug-Tanguy

  6. Thornton, Timothy

    1. Open Access
      Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
      Gary W. Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R. Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A. Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L. Haines, Ellen Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, The Alzheimer's Disease Sequencing Project

  7. Tojima, Maya

    1. Open Access
      Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia
      Maya Tojima, Gaku Murakami, Rie Hikawa, Hodaka Yamakado, Hirofumi Yamashita, Ryosuke Takahashi, Masaru Matsui

  8. Tomkinson, Birgitta

    1. Open Access
      TPP2 mutation associated with sterile brain inflammation mimicking MS
      Eva M. Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy,