Articles

• 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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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