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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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December 2018; 4 (6)

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Editorial

  • Open Access
    The complex structure of ATXN2 genetic variation
    Stefan M. Pulst
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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
    • Abstract
    • Full Text
    • Full Text (PDF)
  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
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  • 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
    • Abstract
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  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
    • Full Text
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  • 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
    • Abstract
    • Full Text
    • Full Text (PDF)
  • 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
    • Abstract
    • Full Text
    • Full Text (PDF)
  • 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
    • Abstract
    • Full Text
    • Full Text (PDF)
  • 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
    • Abstract
    • Full Text
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Clinical/Scientific Notes

  • 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
    • Full Text
    • Full Text (PDF)
  • 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
    • Full Text
    • Full Text (PDF)
  • 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
    • Full Text
    • Full Text (PDF)
  • 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
    • Full Text
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Correction

  • Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
    • Full Text
    • Full Text (PDF)
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