Editorial
Articles
- Open AccessAnti-inflammatory effects of dietary vitamin D3 in patients with multiple sclerosisReza Hashemi, Mohammad Morshedi, Mohammad Asghari Jafarabadi, Davar Altafi, Seyed Saeed Hosseini-Asl, Seyed Rafie-Arefhosseini
- Open AccessNovel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutationsChanna 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
- Open AccessMolecular pathogenesis of human CD59 deficiencyNetanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B. Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach
- Open AccessDelineating FOXG1 syndromeFrom congenital microcephaly to hyperkinetic encephalopathyNancy 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
- Open AccessIdentification of a new SYT2 variant validates an unusual distal motor neuropathy phenotypeNataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P. Rebelo, Lisa Abreu, Stephan Zuchner, J. Troy Littleton, Mario A. Saporta
- Open AccessTPP2 mutation associated with sterile brain inflammation mimicking MSEva 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
- Open AccessRare genetic variation implicated in non-Hispanic white families with Alzheimer diseaseGary 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
- Open AccessMutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulationImen 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
- Open AccessAmyloid- and tau-PET imaging in a familial prion kindredDavid 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
- Open AccessCopy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPHVille 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
- Open AccessDuplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophyNaomi 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
- Open AccessAtrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypesSara 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
- Open AccessBrain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylationNam 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
- Open AccessAtaxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variantMaryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi
- Open AccessScreening of novel restless legs syndrome–associated genes in French-Canadian familiesFulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, Ziv Gan-Or, Patrick A. Dion, Guy A. Rouleau
- Open AccessDevelopment of a rapid functional assay that predicts GLUT1 disease severitySasha 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
- Open AccessLeigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMTDimitri M. Hemelsoet, Arnaud V. Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster
Clinical/Scientific Notes
- Open AccessHomozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxiaMaya Tojima, Gaku Murakami, Rie Hikawa, Hodaka Yamakado, Hirofumi Yamashita, Ryosuke Takahashi, Masaru Matsui
- Open AccessVariable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutationReem Deeb, Aravindhan Veerapandiyan, Rabi Tawil, Simona Treidler
- Open AccessA tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathyNicolas N. Madigan, Jennifer A. Tracy, William J. Litchy, Zhiyv Niu, Chunhua Chen, Kun Ling, Margherita Milone
- Open AccessLysosomal dysfunction in TMEM106B hypomyelinating leukodystrophyYoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan
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