Editorials
- Open AccessRating scales for rare neurological diseasesWhat are we learning from Friedreich ataxia?Massimo Pandolfo
Articles
- Open AccessEpilepsy with migrating focal seizuresKCNT1 mutation hotspots and phenotype variabilityGiulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, Monika Eisermann, Stéphanie Gobin-Limballe, Viorica Ciorna, Alfons Macaya, Laetitia Lambert, Fanny Dubois, Diane Doummar, Thierry Billette de Villemeur, Nathalie Villeneuve, Marie-Anne Barthez, Caroline Nava, Nathalie Boddaert, Anna Kaminska, Nadia Bahi-Buisson, Mathieu Milh, Stéphane Auvin, Jean-Paul Bonnefont, Rima Nabbout
- Open AccessMigraine polygenic risk score associates with efficacy of migraine-specific drugsLisette J.A. Kogelman, Ann-Louise Esserlind, Anne Francke Christensen, Swapnil Awasthi, Stephan Ripke, Andres Ingason, Olafur B. Davidsson, Christian Erikstrup, Henrik Hjalgrim, Henrik Ullum, Jes Olesen, Thomas Folkmann Hansen, DBDS Genomic Consortium, The International Headache Genetics Consortium
- Open AccessGNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularisJoseph M. Sliepka, Sarah C. McGriff, Linda Z. Rossetti, Peyman Bizargity, Haley Streff, Yi-Shan Lee, Hongzheng Dai, Satyamaanasa Polubothu, Grace Lee, Vicky Ren, Jill V. Hunter, Daniel J. Curry, Fernando Scaglia, Adekunle M. Adesina, Irfan Ali, Veronica Kinsler, Lindsay C. Burrage, Dana Marafi
- Open AccessYield of comparative genomic hybridization microarray in pediatric neurology practiceShibalik Misra, Greg Peters, Elizabeth Barnes, Simone Ardern-Holmes, Richard Webster, Christopher Troedson, Shekeeb S. Mohammad, Deepak Gill, Manoj Menezes, Sachin Gupta, Peter Procopis, Jayne Antony, Manju A. Kurian, Russell C. Dale
- Open AccessClinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variantsLaurence Gauquelin, Ferdy K. Cayami, László Sztriha, Grace Yoon, Luan T. Tran, Kether Guerrero, François Hocke, Rosalina M.L. van Spaendonk, Eva L. Fung, Stefano D'Arrigo, Gessica Vasco, Isabelle Thiffault, Dmitriy M. Niyazov, Richard Person, Kara Stuart Lewis, Evangeline Wassmer, Trine Prescott, Penny Fallon, Meriel McEntagart, Julia Rankin, Richard Webster, Heike Philippi, Bart van de Warrenburg, Dagmar Timmann, Abhijit Dixit, Claire Searle, DDD Study,, Nivedita Thakur, Michael C. Kruer, Suvasini Sharma, Adeline Vanderver, Davide Tonduti, Marjo S. van der Knaap, Enrico Bertini, Cyril Goizet, Sébastien Fribourg, Nicole I. Wolf, Geneviève Bernard
- Open AccessCNS manifestations in patients with telomere biology disordersSonia Bhala, Ana F. Best, Neelam Giri, Blanche P. Alter, Maryland Pao, Andrea Gropman, Eva H. Baker, Sharon A. Savage
- Open AccessPsychometric properties of the Friedreich Ataxia Rating ScaleChristian Rummey, Louise A. Corben, Martin B. Delatycki, S.H. Subramony, Khalaf Bushara, Christopher M. Gomez, Joseph Chad Hoyle, Grace Yoon, Bernard Ravina, Katherine D. Mathews, George Wilmot, Theresa Zesiewicz, Susan Perlman, Jennifer M. Farmer, David R. Lynch
- Open AccessMethylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicismStéphane Roche, Camille Dion, Natacha Broucqsault, Camille Laberthonnière, Marie-Cécile Gaillard, Jérôme D. Robin, Arnaud Lagarde, Francesca Puppo, Catherine Vovan, Charlene Chaix, Emmanuelle Salort Campana, Shahram Attarian, Marc Bartoli, Rafaelle Bernard, Karine Nguyen, Frédérique Magdinier
- Open AccessDefining and expanding the phenotype of QARS-associated developmental epileptic encephalopathyKatrine M. Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M. Ville, Nicolas Chatron, Eva Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L. Helbig, Andreas Merkenschlager, Rami Jamra, Anja Finck, Elena Gardella, Helle Hjalgrim, Ghayda Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R. Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaetan Lesca, Rikke S. Møller
- Open AccessSpastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALSMaria-Del-Mar Amador, François Muratet, Elisa Teyssou, Guillaume Banneau, Véronique Danel-Brunaud, Etienne Allart, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Mathieu Anheim, Gabrielle Rudolf, Christine Tranchant, Marie-Céline Fleury, Emilien Bernard, Giovanni Stevanin, Stéphanie Millecamps
- Open AccessIdentification of TYW3/CRYZ and FGD4 as susceptibility genes for amyotrophic lateral sclerosisLing Wei, Yanghua Tian, Yongping Chen, Qianqian Wei, Fangfang Chen, Bei Cao, Ying Wu, Bi Zhao, Xueping Chen, Chengjuan Xie, Chunhua Xi, Xu'en Yu, Juan Wang, Xinyi Lv, Jing Du, Yu Wang, Lu Shen, Xin Wang, Bin Shen, Qihao Guo, Li Guo, Kun Xia, Peng Xie, Xuejun Zhang, Xianbo Zuo, Huifang Shang, Kai Wang
- Open AccessCritical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disordersE. Robert Wassman, Karen S. Ho, Diana Bertrand, Kyle W. Davis, Megan M. Martin, Stephanie Page, Andreas Peiffer, Aparna Prasad, Moises A. Serrano, Hope Twede, Rena Vanzo, Stephen W. Scherer, Mohammed Uddin, Charles H. Hensel
Clinical/Scientific Notes
- Open AccessDeoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-IFederica Boso, Andrea Armirotti, Federica Taioli, Moreno Ferrarini, Lucilla Nobbio, Tiziana Cavallaro, Gian Maria Fabrizi
- Open AccessMyelopathy in a patient with leukodystrophy due to CSF1R mutationVictoria M. Ho, Dominic A. Hovsepian, Perry B. Shieh
- Open AccessGalloping tongue syndrome in a PRRT2 mutation carrierDolores Vilas, Anna Marcé-Grau, Alfons Macaya, Josep Valls-Solé, Eduard Tolosa
- Open AccessFurther supporting evidence for REEP1 phenotypic and allelic heterogeneityReza Maroofian, Mahdiyeh Behnam, Rauan Kaiyrzhanov, Vincenzo Salpietro, Mansour Salehi, Henry Houlden
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