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Human Mutation|February 5, 2009
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsyCécile Saint-Martin, Grégory Gauvain, Georgeta Teodorescu, et al.
European Journal of Medical Genetics|August 17, 2021
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare diseaseKatharina Khuller, Gökhan Yigit, Carolina Martínez Grijalva, et al.
Neurogenetics|May 4, 2012
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genesClaudia Dufke, Nina Schlipf, Rebecca Schüle, et al.
Molecular Genetics and Metabolism|June 6, 2022
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)Andrea Gangfuß, Andreas Hentschel, Lorena Heil, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 20, 2007
Annonacin, a natural mitochondrial complex I inhibitor, causes tau pathology in cultured neuronsMyriam Escobar-Khondiker, Matthias Höllerhage, Marie-Paule Muriel, et al.
Journal of Medical Genetics|June 5, 2010
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndromeChristel Depienne, Oriane Trouillard, Isabelle Gourfinkel-An, et al.
American Journal of Human Genetics|March 19, 2019
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in FliesKevin C J Nixon, Justine Rousseau, Max H Stone, et al.
Brain : a Journal of Neurology|April 28, 2022
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onsetJoanne Trinh, Theresa Lüth, Susen Schaake, et al.
Brain & Development|June 5, 2018
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutationsPauline Marzin, Cyril Mignot, Nathalie Dorison, et al.
Neurology|June 30, 2012
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European populationAurélie Méneret, David Grabli, Christel Depienne, et al.
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