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The Lancet. Neurology|June 14, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisElisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, et al.
European Journal of Neurology|September 29, 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataractsAndrea Cortese, Riccardo Currò, Riccardo Ronco, et al.
Neurology. Genetics|January 31, 2018
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, et al.
Human Mutation|February 27, 2016
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial DiseaseLishuang Shen, Maria Angela Diroma, Michael Gonzalez, et al.
Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Brain : a Journal of Neurology|March 25, 2016
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth diseaseWilliam W Motley, Paulius Palaima, Sabrina W Yum, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
Ebiomedicine|March 21, 2024
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyRiwei Ouyang, Linlin Wan, David Pellerin, et al.
Plos Genetics|July 21, 2016
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Megan H Brewer, Rabia Chaudhry, Jessica Qi, et al.
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