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Neurobiology of Disease|March 10, 2005
PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusionsLouis-Philippe Corbeil-Girard, Arnaud F Klein, A Marie-Josée Sasseville, 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.Molecular Brain|April 15, 2017
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutationKarine Choquet, Sharon Yang, Robyn D Moir, et al.American Journal of Human Genetics|August 23, 2011
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophyGeneviève Bernard, Eliane Chouery, Maria Lisa Putorti, et al.Journal of Neuromuscular Diseases|April 19, 2021
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi MethodJeremy Slayter, Victoria Hodgkinson, Josh Lounsberry, et al.Journal of Neurology|June 16, 2024
An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX studyAlessandra Scaravilli, Ilaria Gabusi, Gaia Mari, et al.American Journal of Human Genetics|January 26, 2010
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophiesVéronique Bolduc, Gareth Marlow, Kym M Boycott, et al.Annals of Neurology|January 24, 2020
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French CanadiansDavid Pellerin, Asli Aykanat, Benjamin Ellezam, 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.Journal of the Neurological Sciences|November 21, 2024
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithmsGeorgios Koutsis, Chrisoula Kartanou, Zoi Kontogeorgiou, et al.Pageof 19