Showing results (1-10 of 190) with videos related to
Sort By:
Pageof 19
Neurology. Genetics|June 6, 2024
TARDBP Mutations in Facial-Onset Sensory and Motor NeuronopathyVincent Picher-Martel, Suma Babu, Anthony A AmatoNeuromuscular Disorders : NMD|December 21, 2024
Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohortVincent Picher-Martel, Joseph J Locascio, Kathy Chuang, et al.Neurology. Genetics|May 1, 2023
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2Paloma Gonzalez-Perez, Eleonora S D'Ambrosio, Vincent Picher-Martel, et al.CNS & Neurological Disorders Drug Targets|April 21, 2018
Current and Promising Therapies in Autosomal Recessive AtaxiasVincent Picher-Martel, Nicolas DupreJournal of Child Neurology|April 14, 2020
The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the LiteratureVincent Picher-Martel, Francis Brunet, Nicolas Dupré, et al.Neuromuscular Disorders : NMD|July 26, 2020
SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotypeVincent Picher-Martel, Clément Morin, Denis Brunet, et al.Acta Neuropathologica Communications|July 20, 2019
Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementiaLaurence Renaud, Vincent Picher-Martel, Philippe Codron, et al.Molecular Neurobiology|November 1, 2018
Neuronal Expression of UBQLN2P497H Exacerbates TDP-43 Pathology in TDP-43G348C Mice through Interaction with UbiquitinVincent Picher-Martel, Laurence Renaud, Christine Bareil, et al.BMC Neurology|February 17, 2020
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case reportVincent Picher-Martel, Yvan Labrie, Serge Rivest, et al.Molecular Brain|November 2, 2015
Ubiquilin-2 drives NF-κB activity and cytosolic TDP-43 aggregation in neuronal cellsVincent Picher-Martel, Kallol Dutta, Daniel Phaneuf, et al.Pageof 19