Showing results (281-290 of 346) with videos related to
Sort By:
Pageof 35
Neurobiology of Aging|July 28, 2009
No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohortRoberto Del Bo, Stefania Corti, Domenico Santoro, et al.Journal of Human Genetics|November 18, 2011
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type IIIAmira Mili, Ilhem Ben Charfeddine, Ons Mamaï, et al.American Journal of Human Genetics|May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiencyAlessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.Brain : a Journal of Neurology|October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletionsDario Ronchi, Caterina Garone, Andreina Bordoni, et al.Neuromuscular Disorders : NMD|October 2, 2009
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophyKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.Muscle & Nerve|December 17, 2021
Characterization of patients with Becker muscular dystrophy by histology, magnetic resonance imaging, function, and strength assessmentsGiacomo P Comi, Erik H Niks, Claudia M Cinnante, et al.Human Mutation|February 20, 2013
Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer diseaseRachele Cagliani, Franca R Guerini, Raquel Rubio-Acero, et al.Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.Frontiers in Neurology|February 16, 2023
Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind studyGiacomo P Comi, Erik H Niks, Krista Vandenborne, et al.Parkinsonism & Related Disorders|April 8, 2020
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophyGiacomo Bitetto, Maria Chiara Malaguti, Roberto Ceravolo, et al.Pageof 35