Showing results (21-30 of 117) with videos related to

Sort By:
Pageof 12
Journal of Neurology, Neurosurgery, and Psychiatry|March 12, 2014
Vestibular impairment in Charcot-Marie-Tooth disease type 4CHerminio Pérez-Garrigues, Rafael Sivera, Juan Jesús Vílchez, et al.
Clinical Genetics|November 23, 2023
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variantsJordi Pijuan, Alba Vilanova-Adell, Dídac Casas-Alba, et al.
Human Molecular Genetics|June 18, 2005
Frataxin interacts functionally with mitochondrial electron transport chain proteinsPilar González-Cabo, Rafael P Vázquez-Manrique, M Adelaida García-Gimeno, et al.
Experimental Neurology|July 5, 2019
Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1Sara Fernandez-Lizarbe, Azahara Civera-Tregón, Lara Cantarero, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|November 19, 2005
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutantRafael P Vázquez-Manrique, Pilar González-Cabo, Sheila Ros, et al.
Journal of the American Academy of Dermatology|January 17, 2004
Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophyJosé Bañuls, Rafael Botella, Francesc Palau, et al.
Disease Models & Mechanisms|April 16, 2016
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxiaBelén Mollá, Fátima Riveiro, Arantxa Bolinches-Amorós, et al.
European Journal of Medical Genetics|September 27, 2023
Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditionsDavid Ferri-Rufete, Aitor López-González, Dídac Casas-Alba, et al.
Brain : a Journal of Neurology|June 25, 2003
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 geneTeresa Sevilla, Ana Cuesta, María José Chumillas, et al.
Human Molecular Genetics|September 12, 2009
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathwayVincenzo Lupo, Máximo I Galindo, Dolores Martínez-Rubio, et al.
Pageof 12