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Journal of Neurogenetics|November 27, 2024
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1Dora Varvara, Serena Lattante, Stefania Magri, et al.Experimental Neurology|September 24, 2008
Alpha-lipoic acid prevents mitochondrial damage and neurotoxicity in experimental chemotherapy neuropathyGiorgia Melli, Michela Taiana, Francesca Camozzi, et al.Free Radical Biology & Medicine|December 13, 2006
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcriptMansour Alemi, Alessandro Prigione, Alice Wong, et al.Journal of the Peripheral Nervous System : JPNS|December 17, 2016
A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-LomGiuseppe Piscosquito, Stefania Magri, Paola Saveri, et al.Neurogenetics|December 19, 2007
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosisCinzia Gellera, Claudia Colombrita, Nicola Ticozzi, et al.Journal of the Peripheral Nervous System : JPNS|August 21, 2020
Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth diseaseStefania Magri, Federica Rachele Danti, Francesca Balistreri, et al.Cerebellum (London, England)|August 23, 2024
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New CasesClaudia Ciaccio, Matilde Taddei, Chiara Pantaleoni, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|April 1, 2020
Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literatureChiara Benzoni, Domenico Aquino, Daniela Di Bella, et al.Journal of the Peripheral Nervous System : JPNS|August 27, 2015
Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutationsGiuseppe Piscosquito, Paola Saveri, Stefania Magri, et al.BMJ Case Reports|June 21, 2011
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern ItalyMaria Muglia, Giovanni Vazza, Alessandra Patitucci, et al.Pageof 18