Showing results (121-130 of 197) with videos related to
Sort By:
Pageof 20
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 10, 2013
Cerebellum and neuropsychiatric disorders: insights from ARSACSAndrea Mignarri, Alessandra Tessa, Maria Alessandra Carluccio, et al.Annals of Human Genetics|April 14, 2020
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?Fabio Gotta, Merit Lamp, Alessandro Geroldi, et al.Biochemical and Biophysical Research Communications|October 10, 2007
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changesRoberta Biancheri, Antonio Falace, Alessandra Tessa, et al.International Journal of Molecular Sciences|December 9, 2023
Novel <i>COX11</i> Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and <i>Saccharomyces cerevisiae</i>Chenelle A Caron-Godon, Stefania Della Vecchia, Alessandro Romano, et al.Journal of the Neurological Sciences|March 6, 2016
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28Andrea Mignarri, Anna Rubegni, Alessandra Tessa, et al.Antioxidants (Basel, Switzerland)|December 30, 2025
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in PathophysiologyDario Zoppi, Anna Russo, Francesca Vallefuoco, et al.Neurogenetics|February 10, 2018
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature reviewFrancesco Mari, Beatrice Berti, Alessandro Romano, et al.Neurogenetics|September 19, 2012
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesisAlessandra Torraco, Daniela Verrigni, Teresa Rizza, et al.Journal of Clinical Medicine|April 3, 2021
Partial Lipodystrophy and LMNA p.R545H VariantSilvia Magno, Giovanni Ceccarini, Andrea Barison, et al.Journal of Neurology|October 14, 2011
New findings in the ataxia of Charlevoix-SaguenayJosé Gazulla, Isabel Benavente, Ana Carmen Vela, et al.Pageof 20