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Journal of Neurology|December 1, 2012
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN geneFrancesco Saccà, Angela Marsili, Giorgia Puorro, et al.
Case Reports in Cardiology|November 29, 2016
MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging ApproachSara Seitun, Laura Massobrio, Anna Rubegni, et al.
Neuroscience Letters|May 29, 2007
Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosisFabio Coppedè, Michelangelo Mancuso, Annalisa Lo Gerfo, 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.
Journal of Neuromuscular Diseases|November 21, 2022
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case ReportDomenico Giannese, Vincenzo Montano, Piervito Lopriore, et al.
BMC Neurology|July 22, 2018
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndromePaolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, 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 Neurology|October 14, 2011
New findings in the ataxia of Charlevoix-SaguenayJosé Gazulla, Isabel Benavente, Ana Carmen Vela, et al.
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