Showing results (81-90 of 351) with videos related to

Sort By:
Pageof 36
Mitochondrion|December 21, 2010
Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndromeGeorg M Stettner, Carlo Viscomi, Massimo Zeviani, et al.
BMJ Case Reports|June 21, 2011
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, et al.
Case Reports in Ophthalmological Medicine|November 20, 2024
Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night BlindnessGabriella Cammarata, Alessandra Mihalich, Emanuela Manfredini, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Human Molecular Genetics|August 31, 2006
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humansEnrico Baruffini, Tiziana Lodi, Cristina Dallabona, et al.
AJNR. American Journal of Neuroradiology|August 10, 2002
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutationsLaura Farina, Luisa Chiapparini, Graziella Uziel, et al.
Neuromuscular Disorders : NMD|May 27, 2008
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonismFederica Invernizzi, Sara Varanese, Astrid Thomas, et al.
Neuromuscular Disorders : NMD|December 4, 2001
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and IIIEleonora Lamantea, Franco Carrara, Caterina Mariotti, et al.
Molecular Therapy. Methods & Clinical Development|June 2, 2020
A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4 MicePedro Silva-Pinheiro, Raffaele Cerutti, Marta Luna-Sanchez, et al.
Molecular Genetics and Metabolism Reports|September 23, 2016
Mitochondrial m.3243A > G mutation and carotid artery dissectionMichelangelo Mancuso, Vincenzo Montano, Daniele Orsucci, et al.
Pageof 36