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Journal of Human Genetics|February 22, 2021
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathyAlessia Nasca, Ivano Di Meo, Yakov Fellig, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|June 21, 2020
Opa1 Overexpression Protects from Early-Onset Mpv17-/--Related Mouse Kidney DiseaseMarta Luna-Sanchez, Cristiane Benincá, Raffaele Cerutti, et al.Proteomics|February 13, 2016
Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiencyNavid Sahebekhtiari, Michelle M Thomsen, Jens J Sloth, et al.Journal of Neurology|February 25, 2005
High frequency stimulation of the subthalamic nucleus is efficacious in Parkin diseaseLuigi M A Romito, Maria F Contarino, Daniele Ghezzi, et al.Stem Cell Research|January 12, 2021
Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndromeCamille Peron, Roberta Mauceri, Angelo Iannielli, et al.Human Gene Therapy|December 30, 2017
Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal EncephalomyopathyJavier Torres-Torronteras, Raquel Cabrera-Pérez, Ferran Vila-Julià, et al.Cell Metabolism|July 5, 2011
In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axisCarlo Viscomi, Emanuela Bottani, Gabriele Civiletto, et al.Neurology. Genetics|July 28, 2017
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.Cell Metabolism|August 21, 2018
Perturbed Redox Signaling Exacerbates a Mitochondrial MyopathySukru Anil Dogan, Raffaele Cerutti, Cristiane Benincá, et al.EMBO Molecular Medicine|October 13, 2018
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesisGabriele Civiletto, Sukru Anil Dogan, Raffaele Cerutti, et al.Pageof 26