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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.Neuropsychiatric Disease and Treatment|June 27, 2009
SAFA: A new measure to evaluate psychiatric symptoms detected in a sample of children and adolescents affected by eating disorders. Correlations with risk factorsEmilo Franzoni, Morena Monti, Alessandro Pellicciari, et al.Molecular Genetics and Metabolism|December 3, 2019
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvementMargherita Protasoni, Claudio Bruno, Maria Alice Donati, 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.Human Molecular Genetics|September 27, 2008
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout miceCarlo Viscomi, Antonella Spinazzola, Marco Maggioni, et al.Nature Structural & Molecular Biology|June 20, 2018
Cryo-EM structures of complex I from mouse heart mitochondria in two biochemically defined statesAhmed-Noor A Agip, James N Blaza, Hannah R Bridges, et al.Developmental Medicine and Child Neurology|May 20, 2011
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotypeCaterina Garone, Tommaso Pippucci, Duccio M Cordelli, et al.Cell Metabolism|June 4, 2015
Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse modelsGabriele Civiletto, Tatiana Varanita, Raffaele Cerutti, et al.Pageof 15