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Gigliola Fagiolari | doi.page

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Gigliola Fagiolari

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico(IT)Ospedale Maggiore(IT)

Publications by Year

Research Areas

Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research

Most-Cited Works

→ Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy(2009)401 cited
→ In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis(2011)285 cited
→ Autologous Transplantation of Muscle-Derived CD133+ Stem Cells in Duchenne Muscle Patients(2007)229 cited
→ Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts(2016)167 cited
→ Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy(2015)132 cited
→ Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies(2014)123 cited

→ Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis(2018)

118 cited

→ RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy(2015)111 cited

→ Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome(1998)111 cited

→ Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model(2013)100 cited