Gigliola Fagiolari

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مقالات 19

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2018-10-11

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

Massimo Zeviani, Cristiane Benincá, Sukru Anil Dogan, Costanza Lamperti, Gigliola Fagiolari, Maurizio Moggio
2018

Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the Literature

Nereo Bresolin, Gigliola Fagiolari, Maurizio Moggio, Claudia Maria Cinnante, Patrizia Ciscato, Andrea Artoni
2018-07-24

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

Michela Ripolone, Stefania Mondello, Gigliola Fagiolari, Maurizio Moggio, Monica Sciacco, Andreina Bordoni
2015-06-18

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Alessia Nasca, Dario Ronchi, Eleonora Lamantea, Daniele Ghezzi, Massimo Zeviani, Costanza Lamperti, Gigliola Fagiolari, Maurizio Moggio
2015-07-22

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

Gigliola Fagiolari, Maurizio Moggio, Claudia Maria Cinnante, Patrizia Ciscato, Andreina Bordoni, Silvia Testolin, Monica Sciacco
2014-05-01

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock

Mauro Pluderi, Giacomo P Comi, Luciano Gattinoni, Gigliola Fagiolari, Maurizio Moggio, Patrizia Ciscato
2014-05-14

Novel CLN3 mutation causing autophagic vacuolar myopathy.

جون هاردي, Ivana Ricca, Michela Ripolone, Pietro Fratta, Alan Pittman, Cristina Cereda, Sara E. Mole, Gigliola Fagiolari, Maurizio Moggio, Arrigo Moglia, Patrizia Ciscato
2014-04-17

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

Eleonora Lamantea, Daria Diodato, Federica Invernizzi, Rossella Parini, Daniele Ghezzi, Holger Prokisch, Massimo Zeviani, Costanza Lamperti, Gigliola Fagiolari, Filippo Maria Santorelli, Elisabetta Pasquini
2014-02-01

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

Marija Meznarič, Cecilia Jimenez-Mallebrera, Susana Kalko, Gigliola Fagiolari, Maurizio Moggio, Monica Sciacco, Isidre Ferrer
2013-12-06

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

Valeria Tiranti, Dario Brunetti, Silvia Marchet, Sabrina Dusi, Carla Giordano, Michela Morbin, Costanza Lamperti, Gigliola Fagiolari, Maurizio Moggio
2011-07-01

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

Massimo Zeviani, Costanza Lamperti, Gigliola Fagiolari, Maurizio Moggio
2011-02-25

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

Valeria Tiranti, Massimo Zeviani, Gigliola Fagiolari
2009-02

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

Ivano Di Meo, Alessandro Prelle, Valeria Tiranti, Massimo Zeviani, Gigliola Fagiolari
2009-07-25

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation.

Giacomo P Comi, Costanza Lamperti, Nereo Bresolin, Gigliola Fagiolari, Maurizio Moggio, Rachele Cagliani, Anna Cappellini
2009-02

Erratum: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

Massimo Zeviani, Gigliola Fagiolari
2006-01-04

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

Giacomo P Comi, Nereo Bresolin, Costanza Lamperti, Isabella Moroni, Gigliola Fagiolari, Maurizio Moggio, Patrizia Ciscato, Rachele Cagliani
2005-09-15

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.

Alessio Di Fonzo, Giacomo P Comi, Costanza Lamperti, Nereo Bresolin, Gigliola Fagiolari, Maurizio Moggio, Monica Sciacco, Patrizia Ciscato, Andreina Bordoni
2003-02-15

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

Eleonora Lamantea, Federica Invernizzi, Alessandro Prelle, Valeria Tiranti, Massimo Zeviani, Gigliola Fagiolari
2002-08-01

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

Giacomo P Comi, Alessandro Prelle, Costanza Lamperti, Gigliola Fagiolari, Maurizio Moggio, Monica Sciacco

Human - wd:Q80073495

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