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The Roles of Coenzyme Q in Disease: Direct and Indirect Involvement in Cellular Functions

International journal of molecular sciences, 2021-12, Vol.23 (1), p.128

2021

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Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

Cell metabolism, 2015-06, Vol.21 (6), p.845-854

2015

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NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

Cell metabolism, 2014-06, Vol.19 (6), p.1042-1049

2014

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Transcription Factor EB Controls Metabolic Flexibility during Exercise

Cell metabolism, 2017-01, Vol.25 (1), p.182-196

2017

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

EMBO molecular medicine, 2018-11, Vol.10 (11), p.n/a

2018

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Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies

Pharmaceutics, 2020-11, Vol.12 (11), p.1083

2020

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Myoclonus epilepsy in mitochondrial disorders

Epileptic disorders, 2016-09, Vol.18 (s2), p.S94-S102

2016

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New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Biochimica et biophysica acta, 2016-08, Vol.1857 (8), p.1326-1335

2016

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A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.200-9, Article 200

2024

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Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

International journal of molecular sciences, 2023-08, Vol.24 (16), p.12580

2023

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Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions

Frontiers in genetics, 2023-06, Vol.14, p.1089956-1089956

2023

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

American journal of human genetics, 2015-07, Vol.97 (1), p.186-193

2015

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Distinctive patterns of microRNA expression in primary muscular disorders

Proceedings of the National Academy of Sciences - PNAS, 2007-10, Vol.104 (43), p.17016-17021

2007

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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

Nature genetics, 2011-03, Vol.43 (3), p.259-263

2011

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De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting

International journal of molecular sciences, 2024-07, Vol.25 (14), p.7782

2024

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Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-413, Article 413

2021

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Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice

Frontiers in pharmacology, 2020-07, Vol.11, p.1171-1171

2020

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Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A

Stem cell research, 2024-06, Vol.77, p.103406, Article 103406

2024

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Muscular dystrophies: histology, immunohistochemistry, molecular genetics and management

Current pharmaceutical design, 2010-03, Vol.16 (8), p.978-987

2010

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Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.89-89, Article 89

2017

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Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

Neurogenetics, 2020-04, Vol.21 (2), p.87-96

2020

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Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants

Frontiers in neurology, 2021-06, Vol.12, p.657317-657317

2021

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The Roles of Coenzyme Q in Disease: Direct and Indirect Involvement in Cellular Functions

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

Transcription Factor EB Controls Metabolic Flexibility during Exercise

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

Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies

Myoclonus epilepsy in mitochondrial disorders

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions

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

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Distinctive patterns of microRNA expression in primary muscular disorders

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice

Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A

Muscular dystrophies: histology, immunohistochemistry, molecular genetics and management

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

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