Sviluppo di scale cliniche e di misure di outcome, caratterizzazione di nuovi biomarcatori e della storia naturale delle miopatie mitocondriali dell’adulto in previsione dei trial clinici
- 4 Anni 2017/2021
- 103.680€ Totale Fondi
Pubblicazioni Scientifiche
- 2021 MITOCHONDRION
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy.
- 2021 Frontiers in cell and developmental biology
Understanding the Multiple Role of Mitochondria in Parkinson's Disease and Related Disorders: Lesson From Genetics and Protein-Interaction Network.
- 2021 MITOCHONDRION
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy.
- 2020 Neurology. Genetics
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.
- 2019 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Novel mutations in DNA2 associated with myopathy and mtDNA instability.
- 2019 Case reports in neurological medicine
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
- 2018 BMC NEUROLOGY
Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye.
- 2019 Drugs in context
Mitochondrial disorders and drugs: what every physician should know.
- 2017 AMERICAN JOURNAL OF HUMAN GENETICS
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
- 2021 Frontiers in cell and developmental biology
Understanding the Multiple Role of Mitochondria in Parkinson's Disease and Related Disorders: Lesson From Genetics and Protein-Interaction Network.
- 2020 Neurology. Genetics
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.
- 2021 Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Catatonia as prominent feature of stroke-like episode in MELAS.
- 2021 Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Catatonia as prominent feature of stroke-like episode in MELAS.
- 2020 Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.
- 2020 Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.
- 2020 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
- 2020 JOURNAL OF INHERITED METABOLIC DISEASE
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.
- 2019 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Novel mutations in DNA2 associated with myopathy and mtDNA instability.
- 2020 JOURNAL OF INHERITED METABOLIC DISEASE
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.
- 2019 Drugs in context
Mitochondrial disorders and drugs: what every physician should know.
- 2019 Case reports in neurological medicine
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
- 2019 JOURNAL OF NEUROLOGY
Muscle pain in mitochondrial diseases: a picture from the Italian network.
- 2019 JOURNAL OF NEUROLOGY
Muscle pain in mitochondrial diseases: a picture from the Italian network.
- 2019 FRONTIERS IN NEUROLOGY
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.
- 2019 FRONTIERS IN NEUROLOGY
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.
- 2018 BMC NEUROLOGY
Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye.
- 2020 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
- 2017 AMERICAN JOURNAL OF HUMAN GENETICS
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
- 2017 Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
- 2016 Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
NEWS and VIEWS: mitochondrial encephalomyopathies
- 2016 Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
NEWS and VIEWS: mitochondrial encephalomyopathies
- 2017 Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
- 2018 Case reports in neurological medicine
Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene.
- 2018 Case reports in neurological medicine
Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene.
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