Pubblicazioni | Mitocon

Understanding the Multiple Role of Mitochondria in Parkinson’s Disease and Related Disorders: Lesson From Genetics and Protein-Interaction Network

2021 FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

2021 MITOCHONDRION

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

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

2020 NEUROLOGY. GENETICS

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus

2020 JOURNAL OF INHERITED METABOLIC DISEASE

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

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

2020 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Novel mutations in DNA2 associated with myopathy and mtDNA instability

2019 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

2019 FRONTIERS IN NEUROLOGY

CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions

2019 CASE REPORTS IN NEUROLOGICAL MEDICINE

Mitochondrial disorders and drugs: what every physician should know

2019 DRUGS IN CONTEXT

Muscle pain in mitochondrial diseases: a picture from the Italian network

2019 JOURNAL OF NEUROLOGY

Subclinical Leber’s hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye

2018 BMC NEUROLOGY

Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene

2018 CASE REPORTS IN NEUROLOGICAL MEDICINE

Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?

2017 ACTA MYOLOGICA : MYOPATHIES AND CARDIOMYOPATHIES : OFFICIAL JOURNAL OF THE MEDITERRANEAN SOCIETY OF MYOLOGY

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

2017 AMERICAN JOURNAL OF HUMAN GENETICS

NEWS and VIEWS: mitochondrial encephalomyopathies

2016 ACTA MYOLOGICA : MYOPATHIES AND CARDIOMYOPATHIES : OFFICIAL JOURNAL OF THE MEDITERRANEAN SOCIETY OF MYOLOGY

Informazioni sul progetto

Registro Italiano

Il ProgettoRiservatezza Dei DatiPubblicazioni

Governance

Comitato Di GestioneComitato Di ControlloCome Aderire

Registration / Registrazione

Step 1 of 4

PERSONAL INFORMATION / INFORMAZIONI PERSONALI

Full name Name / Nome e Cognome

Email

Phone / Telefono

Country / Paese

Professional Title / Titolo professionale

if applicable / se applicabile

Affiliation / Affiliazione

if applicable / se applicabile