GHEZZI, DANIELE

GHEZZI, DANIELE  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine 2024 Ghezzi, Daniele + Article (author) -
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing 2023 Ghezzi D.Viscomi C. + Book Part (author) -
Expanding the spectrum of neonatal-onset AIFM1-associated disorders 2023 Ghezzi D.Nasca A.Lamantea E. + Article (author) -
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia 2023 Lamantea E.Peverelli L.Magri F.Comi G. P.Ronchi D.Ghezzi D.Lamperti C. + Article (author) -
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients 2023 Ardissone A.Ferrera G.Lamperti C.Ghezzi D.Lamantea E. + Article (author) -
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients 2023 Frascarelli C.Ghezzi D.Brunetti D. + Article (author) -
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions 2023 Frascarelli C.Nasca A.Lamantea E.Ghezzi D. + Article (author) -
Variants in ATP5F1B are associated with dominantly inherited dystonia 2023 Nasca, AlessiaFrascarelli, ChiaraGhezzi, Daniele + Article (author) -
Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA 2023 Ghezzi D. + Article (author) -
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum 2023 Ghezzi D. + Article (author) -
Expanding the Spectrum of NUBPL-Related Leukodystrophy 2023 Tonduti, DavideGhezzi, DanieleLamantea, Eleonora + Article (author) -
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder 2023 Tonduti, DavideGomez, MariaLamantea, EleonoraGhezzi, Daniele + Article (author) -
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects 2023 Alessia NascaEleonora LamanteaDaniele Ghezzi + Article (author) -
Clinical implementation of RNA sequencing for Mendelian disease diagnostics 2022 Ghezzi D. + Article (author) -
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions 2022 Nasca A.Meneri M.Comi G. P.Catania A.Lamperti C.Ronchi D.Ghezzi D. + Article (author) -
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal 2022 Ghezzi D. + Article (author) -
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects 2022 Ghezzi D. + Article (author) -
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement 2022 Lamperti, CostanzaGhezzi, Daniele + Article (author) -
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants 2021 Peverelli L.Lamantea E.Ghezzi D.Lamperti C. + Article (author) -
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 2021 Nasca A.Lamperti C.Ghezzi D. + Article (author) -