GHEZZI, DANIELE

GHEZZI, DANIELE  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia : a POLG mimic? 1-lug-2016 D. Ghezzi + Article (author) -
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant 1-mag-2013 D. Ghezzi + Article (author) -
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS 1-gen-2019 Cerutti, RaffaeleGhezzi, DanieleViscomi, Carlo + Article (author) -
Assembly factors of human mitochondrial respiratory chain complexes: Physiology and pathophysiology 1-gen-2012 Ghezzi D. + Book Part (author) -
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 1-gen-2020 Lamantea E.Ardissone A.Ghezzi D. + Article (author) -
Benign hereditary chorea and deletions outside NKX2-1 : what's the role of MBIP? 1-ott-2018 D. Ghezzi + Article (author) -
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I 1-nov-2020 Nasca A.Lamantea E.Ghezzi D. + Article (author) -
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 1-gen-2021 Nasca A.Lamperti C.Ghezzi D. + Article (author) -
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy 1-set-2016 D. Ghezzi + Article (author) -
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations 20-nov-2014 D. Ghezzi + Article (author) -
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders 1-nov-2015 D. Ghezzi + Article (author) -
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration 1-gen-2018 Ghezzi, Daniele + Article (author) -
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy 1-nov-2016 G. ConteD. Ghezzi + Article (author) -
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? 19-lug-2018 Ghezzi, Daniele + Article (author) -
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease 1-apr-2018 D. Ghezzi + Article (author) -
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases 1-gen-2021 Ghezzi D.Lamantea E.Lamperti C. + Article (author) -
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children 1-mar-2021 Claudia CiaccioEleonora LamanteaDaniele Ghezzi + Article (author) -
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 1-mag-2019 Lamperti, CostanzaGhezzi, Daniele + Article (author) -
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease 1-giu-2017 D. Ghezzi + Article (author) -
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency 1-dic-2016 D. Ghezzi + Article (author) -