GHEZZI, DANIELE

GHEZZI, DANIELE  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Risultati 1 - 20 di 119 (tempo di esecuzione: 0.001 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children 1-mar-2021 Claudia CiaccioEleonora LamanteaDaniele Ghezzi + Article (author) -
A family with paroxysmal nonkinesigenic dyskinesias (PNKD) : Evidence of mitochondrial dysfunction 1-gen-2015 D. Ghezzi + Article (author) -
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly 25-apr-2020 Ghezzi D. + Article (author) -
A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity 1-dic-2013 D. Ghezzi + Article (author) -
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy 1-gen-2015 D. Ghezzi + Article (author) -
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease 1-mar-2016 D. Ghezzi + Article (author) -
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 1-dic-2017 C. LampertiGHEZZI, DANIELE + Article (author) -
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy 1-gen-2021 Di Meo I.Ghezzi D. + Article (author) -
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing 1-gen-2012 Lamperti C.Ghezzi D. + Article (author) -
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions 14-nov-2014 D. Ghezzi + Article (author) -
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders 26-mag-2015 D. Ghezzi + Article (author) -
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 LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement 1-gen-2022 Lamperti, CostanzaGhezzi, Daniele + 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) -