GHEZZI, DANIELE

GHEZZI, DANIELE  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Genetic diagnosis of Mendelian disorders via RNA sequencing 2017 D. Ghezzi + Article (author) -
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 2017 C. LampertiGHEZZI, DANIELE + Article (author) -
Human diseases associated with defects in assembly of OXPHOS complexes 2018 Ghezzi, Daniele + Article (author) -
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 2018 Tonduti, DavideGhezzi, Daniele + Article (author) -
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies 2016 D. Ghezzi + Article (author) -
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 2015 D. Ghezzi + Article (author) -
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy 2013 D. Ghezzi + Article (author) -
Novel (ovario) leukodystrophy related to AARS2 mutations 2014 D. Ghezzi + Article (author) -
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions 2014 D. Ghezzi + Article (author) -
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy 2015 ZANOLINI, ALICEC. LampertiD. RonchiBONATO, SARAD. Ghezzi + Article (author) -
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders 2015 D. Ghezzi + Article (author) -
Not only dominant, not only optic atrophy : expanding the clinical spectrum associated with OPA1 mutations 2017 D. Ghezzi + Article (author) -
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy 2016 D. Ghezzi + Article (author) -
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency 2016 D. Ghezzi + Article (author) -
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency 2014 D. Ghezzi + Article (author) -
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 2018 D. TondutiD. Ghezzi + Article (author) -
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 2013 D. Ghezzi + Article (author) -
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions 2018 Ghezzi, Daniele + Article (author) -
The mitochondrial aminoacyl tRNA synthetases : Genes and syndromes 2014 D. Ghezzi + Article (author) -
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 2014 D. Ghezzi + Article (author) -