GHEZZI, DANIELE

GHEZZI, DANIELE  

DIPARTIMENTO DI BIOTECNOLOGIE E BIOSCIENZE (attivo dal 01/01/1998 al 30/09/2012)  

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Titolo Tipologia Data di pubblicazione Autori File
Identification and characterization of nuclear genes responsible for human mitochondrial disorders: fastkd2, responsible for a neurological disease associated with cox defiency and sdhaf1, encoding a complex II assembly, mutated in SDH-defective leukoencephalopaty 07 - Tesi di dottorato Bicocca post 2009 2009 GHEZZI, DANIELE
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations 01 - Articolo su rivista 2014 Ardissone, AnnaGhezzi, Daniele +
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders 01 - Articolo su rivista 2015 Ardissone, AnnaSalsano, EttoreGhezzi, Daniele +
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance 01 - Articolo su rivista 2015 Ardissone, AnnaGhezzi, Daniele +
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance 01 - Articolo su rivista 2016 Ardissone, AnnaGhezzi, Daniele +
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies 01 - Articolo su rivista 2016 Ardissone, AnnaGhezzi, Daniele +
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations 01 - Articolo su rivista 2017 Ardissone, AnnaGhezzi, Daniele +
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? 01 - Articolo su rivista 2018 Ardissone, AnnaGhezzi, Daniele +
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease 01 - Articolo su rivista 2018 Di Meo, IvanoArdissone, AnnaGhezzi, Daniele +
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 01 - Articolo su rivista 2018 Ardissone, AnnaGhezzi, Daniele +
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults 01 - Articolo su rivista 2018 Ardissone, AnnaGhezzi, Daniele +
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 01 - Articolo su rivista 2018 CATANIA, ALESSIAArdissone, AnnaGhezzi, Daniele +