ARDISSONE, ANNA

ARDISSONE, ANNA  

DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)  

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Risultati 1 - 19 di 19 (tempo di esecuzione: 0.009 secondi).
Titolo Data di pubblicazione Autori
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy 1-gen-2013 Ardissone, AnnaBragato, Cinzia +
Mitochondrial dysfunction in central nervous system white matter disorders 1-gen-2014 Ardissone, AnnaUziel, Graziella +
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations 1-gen-2014 Ardissone, AnnaGhezzi, Daniele +
Mitochondrial diseases in childhood 1-gen-2014 Ardissone, A.Uziel, G. +
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders 1-gen-2015 Ardissone, AnnaSalsano, EttoreGhezzi, Daniele +
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance 1-gen-2015 Ardissone, AnnaGhezzi, Daniele +
SEPN1-related myopathy in three patients: novel mutations and diagnostic clues 1-gen-2016 ARDISSONE, ANNABragato, C +
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies 1-gen-2016 Ardissone, AnnaGhezzi, Daniele +
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance 1-gen-2016 Ardissone, AnnaGhezzi, Daniele +
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 1-gen-2017 Ardissone, A. +
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations 1-gen-2017 Ardissone, AnnaGhezzi, Daniele +
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 1-gen-2018 CATANIA, ALESSIAArdissone, AnnaGhezzi, Daniele +
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults 1-gen-2018 Ardissone, AnnaGhezzi, Daniele +
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? 1-gen-2018 Ardissone, AnnaGhezzi, Daniele +
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 1-gen-2018 Ardissone, AnnaGhezzi, Daniele +
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders 1-gen-2018 Ardissone, Anna +
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease 1-gen-2018 Di Meo, IvanoArdissone, AnnaGhezzi, Daniele +
Mitochondrial diseases related to mtDNA in childhood: genotype-phenotype correlation and characterization of novel phenotypes 11-feb-2020 ARDISSONE, ANNA
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy 1-gen-2021 Bulgheroni S.Ardissone A.Boncoraglio G.Catania A.Cilia R.D'Arrigo S.Fichera M.Redaelli V.Salsano E.Usai S. +