NASCA, ALESSIA

NASCA, ALESSIA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
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 Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions 1-mar-2022 Nasca A.Meneri M.Comi G. P.Catania A.Lamperti C.Ronchi D.Ghezzi D. + Article (author) -
Current and new next-generation sequencing approaches to study mitochondrial DNA 1-giu-2021 Nasca A.Lamperti C.Lamantea E.Ghezzi D. + Article (author) -
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3 1-ott-2021 Nasca A.Lamantea E.Lamperti C.Ghezzi D. + Article (author) -
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation 1-gen-2021 Nasca A.Lamantea E.Ghezzi D. + Article (author) -