LAMANTEA, ELEONORA

LAMANTEA, ELEONORA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 1-gen-2020 Lamantea E.Ardissone A.Ghezzi D. + 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) -
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases 1-gen-2021 Ghezzi D.Lamantea E.Lamperti C. + Article (author) -
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children 1-mar-2021 Claudia CiaccioEleonora LamanteaDaniele Ghezzi + 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) -
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions 1-gen-2020 Di Meo I.Lamantea E.Lamperti C.Ghezzi D. + Article (author) -
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants 9-giu-2021 Peverelli L.Lamantea E.Ghezzi D.Lamperti C. + Article (author) -
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I 1-gen-2012 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) -