Concepedia
Statistics
Publications
19
Citations
701
H-Index
18
Active since
2012
Affiliations
Bambino Gesù Children's Hospital(Current)
Istituti di Ricovero e Cura a Carattere Scientifico
Fondazione IRCCS Istituto Neurologico Carlo Besta
University of Milan
Sapienza University of Rome
Michela Di Nottia is an author at Bambino Gesù Children's Hospital specializing in life sciences, genetics, and molecular genetics.
Publications per year
2012–2023
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2
Rosalba Carrozzo, Alessandra Torraco, Giuseppe Fiermonte et al. · Mitochondrion · 2014 · 61 citations
Life Sciences, Biochemistry, Cell Biology +12
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Alessia Nasca, Teresa Rizza, Mara Doimo et al. · Orphanet Journal of Rare Diseases · 2017 · 60 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration
Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky et al. · Neurology · 2018 · 52 citations · Full text
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
Michela Di Nottia, Maria Marchese, Daniela Verrigni et al. · Neurobiology of Disease · 2020 · 50 citations · Full text
Life Sciences, Genetics, Molecular Biology +17
Mutations in <i>ELAC2</i> associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing
Makenzie Saoura, Christopher A. Powell, Robert Kopajtich et al. · Human Mutation · 2019 · 49 citations · Full text
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