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M. Di Nottia · SciRah

Researcher profile · Semantic Scholar

M. Di Nottia

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M. Di Nottia — researcher profile on SciRah

h-index: 18
Works: 32
Citations: 791

Most-cited papers

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
A. Nasca, T. Rizza, Mara Doimo, A. Legati +18 more
2017Orphanet Journal of Rare Diseases55 citations Open access
Semantic Scholar
DJ‐1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7
M. Di Nottia, Marcella Masciullo, D. Verrigni, S. Petrillo +13 more
2017Clinical Genetics53 citations
Semantic Scholar
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.
R. Carrozzo, A. Torraco, G. Fiermonte, D. Martinelli +13 more
2014Mitochondrion (Amsterdam. Print)51 citations
Semantic Scholar
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing
Makenzie Saoura, Christopher A. Powell, R. Kopajtich, Ahmad Alahmad +29 more
2018bioRxiv49 citations Open access
Semantic Scholar
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy
D. Verrigni, M. Di Nottia, A. Ardissone, E. Baruffini +23 more
2019Human Mutation48 citations Open access
Semantic Scholar
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
V. Muto, E. Flex, Zachary A. Kupchinsky, G. Primiano +27 more
2018Neurology48 citations Open access
Semantic Scholar
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
A. Torraco, A. Ardissone, F. Invernizzi, T. Rizza +16 more
2016Journal of Neurology47 citations
Semantic Scholar
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
M. Di Nottia, Maria Marchese, D. Verrigni, C. Mutti +15 more
2020Neurobiology of Disease42 citations Open access
Semantic Scholar
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect
D. Verrigni, D. Diodato, M. Di Nottia, A. Torraco +9 more
2017Clinical Genetics40 citations
Semantic Scholar
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches
M. Di Nottia, D. Verrigni, A. Torraco, T. Rizza +2 more
2021Genes38 citations Open access
Semantic Scholar
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection
Jessica Marinaccio, Emanuela Micheli, I. Udroiu, M. Di Nottia +7 more
2023International Journal of Molecular Sciences33 citations Open access
Semantic Scholar
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
A. Torraco, Marzia Bianchi, D. Verrigni, Vania Gelmetti +18 more
2017Clinical Genetics31 citations Open access
Semantic Scholar
CNF1 Improves Astrocytic Ability to Support Neuronal Growth and Differentiation In vitro
F. Malchiodi-Albedi, S. Paradisi, M. Di Nottia, D. Simone +7 more
2012PLoS ONE31 citations Open access
Semantic Scholar
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins
A. Torraco, O. Stehling, Claudia Stümpfig, Ralf Rösser +13 more
2018Human Molecular Genetics30 citations Open access
Semantic Scholar
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
S. Galosi, E. Barca, R. Carrozzo, T. Schirinzi +13 more
2019Parkinsonism & Related Disorders27 citations
Semantic Scholar
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation
M. Di Nottia, A. Montanari, D. Verrigni, R. Oliva +11 more
2017Biochimica et Biophysica Acta - Molecular Basis of Disease26 citations Open access
Semantic Scholar
Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1
S. Travaglione, S. Loizzo, T. Rizza, Antonella Del Brocco +8 more
2014The FEBS Journal25 citations
Semantic Scholar
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation
A. Torraco, A. Nasca, D. Verrigni, Alessandra Pennisi +18 more
2021Human Mutation22 citations Open access
Semantic Scholar
GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study
A. Tramutola, Hannah S. Bakels, Federica Perrone, M. Di Nottia +9 more
2023EBioMedicine16 citations Open access
Semantic Scholar
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
S. Martinelli, Viviana Cordeddu, S. Galosi, A. Lanzo +29 more
2020Parkinsonism & Related Disorders16 citations Open access
Semantic Scholar
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
R. Kaiyrzhanov, Sami E M Mohammed, R. Maroofian, Ralf A. Husain +50 more
2022American Journal of Human Genetics13 citations Open access
Semantic Scholar
Silencing of the mitochondrial ribosomal protein L-24 gene activates the oxidative stress response in Caenorhabditis elegans.
Graziella Ficociello, Emily Schifano, M. Di Nottia, A. Torraco +3 more
2022Biochimica et Biophysica Acta - General Subjects12 citations
Semantic Scholar
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
B. Berti, D. Verrigni, A. Nasca, M. Di Nottia +14 more
2024International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Giovanna Carpentieri, C. Leoni, D. Pietraforte, S. Cecchetti +19 more
2021Human Molecular Genetics8 citations Open access
Semantic Scholar
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
A. Torraco, O. Stehling, Claudia Stümpfig, Ralf Rösser +13 more
2018Human Molecular Genetics8 citations Open access
Semantic Scholar
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature
A. Torraco, S. Morlino, T. Rizza, M. Di Nottia +7 more
2022Clinical Genetics7 citations Open access
Semantic Scholar
Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia
F. Fabozzi, R. Carrozzo, M. Lodi, A. Di Giannatale +13 more
2024Frontiers in Oncology3 citations Open access
Semantic Scholar
Inflammatory profile in mitochondrial diseases: A cohort study
G. Primiano, D. Plantone, G. Piro, C. Carbone +5 more
2023European Journal of Neurology3 citations
Semantic Scholar
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene
M. Di Nottia, T. Rizza, E. Baruffini, C. Nesti +12 more
2024Frontiers in Genetics2 citations Open access
Semantic Scholar
Neurological manifestations and genotype–phenotype correlations in NDUFAF6-associated mitochondrial disease
A. Torraco, C. Alston, Giulia Barcia, D. Verrigni +20 more
2026Brain Communications1 citations Open access
Semantic Scholar
A20 Reduced levels of the glucose transporter glut-1 in brain striatum and periphery reveals clues to specific pathomechanisms in childhood-onset Huntington disease
Federica Perrone, Hannah S. Bakels, A. Tramutola, M. Di Nottia +7 more
2022A: Pathogenic mechanisms0 citations
Semantic Scholar
NOVEL HOMOZIGOUS DJ-1 MUTATION CAUSES A PARKINSONISM-PLUS SYNDROME MIMICKING A MITOCHONDRIAL DISORDER
M. Di Nottia, M. Masciullo, D. Verrigni, S. Petrillo +5 more
20150 citations
Semantic Scholar

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