AN
Alessia Nasca
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, University of Milan, University of Milano-Bicocca, University of Catania
Research areas: Biochemistry, Genetics and Molecular Biology · Molecular Biology · Mitochondrial Function and Pathology · Metabolism and Genetic Disorders · Hereditary Neurological Disorders
0000-0002-0640-9929
Employment
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Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Biologist / Researcher2010 - Present
Education
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University of Milan Medical Genetics2020 - 2025
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University of Milano-Bicocca 2nd level Master in Preclinical and Clinical Drug Development2018 - 2019
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University of Catania MSc Cellular and Molecular Biology2007 - 2009
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University of Catania Bachelor Degree in General and Applied Biology2004 - 2007
Projects & Funding
Projects & funding information is unavailable.
Publications (36)
- Exploring Heteroplasmic Variants in mtDNA: Insights from Single-Cell Transcriptomics Save
- Exploring Heteroplasmic Variants in mtDNA: Insights from Single-Cell Transcriptomics Save
- A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy Save
- De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting Save
- Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders Save
- Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects Save
- Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions Save
- Variants in ATP5F1B are associated with dominantly inherited dystonia Save
- Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions Save
- Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. Save
- Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3. Save
- A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy Save
- Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation. Save
- Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA Save
- Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Save
- Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders Save
- Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I Save
- Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions Save
- ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy Save
- Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy Save