Costanza Lamperti

Fondazione IRCCS Istituto Neurologico Carlo Besta — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

46h-index7.4kcitations164works3.02yr avg
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Research Topics

Mitochondrial Function and Pathology(95), Metabolism and Genetic Disorders(59), ATP Synthase and ATPases Research(41), Genomics and Rare Diseases(16), Genetic Neurodegenerative Diseases(14)

Publications164 total

The return of metabolism: biochemistry and physiology of glycolysis
Biological reviews/Biological reviews of the Cambridge Philosophical Society·2025· 3 citedOpen Access
Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature
Molecular Genetics and Metabolism·2025
National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey.
PubMed·2025Open Access
Sex-based Differences in Visual Acuity Outcomes in a Historical Cohort of Patients with Leber Hereditary Optic Neuropathy from Case Record Survey-2 (CRS-2) (P5-11.018)
Neurology·2025
Changes in visual acuity categories in a historical population of patients with leber hereditary optic neuropathy from case record survey‐2 (CRS‐2)
Acta Ophthalmologica·2025
Visual acuity outcomes by causative mutation in the natural history of leber hereditary optic neuropathy: Analysis of historical data from case record survey‐2 (CRS‐2)
Acta Ophthalmologica·2025
Visual acuity outcomes by age at symptom onset in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey‐2 (CRS‐2)
Acta Ophthalmologica·2025
Visual acuity outcomes by age at symptom onset in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey‐2 (CRS‐2)
Acta Ophthalmologica·2025
Visual acuity outcomes by causative mutation in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey‐2 (CRS‐2)
Acta Ophthalmologica·2025
Visual acuity outcomes by sex in a historical population of patients with leber hereditary optic neuropathy from case record survey‐2 (CRS‐2)
Acta Ophthalmologica·2025
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Orphanet Journal of Rare Diseases·2024· 7 citedOpen Access
Multifocal vitelliform lesions associated with mitochondrial retinopathy
American Journal of Ophthalmology Case Reports·2024Open Access
525P Management of seizures in patients with primary mitochondrial diseases: consensus statement from the inter-ERNs mitochondrial working group
Neuromuscular Disorders·2024
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
Orphanet Journal of Rare Diseases·2024· 4 citedOpen Access
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the <scp>InterERNs</scp> Mitochondrial Working Group
European Journal of Neurology·2024· 12 citedOpen Access
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T&gt;C and m.10680G&gt;A
Stem Cell Research·2024· 1 citedOpen Access
Digenic Leigh syndrome on the background of the m.11778G&amp;gt;A Leber hereditary optic neuropathy variant
Brain·2024· 8 citedOpen Access
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
Cell Reports Medicine·2024· 21 citedOpen Access
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Brain Communications·2024· 8 citedOpen Access
Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night Blindness
Case Reports in Ophthalmological Medicine·2024Open Access
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Frequent Co-authors

Massimo Zeviani(30), Daniele Ghezzi(19), Maurizio Moggio(13), Enrico Bertini(11), Valério Carelli(10), Silvia Marchet(9), Carlo Viscomi(9), Holger Prokisch(9), Isabella Moroni(9), Alessia Nasca(9), António Toscano(8), Daria Diodato(8), Eleonora Lamantea(8), Serenella Servidei(7), C. Angelini(7), Thomas Meitinger(7), Michelangelo Mancuso(7), Gigliola Fagiolari(6), Michio Hirano(6), Tim M. Strom(6)