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Human Mutation|July 12, 2020
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletionsSilvia Marchet, Andrea Legati, Alessia Nasca, et al.
Cerebellum (London, England)|November 29, 2022
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian PatientsFabiana Colucci, Marcella Neri, Fernanda Fortunato, et al.
Pharmacological Research|April 15, 2026
PPARγ activation by leriglitazone counteracts neurodegeneration and neuroinflammation in a disease-relevant mouse model of COASY dysfunctionChiara Cavestro, Floriana Cascone, Andrea Legati, et al.
American Journal of Medical Genetics. Part A|August 24, 2016
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsyFederico Raviglione, Giorgio Conte, Daniele Ghezzi, et al.
Biochimica Et Biophysica Acta|March 13, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologiesAndrea Legati, Aurelio Reyes, Alessia Nasca, et al.
Cells|March 25, 2022
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA DeletionsAlessia Nasca, Andrea Legati, Megi Meneri, et al.
Human Mutation|March 3, 2015
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain CalcificationRoberta R Lemos, Eliana M Ramos, Andrea Legati, et al.
Journal of Medical Genetics|October 29, 2017
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathyAndrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, et al.
Stem Cell Research|March 29, 2024
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>ACamille Peron, Andrea Cavaliere, Chiara Fasano, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 2, 2015
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriersGaël Nicolas, Camille Charbonnier, Roberta Rodrigues de Lemos, et al.
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