Martina Magistrati

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E. martina.magistrati@unipr.it

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De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review

Autori: Magistrati Martina; Zupin Luisa; Lamantea Eleonora; Baruffini Enrico; Ghezzi Daniele; Legati Andrea; Celsi Fulvio; Murru Flora Maria; Capaci Valeria; Pinamonti Maurizio; Bussani Rossana; Carrozzi Marco; Dallabona Cristina; Zeviani Massimo; Bonati Maria Teresa

Anno: 2025
Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

Autori: Capaci V; Zupin L; Magistrati M; Bonati Mt; Celsi F; Marrone I; Baldo F; Ura B; Spedicati B; Morgan A; Bruno I; Zeviani M; Dallabona C; Girotto G; Magnolato A

Anno: 2025
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae

Autori: Magistrati Martina; Gilea Alexandru Ionut; Gerra Maria Carla; Baruffini Enrico; Dallabona Cristina

Anno: 2023
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency

Autori: Arribas-Carreira Laura; Dallabona Cristina; Swanson Michael A; Farris Joseph; Østergaard Elsebet; Tsiakas Konstantinos; Hempel Maja; Aquaviva-Bourdain Cecile; Koutsoukos Stefanos; Stence Nicholas V; Magistrati Martina; Spector Elaine B; Kronquist Kathryn; Christensen Mette; Karstensen Helena G; Feichtinger René G; Achleitner Melanie T; Lawrence Merritt J; Pérez Belén; Ugarte Magdalena; Grünewald Stephanie; Riela Anthony R; Julve Natalia; Arnoux Jean-Baptiste; Haldar Kasturi; Donnini Claudia; Santer René; Lund Allan M; Mayr Johannes A; Rodriguez-Pombo Pilar; Van Hove Johan L K

Anno: 2023
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models

Autori: Magistrati Martina; Gilea ALEXANDRU IONUT; CECCATELLI BERTI Camilla; Baruffini Enrico; Dallabona Cristina

Anno: 2023

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Pubblicazioni

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency

Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models