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Skeletal Muscle|September 29, 2022
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature reviewFrancesca Magri, Sara Antognozzi, Michela Ripolone, et al.
Frontiers in Neurology|February 16, 2019
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the LiteratureDelia Gagliardi, Eleonora Mauri, Francesca Magri, et al.
BMC Neurology|June 12, 2026
Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case reportMariapia Griffo, Francesca Magri, Francesca Furlan, et al.
Frontiers in Neurology|March 16, 2019
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial PatientsOlimpia Musumeci, Emanuele Barca, Costanza Lamperti, et al.
American Journal of Human Genetics|May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiencyAlessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.
Brain : a Journal of Neurology|October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletionsDario Ronchi, Caterina Garone, Andreina Bordoni, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patientsSimona Zanotti, Francesca Magri, Sabrina Salani, et al.
Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.
Cellular and Molecular Gastroenterology and Hepatology|November 25, 2021
TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro ModelsMiriam Longo, Marica Meroni, Erika Paolini, et al.
Parkinsonism & Related Disorders|April 8, 2020
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophyGiacomo Bitetto, Maria Chiara Malaguti, Roberto Ceravolo, et al.
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