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Frontiers in Neurology|July 29, 2022
Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable PhenotypesDaniele Velardo, Maria Grazia D'Angelo, Andrea Citterio, et al.
International Journal of Molecular Sciences|December 11, 2025
Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical ExpressivityGiorgia D'Este, Alejandro Giorgetti, Denise Cassandrini, et al.
Clinical Genetics|February 19, 2021
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variantsCarmela Fusco, Grazia Nardella, Antonio Petracca, et al.
Frontiers in Neurology|February 2, 2024
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophyMartina Rimoldi, Gloria Romagnoli, Francesca Magri, et al.
Frontiers in Genetics|June 17, 2022
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA DeletionsArianna Manini, Leonardo Caporali, Megi Meneri, 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.
Frontiers in Neurology|June 2, 2023
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric studyDelia Gagliardi, Paolo Ripellino, Megi Meneri, et al.
BMC Neurology|December 29, 2018
Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eyeEleonora Mauri, Robertino Dilena, Antonio Boccazzi, et al.
International Journal of Molecular Sciences|September 9, 2022
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB GeneFrancesca Magri, Simona Zanotti, Sabrina Salani, et al.
Frontiers in Genetics|June 15, 2026
Glycogenin-1 deficiency: a case report and review of the literatureNicola Molitierno, Daniele Velardo, Giulia Salvucci, et al.
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