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A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy

artículo científico publicado en 2022

Central Nervous System involvement in Late Onset Pompe Disease (LOPD): clues from neuroimaging and neuropsychological analysis

scientific article published on 15 November 2018

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

artículo científico publicado en 2018

Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge

artículo científico publicado en 2019

Muscle pain in mitochondrial diseases: a picture from the Italian network

article

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

artículo científico publicado en 2016

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

scientific article published on 20 October 2020

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

artículo científico publicado en 2016

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