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Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunctionDISEASE MODELS & MECHANISMSIF3.32022-09-217OAAI
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathyBRAINIF11.72020-09-0147OAAI
Cardiac and Neuromuscular Features of Patients With LMNA-Related CardiomyopathyANNALS OF INTERNAL MEDICINEIF15.22019-10-0136PREAI
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study GroupADVANCES IN THERAPYIF42019-03-169PREAI
Assessment of disease progression in dysferlinopathy: A 1-year cohort studyNEUROLOGYIF8.52019-01-2922OAAI
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Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort studyJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRYIF7.52018-01-2913OAAI
Muscle MRI and functional outcome measures in Becker muscular dystrophySCIENTIFIC REPORTSIF3.92017-11-2236OAAI
MRI in sarcoglycanopathies: a large international cohort studyJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRYIF7.52017-09-0947OAAI
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SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cellsHUMAN MOLECULAR GENETICSIF3.22017-06-0827OAAI
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathiesSCIENTIFIC REPORTSIF3.92016-09-0144OAAI
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patientsJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRYIF7.52015-10-2656OAAI
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2ENEUROLOGYIF8.52015-04-2855OAAI
Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe DiseaseJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISMIF5.12015-02-0128OAAI
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