Claudio Semplicini
IDEO (United States)(US)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Glycogen Storage Diseases and Myoclonus, Lysosomal Storage Disorders Research, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years(2011)129 cited
- → The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis(2016)123 cited
- → Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials(2018)113 cited
- → The Clinical Outcome Study for dysferlinopathy(2016)109 cited
- → Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients(2015)79 cited
- → New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy(2020)75 cited
- → New motor outcome function measures in evaluation of Late‐Onset Pompe disease before and after enzyme replacement therapy(2012)75 cited
- → Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy(2015)74 cited
- → MRI in sarcoglycanopathies: a large international cohort study(2017)70 cited
- → Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E(2015)65 cited