Marcello Villanova
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Cardiomyopathy and Myosin Studies, Genetic Neurodegenerative Diseases, Nuclear Structure and Function
Most-Cited Works
- → Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies(2002)361 cited
- → Airway clearance techniques in neuromuscular disorders: A state of the art review(2018)317 cited
- → Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy(2003)257 cited
- → Reliability of the North Star Ambulatory Assessment in a multicentric setting(2009)227 cited
- → Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy(2006)169 cited
- → Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy(2011)144 cited
- → FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation(1998)127 cited
- → Daily salbutamol in young patients with SMA type II(2008)115 cited
- → Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy(1999)106 cited
- → Prevalence of congenital muscular dystrophy in Italy(2015)103 cited