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Neurology|September 29, 2004
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)C Bruno, O P van Diggelen, D Cassandrini, et al.Neuromuscular Disorders : NMD|April 17, 2007
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric studyF D Tiziano, E Bertini, S Messina, et al.Neurology|November 4, 2006
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophyE Mercuri, E Bertini, S Messina, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 19, 2015
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk populationO Musumeci, G la Marca, M Spada, et al.Neuromuscular Disorders : NMD|January 24, 2006
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric studyE Mercuri, S Messina, R Battini, et al.Neurology|March 23, 2007
Phenotypic clustering of lamin A/C mutations in neuromuscular patientsS Benedetti, I Menditto, M Degano, et al.Neuromuscular Disorders : NMD|June 3, 2008
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian studyS Messina, M Mora, E Pegoraro, et al.Neurology|March 21, 2009
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyE Mercuri, S Messina, C Bruno, et al.Orphanet Journal of Rare Diseases|July 9, 2016
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patientsC Fiorillo, G Astrea, M Savarese, et al.Neuromuscular Disorders : NMD|June 26, 2009
Reliability of the North Star Ambulatory Assessment in a multicentric settingE S Mazzone, S Messina, G Vasco, et al.Pageof 11