L. Palmucci

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

Kathleen A. Quane, Jasmine Healy, Katherine E. Keating et al. · Nature Genetics · 1993 · 354 citations

Life Sciences, Genetics, Molecular Genetics +11

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Costanza Lamperti, Greta Fabbri, Liliana Vercelli et al. · Muscle & Nerve · 2010 · 157 citations · Full text

Medicine, Neurology, Neuromuscular Disorders +16

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

Sara Benedetti, I. Menditto, Massimo Degano et al. · Neurology · 2007 · 131 citations

Medicine, Genetics, Molecular Genetics +13

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

Carlo P. Trevisan, Ebe Pastorello, Mario Armani et al. · European Neurology · 2006 · 76 citations · Full text

Medicine, Cardiology, Internal Medicine +13

Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease

Antonio Migheli, Tiziana Mongini, C. Doriguzzi et al. · Neurogenetics · 1997 · 55 citations

Medicine, Neurology, Physiology +14