Emilio Franzonı

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Unusual variants of Alexander's disease

Marjo S. van der Knaap, Gajja S. Salomons, Rong Li et al. · Annals of Neurology · 2005 · 137 citations

Medicine, Molecular Genetics, Neurology +17

Early prednisone treatment in Duchenne muscular dystrophy

Luciano Merlini, Alessandro Cicognani, Elisabetta Malaspina et al. · Muscle & Nerve · 2002 · 132 citations

Medicine, Pharmacotherapy, Neuromuscular Disorders +14

Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14‐year follow‐up

Luciano Merlini, Monia Gennari, Elisabetta Malaspina et al. · Muscle & Nerve · 2012 · 115 citations · Full text

Medicine, Rehabilitation Medicine, Neuromuscular Disorders +12

Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

Venkateswaran Ramesh, Bruno De Bernardi, A. Stafa et al. · Developmental Medicine & Child Neurology · 2010 · 110 citations · Full text

Medicine, Molecular Medicine, Neurology +14