C. Marini Bettolo

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 103 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +15

Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England

H.J.A. van Ruiten, C. Marini Bettolo, Tim Cheetham et al. · European Journal of Paediatric Neurology · 2016 · 97 citations

Medicine, Internal Medicine, Clinical Epidemiology +4

Clinical Variability in Spinal Muscular Atrophy Type <scp>III</scp>

Giorgia Coratti, Sonia Messina, Simona Lucibello et al. · Annals of Neurology · 2020 · 92 citations

Medicine, Biostatistics, Neurology +14

Intracortical excitability in patients with relapsing–remitting and secondary progressive multiple sclerosis

Antonella Conte, Vittorio Frasca, F. Gilio et al. · Journal of Neurology · 2009 · 74 citations

Life Sciences, Neurology, Neuroscience +13

Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner, Andreas Roos, Christopher J. Munn et al. · The American Journal of Human Genetics · 2017 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14