Valeria Sansone

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda et al. · Neuromuscular Disorders · 2019 · 626 citations · Full text

Medicine, Neurology, Pediatrics +10

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

Martin Tristani‐Firouzi, Judy L. Jensen, Matthew R. Donaldson et al. · Journal of Clinical Investigation · 2002 · 539 citations · Full text

Medicine, Cardiology, Genetics +17

Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)

G. Meola, Valeria Sansone, Daniela Perani et al. · Neuromuscular Disorders · 2003 · 217 citations

Medicine, Behavioral Sciences, Psychology +11

Andersen's syndrome: A distinct periodic paralysis

Valeria Sansone, Robert C. Griggs, G. Meola et al. · Annals of Neurology · 1997 · 212 citations · Full text

Life Sciences, Cardiology, Physiology +17

Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

Linda L. Bachinski, Bjarne Udd, G. Meola et al. · The American Journal of Human Genetics · 2003 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8