Maria Kinali

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Haiyan Zhou, Heinz Jungbluth, C. Sewry et al. · Brain · 2007 · 177 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

Eugenio Mercuri, Enrico Bertini, Sonia Messina et al. · Neurology · 2006 · 171 citations

Medicine, Pediatrics, Pharmacotherapy +10

Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study

Stephen Ray, Omar Abdel‐Mannan, Mário Sá et al. · The Lancet Child & Adolescent Health · 2021 · 156 citations · Full text

Medicine, Infectious Diseases, Pediatrics +15

Pilot trial of phenylbutyrate in spinal muscular atrophy

Eugenio Mercuri, Enrico Bertini, Sonia Messina et al. · Neuromuscular Disorders · 2003 · 134 citations

Medicine, Neurology, Pharmacotherapy +4

Pilot trial of albuterol in spinal muscular atrophy

Maria Kinali, Eugenio Mercuri, Marion Main et al. · Neurology · 2002 · 126 citations

Medicine, Pediatrics, Pharmacotherapy +13