Marjorie Illingworth

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 164 citations · Full text

Medicine, Molecular Genetics, Pathology +13

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

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1

Karolina Aragon‐Gawinska, Andreea Seferian, Aurore Daron et al. · Neurology · 2018 · 121 citations

Medicine, Pediatrics, Pharmacotherapy +15

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

Jean K. Mah, Paula R. Clemens, Michela Guglieri et al. · JAMA Network Open · 2022 · 88 citations · Full text

Pharmacy, Pharmacotherapy, Clinical Pharmacology +12

PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

Marjorie Illingworth, Esther Meyer, W.K. Chong et al. · Molecular Genetics and Metabolism · 2014 · 85 citations · Full text

Medicine, Neurology, Pediatrics +17