Karen Pysden

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 377 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

Valeria Ricotti, Deborah Ridout, E. Scott et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 260 citations

Medicine, Endocrinology, Musculoskeletal Rehabilitation +13

Neurological Manifestations of Influenza Infection in Children and Adults: Results of a National British Surveillance Study

Anu Goenka, Benedict Michael, Elizabeth Ledger et al. · Clinical Infectious Diseases · 2013 · 185 citations · Full text

Medicine, Infectious Diseases, Neurology +15

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

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng et al. · Brain · 2022 · 156 citations · Full text

Medicine, Genetics, Neurology +17