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Annals of Neurology|March 3, 2017
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeVincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, et al.Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.Human Molecular Genetics|September 6, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyriaAthina Ververi, Sara Zagaglia, Lara Menzies, et al.Brain : a Journal of Neurology|March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomePhilippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.Archives of Disease in Childhood. Fetal and Neonatal Edition|May 10, 2024
Early and extended erythropoietin monotherapy after hypoxic ischaemic encephalopathy: a multicentre double-blind pilot randomised controlled trialReema Garegrat, Atul Londhe, Swati Manerkar, et al.Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, et al.Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.The Lancet. Global Health|August 6, 2021
Hypothermia for moderate or severe neonatal encephalopathy in low-income and middle-income countries (HELIX): a randomised controlled trial in India, Sri Lanka, and BangladeshSudhin Thayyil, Stuti Pant, Paolo Montaldo, et al.Pageof 8