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Neuromuscular Disorders : NMD|August 17, 2014
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literaturePedro M Rodríguez Cruz, Caroline Sewry, David Beeson, et al.
Developmental Medicine and Child Neurology|October 23, 2010
Alexander disease with periventricular calcification: a novel mutation of the GFAP geneRosalind J Jefferson, Michael Absoud, Rakesh Jain, et al.
Archives of Disease in Childhood|July 16, 2020
Disability and visual outcomes following suspected abusive head trauma in children under 2 yearsJuliana Wright, Sally Painter, Sheethal Sujayeendra Kodagali, et al.
Developmental Medicine and Child Neurology|November 22, 2011
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndromeGeetha Anand, Nadeem Hasan, Sathiya Jayapal, et al.
Developmental Medicine and Child Neurology|May 25, 2010
X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episodeGeetha Anand, Nitin Maheshwari, David Roberts, et al.
Brain : a Journal of Neurology|April 25, 2007
Clinical features of the DOK7 neuromuscular junction synaptopathyJacqueline Palace, Daniel Lashley, John Newsom-Davis, et al.
The Pediatric Infectious Disease Journal|August 30, 2014
H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 geneGeetha Anand, Ravindran Visagan, Saleel Chandratre, et al.
Developmental Medicine and Child Neurology|March 18, 2014
Infantile neuroaxonal dystrophy caused by uniparental disomyJoyce Solomons, Oliver Ridgway, Carol Hardy, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2015
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 familiesAndreas Brunklaus, Rachael Ellis, Helen Stewart, et al.
Human Mutation|November 26, 2019
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structurePedro M Rodríguez Cruz, Judith Cossins, Jonathan Cheung, et al.
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