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Epileptic Disorders : International Epilepsy Journal with Videotape|November 20, 2008
Early-onset symptomatic focal epilepsy: a dilemma in the timing of surgeryNeely Desai, Ronit M Pressler, Nicola Jolleff, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 26, 2016
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiencyEfterpi Pavlidou, Vincenzo Salpietro, Rahul Phadke, et al.Neuromuscular Disorders : NMD|February 1, 2020
Paediatric myasthenia gravis: Prognostic factors for drug free remissionDomizia Vecchio, Sithara Ramdas, Pinki Munot, et al.Neuromuscular Disorders : NMD|March 23, 2013
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 geneNomazulu Dlamini, Dragana J Josifova, Simon M L Paine, et al.Mitochondrion|August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseManoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, et al.Neuromuscular Disorders : NMD|August 23, 2018
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspectsUrielle Ullmann, Luigi D'Argenzio, Shrey Mathur, et al.Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 6, 2016
Clinical features of the myasthenic syndrome arising from mutations in GMPPBPedro M Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, et al.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.Pageof 13