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Matthew Pitt

Showing results (41-50 of 51) with videos related to

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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.
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.
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.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
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.
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.
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.
Pageof 6