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Journal of Neuropathology and Experimental Neurology|November 8, 2016
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionJean-Michel Vallat, Mathilde Nizon, Alex Magee, et al.
Developmental Medicine and Child Neurology|January 28, 2016
Eye movement disorders are an early manifestation of CACNA1A mutations in childrenEsther M Tantsis, Deepak Gill, Lyn Griffiths, et al.
Clinical Biomechanics (Bristol, Avon)|March 20, 2012
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth diseaseJoshua Burns, Robert Ouvrier, Tim Estilow, et al.
Annals of Neurology|April 24, 2012
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disabilityJoshua Burns, Robert Ouvrier, Tim Estilow, et al.
Neurology. Genetics|April 5, 2017
<i>CNTNAP1</i> mutations cause CNS hypomyelination and neuropathy with or without arthrogryposisHolger Hengel, Alex Magee, Muhammad Mahanjah, et al.
Annals of Neurology|October 7, 2004
Actin mutations are one cause of congenital fibre type disproportionNigel G Laing, Nigel F Clarke, Danielle E Dye, et al.
Mitochondrion|August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseManoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, et al.
American Journal of Human Genetics|June 15, 2007
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Claudia Stendel, Andreas Roos, Tine Deconinck, et al.
Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.
Annals of Neurology|December 19, 2003
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)Katja Grohmann, Raymonda Varon, Piroschka Stolz, et al.
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