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Neurology. Genetics|April 12, 2016
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathyJeremy M Sullivan, Christina M Zimanyi, William Aisenberg, et al.Neurology. Genetics|April 12, 2016
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsyGudrun Schottmann, Dominik Seelow, Franziska Seifert, et al.Neurology. Genetics|April 12, 2016
Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomaliesChristine Shieh, Franklin Moser, John M Graham, et al.Neurology. Genetics|April 12, 2016
Whole-exome sequencing in neurologic practice: Reducing the diagnostic odysseyNicholas E JohnsonNeurology. Genetics|April 12, 2016
Benign hereditary chorea related to NKX2-1 with ataxia and dystoniaClaudio M de Gusmao, Fernando Kok, Erasmo Barbante Casella, et al.Neurology. Genetics|April 12, 2016
X-inactivation in the clinical phenotype of fragile X premutation carrier sistersDeborah A Hall, Erin E Robertson-Dick, Joan A O'Keefe, et al.Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.Neurology. Genetics|May 16, 2019
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and choreinYuka Urata, Masayuki Nakamura, Natsuki Sasaki, et al.Neurology. Genetics|May 16, 2019
Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutationLiina Kuuluvainen, Karri Kaivola, Saana Mönkäre, et al.Neurology. Genetics|July 27, 2018
SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, et al.Pageof 87