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Joshua Hersheson

Showing results (1-10 of 16) with videos related to

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Human Mutation|June 13, 2012
The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnosticsJoshua Hersheson, Andrea Haworth, Henry Houlden
Journal of Neurology|May 15, 2016
Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutationsSarah Wiethoff, Joshua Hersheson, Conceicao Bettencourt, et al.
JAMA Neurology|May 28, 2014
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxiaConceição Bettencourt, Mina Ryten, Paola Forabosco, et al.
Cerebellum (London, England)|March 21, 2016
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 GeneSarah Wiethoff, Conceição Bettencourt, Reema Paudel, et al.
Peerj|November 28, 2019
Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing <i>SBF2 (MTMR13)</i> genetic variant: a new spontaneous clinical modelNicolas Granger, Alejandro Luján Feliu-Pascual, Charlotte Spicer, et al.
Movement Disorders Clinical Practice|October 27, 2018
Expanding the Phenotype and Genetic Defects Associated with the <i>GOSR2</i> GeneRoman Praschberger, Bettina Balint, Niccolo E Mencacci, et al.
Neurology|June 19, 2015
ADCY5 mutations are another cause of benign hereditary choreaNiccolo E Mencacci, Roberto Erro, Sarah Wiethoff, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 13, 2013
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationYo-Tsen Liu, Joshua Hersheson, Vincent Plagnol, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 30, 2014
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?Roberto Erro, Joshua Hersheson, Christos Ganos, et al.
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Human Mutation|June 13, 2012
The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnosticsJoshua Hersheson, Andrea Haworth, Henry Houlden
Journal of Neurology|May 15, 2016
Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutationsSarah Wiethoff, Joshua Hersheson, Conceicao Bettencourt, et al.
JAMA Neurology|May 28, 2014
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxiaConceição Bettencourt, Mina Ryten, Paola Forabosco, et al.
Cerebellum (London, England)|March 21, 2016
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 GeneSarah Wiethoff, Conceição Bettencourt, Reema Paudel, et al.
Peerj|November 28, 2019
Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing <i>SBF2 (MTMR13)</i> genetic variant: a new spontaneous clinical modelNicolas Granger, Alejandro Luján Feliu-Pascual, Charlotte Spicer, et al.
Movement Disorders Clinical Practice|October 27, 2018
Expanding the Phenotype and Genetic Defects Associated with the <i>GOSR2</i> GeneRoman Praschberger, Bettina Balint, Niccolo E Mencacci, et al.
Neurology|June 19, 2015
ADCY5 mutations are another cause of benign hereditary choreaNiccolo E Mencacci, Roberto Erro, Sarah Wiethoff, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 13, 2013
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationYo-Tsen Liu, Joshua Hersheson, Vincent Plagnol, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 30, 2014
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?Roberto Erro, Joshua Hersheson, Christos Ganos, et al.
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
Pageof 2