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Nigel F Clarke

Showing results (31-40 of 67) with videos related to

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European Journal of Human Genetics : EJHG|November 7, 2013
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsHoma Tajsharghi, Simon Hammans, Christopher Lindberg, et al.
Journal of Medical Genetics|April 11, 2013
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutationsJosine Marieke de Winter, Danielle Buck, Carlos Hidalgo, et al.
NPJ Genomic Medicine|November 21, 2017
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesDeborah Schofield, Khurshid Alam, Lyndal Douglas, et al.
Neuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.
Orphanet Journal of Rare Diseases|August 8, 2013
Genotype-phenotype correlations in recessive RYR1-related myopathiesKimberly Amburgey, Angela Bailey, Jean H Hwang, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE geneNigel F Clarke, Svetlana Maugenre, Aurélie Vandebrouck, et al.
Annals of Neurology|February 27, 2008
Mutations in TPM3 are a common cause of congenital fiber type disproportionNigel F Clarke, Hanna Kolski, Danielle E Dye, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
Human Molecular Genetics|August 27, 2015
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibresMichaela Yuen, Sandra T Cooper, Steve B Marston, et al.
Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.
Pageof 7

Showing results (31-40 of 67) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|November 7, 2013
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsHoma Tajsharghi, Simon Hammans, Christopher Lindberg, et al.
Journal of Medical Genetics|April 11, 2013
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutationsJosine Marieke de Winter, Danielle Buck, Carlos Hidalgo, et al.
NPJ Genomic Medicine|November 21, 2017
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesDeborah Schofield, Khurshid Alam, Lyndal Douglas, et al.
Neuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.
Orphanet Journal of Rare Diseases|August 8, 2013
Genotype-phenotype correlations in recessive RYR1-related myopathiesKimberly Amburgey, Angela Bailey, Jean H Hwang, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE geneNigel F Clarke, Svetlana Maugenre, Aurélie Vandebrouck, et al.
Annals of Neurology|February 27, 2008
Mutations in TPM3 are a common cause of congenital fiber type disproportionNigel F Clarke, Hanna Kolski, Danielle E Dye, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
Human Molecular Genetics|August 27, 2015
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibresMichaela Yuen, Sandra T Cooper, Steve B Marston, et al.
Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.
Pageof 7