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Nigel F Clarke

Showing results (51-60 of 67) with videos related to

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Annals of Neurology|June 14, 2008
De novo LMNA mutations cause a new form of congenital muscular dystrophySusana Quijano-Roy, Blaise Mbieleu, Carsten G Bönnemann, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Brain : a Journal of Neurology|February 5, 2013
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivityNancy Mokbel, Biljana Ilkovski, Michaela Kreissl, et al.
Annals of Neurology|April 14, 2016
Mutation-specific effects on thin filament length in thin filament myopathyJosine M de Winter, Barbara Joureau, Eun-Jeong Lee, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Pageof 7

Showing results (51-60 of 67) with videos related to

Sort By:
Pageof 7
Annals of Neurology|June 14, 2008
De novo LMNA mutations cause a new form of congenital muscular dystrophySusana Quijano-Roy, Blaise Mbieleu, Carsten G Bönnemann, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Brain : a Journal of Neurology|February 5, 2013
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivityNancy Mokbel, Biljana Ilkovski, Michaela Kreissl, et al.
Annals of Neurology|April 14, 2016
Mutation-specific effects on thin filament length in thin filament myopathyJosine M de Winter, Barbara Joureau, Eun-Jeong Lee, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Pageof 7