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Cheryl Longman

Showing results (31-40 of 57) with videos related to

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American Journal of Medical Genetics. Part A|May 15, 2008
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644CJulia Rankin, Michaela Auer-Grumbach, Warwick Bagg, et al.
Neuromuscular Disorders : NMD|August 23, 2018
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspectsUrielle Ullmann, Luigi D'Argenzio, Shrey Mathur, et al.
Neuromuscular Disorders : NMD|March 29, 2025
Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of ScotlandTaylor Watson-Fargie, Autumn Coomber, Rachel Edwards, et al.
Neuromuscular Disorders : NMD|July 10, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodMaria Sframeli, Anna Sarkozy, Marta Bertoli, et al.
European Journal of Human Genetics : EJHG|July 4, 2018
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1Sarah A Cumming, Mark J Hamilton, Yvonne Robb, et al.
Neuromuscular Disorders : NMD|April 1, 2022
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1Mark J Hamilton, Antonio Atalaia, John McLean, et al.
Journal of Medical Genetics|April 8, 2022
<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrumMagdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, et al.
Science Signaling|September 27, 2022
Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibitionCaila A Pilo, Timothy R Baffi, Alexandr P Kornev, et al.
Plos One|April 7, 2017
Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up studyMark J Hamilton, Yvonne Robb, Sarah Cumming, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|May 15, 2008
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644CJulia Rankin, Michaela Auer-Grumbach, Warwick Bagg, et al.
Neuromuscular Disorders : NMD|August 23, 2018
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspectsUrielle Ullmann, Luigi D'Argenzio, Shrey Mathur, et al.
Neuromuscular Disorders : NMD|March 29, 2025
Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of ScotlandTaylor Watson-Fargie, Autumn Coomber, Rachel Edwards, et al.
Neuromuscular Disorders : NMD|July 10, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodMaria Sframeli, Anna Sarkozy, Marta Bertoli, et al.
European Journal of Human Genetics : EJHG|July 4, 2018
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1Sarah A Cumming, Mark J Hamilton, Yvonne Robb, et al.
Neuromuscular Disorders : NMD|April 1, 2022
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1Mark J Hamilton, Antonio Atalaia, John McLean, et al.
Journal of Medical Genetics|April 8, 2022
<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrumMagdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, et al.
Science Signaling|September 27, 2022
Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibitionCaila A Pilo, Timothy R Baffi, Alexandr P Kornev, et al.
Plos One|April 7, 2017
Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up studyMark J Hamilton, Yvonne Robb, Sarah Cumming, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Pageof 6