Long-term Natural History of Pediatric Dominant and Recessive <i>RYR1</i> -Related Myopathy-Reference-Cited by-同舟云学术

Long-term Natural History of Pediatric Dominant and Recessive RYR1 -Related Myopathy

Published:2023-10-10 Issue:15 Volume:101 Page:
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Sarkozy Anna¹,Sa Mario¹,Ridout Deborah¹,Fernandez-Garcia Miguel Angel¹,Distefano Maria Grazia¹,Main Marion¹,Sheehan Jennie¹,Manzur Adnan Y.¹,Munot Pinki¹^ORCID,Robb Stephanie¹,Wraige Elizabeth¹,Quinlivan Rosaline¹,Scoto Mariacristina¹,Baranello Giovanni¹,Gowda Vasantha¹,Mein Rachael¹,Phadke Rahul¹,Jungbluth Heinz¹,Muntoni Francesco¹^ORCID

Affiliation:

1. From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000207723

Reference25 articles.

1. Prevalence of congenital myopathies in a representative pediatric united states population

2. Congenital myopathies: Natural history of a large pediatric cohort

3. Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

4. 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016

5. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

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