Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies-Reference-Cited by-同舟云学术

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

Published:2018-03-26 Issue:6 Volume:25 Page:841-847
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Nilipour Y.¹,Nafissi S.²,Tjust A. E.³⁴,Ravenscroft G.⁵,Hossein Nejad Nedai H.⁶,Taylor R. L.⁵,Varasteh V.⁶,Pedrosa Domellöf F.³⁴,Zangi M.⁷,Tonekaboni S. H.¹,Olivé M.⁸,Kiiski K.⁹,Sagath L.⁹^ORCID,Davis M. R.¹⁰,Laing N. G.⁵,Tajsharghi H.⁵¹¹^ORCID

Affiliation:

1. Pediatric Pathology Research Centre; Mofid Children's Hospital; Shahid Beheshti University of Medical Sciences; Tehran

2. Department of Neurology; Tehran University of Medical Sciences; Tehran Iran

3. Department of Integrative Medical Biology; Umeå University; Umeå

4. Department of Clinical Sciences; Umeå University; Umeå Sweden

5. Centre for Medical Research; University of Western Australia and Harry Perkins Institute for Medical Research; Nedlands WA Australia

6. Department of Pathology; Shahid Beheshti University of Medical Sciences; Tehran

7. Tracheal Diseases Research Center (TDRC); National Research Institute of Tuberculosis and Lung Diseases (NRITLD); Shahid Beheshti University of Medical Sciences; Tehran Iran

8. Department of Pathology and Neuromuscular Unit; IDIBELL-Hospital de Bellvitge; Barcelona Spain

9. Department of Medical and Clinical Genetics; Folkhälsan Institute of Genetics; Medicum; University of Helsinki; Helsinki Finland

10. Department of Diagnostic Genomics; Pathwest; QEII Medical Centre; Nedlands WA Australia

11. Division of Biomedicine; School of Health and Education; University of Skövde; Skövde Sweden

Funder

Vetenskapsrådet

Svenska Läkaresällskapet

Seventh Framework Programme

Västerbotten Läns Landsting

Fondo de Investigaciones Sanitarias (FIS)

Instituto de Salud Carlos III

Federación Española de Enfermedades Raras

National Health and Medical Research Council

European Union Collaborative

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13607/fullpdf

Reference22 articles.

1. Congenital myopathies;Romero;Handb Clin Neurol,2013

2. Nemaline myopathy: a clinical study of 143 cases;Ryan;Ann Neurol,2001

3. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy;Ravenscroft;Am J Hum Genet,2013

4. Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy;Ong;J Neurol Neurosurg Psychiatry,2014

5. A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy;Malfatti;J Neuromuscul Dis,2015

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