Clinical and genetic characterization of PYROXD1 ‐related myopathy patients from Turkey-Reference-Cited by-同舟云学术

Clinical and genetic characterization of PYROXD1 ‐related myopathy patients from Turkey

Published:2021-03-10 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Daimagüler Hülya‐Sevcan¹²^ORCID,Akpulat Ugur¹²³,Özdemir Özkan¹²^ORCID,Yis Uluc⁴,Güngör Serdal⁵,Talim Beril⁶,Diniz Gülden⁷,Baydan Figen⁸⁹,Thiele Holger¹⁰,Altmüller Janine¹⁰,Nürnberg Peter²¹⁰,Cirak Sebahattin¹²

Affiliation:

1. Department of Pediatrics University of Cologne, Faculty of Medicine and University Hospital Cologne Cologne Germany

2. Center for Molecular Medicine Cologne (CMMC), University of Cologne Faculty of Medicine and University Hospital Cologne Cologne Germany

3. Department of Medical Biology, Faculty of Medicine Kastamonu University Kastamonu Turkey

4. Faculty of Medicine, Department of Pediatric Neurology Izmir Dokuz Eylül University Izmir Turkey

5. Faculty of Medicine, Turgut Ozal Research Center, Department of Paediatric Neurology Inönü University Malatya Malatya Turkey

6. Pediatric Pathology Unit, Department of Pediatrics Hacettepe University Ankara Ankara Turkey

7. Department of Pathology Izmir Democracy University Izmir Turkey

8. Division of Child Neurology Tepecik Training and Research Hospital İzmir Turkey

9. Neuromuscular Disease Center Tepecik Training and Research Hospital İzmir Turkey

10. Cologne Center for Genomics (CCG) University of Cologne and University Hospital Cologne Cologne Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62148

Reference24 articles.

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3. Reactive Oxygen Species Are Downstream Products of TRAF-mediated Signal Transduction

4. Congenital myopathies: an update

5. Bi‐allelic mutations in uncoordinated mutant number‐45 myosin chaperone B are a cause for congenital myopathy;Dafsari H. S.;Acta Neuropathologica Communications,2019

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