Biallelic loss of <scp> <i>EMC10</i> </scp> leads to mild to severe intellectual disability-Reference-Cited by-同舟云学术

Biallelic loss of EMC10 leads to mild to severe intellectual disability

Published:2022-06-09 Issue:7 Volume:9 Page:1080-1089
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Kaiyrzhanov Rauan¹^ORCID,Rocca Clarissa¹^ORCID,Suri Mohnish²,Gulieva Sughra³,Zaki Maha S.⁴,Henig Noa Z.⁵,Siquier Karine⁶,Guliyeva Ulviyya³,Mounir Samir M.⁷,Marom Daphna⁵⁸,Allahverdiyeva Aynur⁹,Megahed Hisham¹⁰,van Bokhoven Hans¹¹,Cantagrel Vincent⁶,Rad Aboulfazl¹²,Pourkeramti Alemeh¹³,Dehghani Boshra¹³,Shao Diane D.¹⁴¹⁵^ORCID,Markus‐Bustani Keren¹⁶,Sofrin‐Drucker Efrat⁸¹⁷,Orenstein Naama⁸¹⁷,Salayev Kamran¹⁸,Arrigoni Filippo¹⁹,Houlden Henry¹,Maroofian Reza¹

Affiliation:

1. Department of Neuromuscular Disorders Queen Square Institute of Neurology, University College London London UK

2. Clinical Genetics Service Nottingham University Hospitals NHS Trust Nottingham UK

3. MediClub Hospital 45, Uzeyir Hajibeyli str. Baku AZ1010 Azerbaijan

4. Human Genetics and Genome Research Division, Clinical Genetics Department National Research Centre Cairo Egypt

5. Genetics Institute Tel Aviv Sourasky Medical Center Tel Aviv Israel

6. Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR Université Paris Cité Paris France

7. Pediatrics Department, Faculty of Medicine El‐Minia University Minia Egypt

8. Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

9. Child Neurology Hospital Taghi Shahbazi str. Baku AZ1065 Azerbaijan

10. Clinical Genetics Department National Research Centre Cairo Egypt

11. Deparment of Human Genetics, Donders Center for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen the Netherlands

12. Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre Eberhard Karls University Tübingen 72076 Germany

13. Medical Biotechnology Research Center Ashkezar University Ashkezar Yazd Iran

14. Department of Neurology Boston Children's Hospital Boston Massachusetts USA

15. Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA

16. Raphael Recanati Genetic Institute, Rabin Medical Center‐Beilinson Hospital Petach Tikva Israel

17. Department of Pediatric Genetics Schneider Children Medical Center of Israel Petah Tikva Israel

18. Department of Neurology Azerbaijan Medical University Baku Azerbaijan

19. Paediatric Radiology and Neuroradiology Department V. Buzzi Children's Hospital Milan Italy

Funder

Medical Research Council

Wellcome Trust

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51602

Reference22 articles.

1. EMC Is Required to Initiate Accurate Membrane Protein Topogenesis

2. The ER membrane protein complex is a transmembrane domain insertase

3. Defining human ERAD networks through an integrative mapping strategy

4. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

5. Lessons learned from additional research analyses of unsolved clinical exome cases

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