Genetic and phenotypic characterization of NKX6‐2 ‐related spastic ataxia and hypomyelination-Reference-Cited by-同舟云学术

Genetic and phenotypic characterization of NKX6‐2 ‐related spastic ataxia and hypomyelination

Published:2019-10-17 Issue:2 Volume:27 Page:334-342
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Chelban V.¹²^ORCID,Alsagob M.³,Kloth K.⁴,Chirita‐Emandi A.⁵,Vandrovcova J.¹,Maroofian R.⁶,Davagnanam I.⁷,Bakhtiari S.⁸⁹,AlSayed M. D.¹⁰,Rahbeeni Z.¹⁰,AlZaidan H.¹⁰,Malintan N. T.¹¹,Johannsen J.¹²,Efthymiou S.¹,Ghayoor Karimiani E.⁶,Mankad K.¹³,Al‐Shahrani S. A.¹⁰,Beiraghi Toosi M.¹⁴,AlShammari M.³,Groppa S.²,Haridy N. A.¹¹⁵,AlQuait L.³,Qari A.¹⁰,Huma R.¹⁰,Salih M. A.¹⁶,Almass R.³,Almutairi F. B.³,Hamad M. H.¹⁶,Alorainy I. A.¹⁷,Ramzan K.³,Imtiaz F.³,Puiu M.⁵,Kruer M. C.⁸⁹,Bierhals T.⁴,Wood N. W.¹,Colak D.¹⁸,Houlden H.¹,Kaya N.³

Affiliation:

1. Department of Neuromuscular Diseases University College London Institute of Neurology London UK

2. Department of Neurology and Neurosurgery Institute of Emergency Medicine Chisinau Moldova

3. Department of Genetics KFSHRC Riyadh Saudi Arabia

4. Institute of Human Genetics University Hospital Hamburg‐Eppendorf Hamburg Germany

5. Genetics Department University ‘Victor Babes’ Timisoara Romania

6. Genetics Research Centre, Molecular and Clinical Sciences Institute St George's University of London LondonUK

7. Brain Repair and Rehabilitation University College London Institute of Neurology London UK

8. Barrow Neurological Institute Phoenix Children's Hospital Phoenix AZUSA

9. Department of Child Health, Cellular and Molecular Medicine Department of Neurology University of Arizona College of Medicine Phoenix Phoenix AZ USA

10. Medical Genetics KFSHRC Riyadh Saudi Arabia

11. Clinical and Experimental Epilepsy University College London Institute of Neurology London UK

12. Department of Paediatrics University Hospital Hamburg‐Eppendorf Hamburg Germany

13. Great Ormond Street Hospitals London UK

14. Department of Paediatric Diseases Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran

15. Department of Neurology and Psychiatry Assiut University Hospital Assiut Egypt

16. Neurology Division, Department of Pediatrics College of Medicine, King Saud University KFSHRC Riyadh Saudi Arabia

17. Department of Radiology & Medical Imaging College of Medicine, King Saud University KFSHRC Riyadh Saudi Arabia

18. Department of Biostatistics, Epidemiology and Scientific Computing KFSHRC Riyadh Saudi Arabia

Funder

National Institute for Health Research

National Institutes of Health

Medical Research Council

Wellcome Trust

Ataxia UK

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14082

Reference17 articles.

1. Whole exome sequencing in patients with white matter abnormalities

2. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

3. Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

4. Expanding the genetic heterogeneity of intellectual disability

5. Expanding the clinical and genetic spectra of NKX6-2 -related disorder

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