Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14-Reference-Cited by-同舟云学术

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Published:2018-03-30 Issue:7 Volume:33 Page:1119-1129
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Chelban Viorica¹²³,Wiethoff Sarah¹⁴,Fabian-Jessing Bjørn K.⁵,Haridy Nourelhoda A.¹⁶,Khan Alaa¹,Efthymiou Stephanie¹,Becker Esther B. E.⁷,O'Connor Emer¹,Hersheson Joshua¹,Newland Katrina¹,Hojland Allan Thomas⁵,Gregersen Pernille A.⁸,Lindquist Suzanne G.⁹¹⁰,Petersen Michael B.⁵,Nielsen Jørgen E.⁹,Nielsen Michael¹¹,Wood Nicholas W.¹²,Giunti Paola¹²,Houlden Henry¹²

Affiliation:

1. Department of Molecular Neuroscience; University College London, Institute of Neurology; London UK

2. National Hospital for Neurology and Neurosurgery; London UK

3. Department of Neurology and Neurosurgery; Institute of Emergency Medicine; Chisinau Republic of Moldova

4. Center for Neurology and Hertie Institute for Clinical Brain Research; Eberhard-Karls-University; Tübingen Germany

5. Department of Clinical Genetics; Aalborg University Hospital; Aalborg Denmark

6. Department of Neurology and Psychiatry; Assiut University Hospital, Faculty of Medicine; Assiut Egypt

7. Department of Physiology, Anatomy and Genetics; University of Oxford; Oxford UK

8. Department of Clinical Genetics; Aarhus University Hospital; Aarhus Denmark

9. Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet; University of Copenhagen; Copenhagen Denmark

10. Department of Clinical Genetics, Rigshospitalet; University of Copenhagen; Copenhagen Denmark

11. Department of Neurology; Aalborg University Hospital; Aalborg Denmark

12. Deparmtent of Molecular Neuroscience; Ataxia Centre UCL, Institute of Neurology; London UK

Funder

Medical Research Council

Wellcome Trust

Brain Research Trust

The MSA Trust

European Union Seventh Framework Programme

Ataxia UK

British Neurological Surveillance Unit

National Institute for Health Research

UCLH

Biomedical Research Centre

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.27334/fullpdf

Reference34 articles.

1. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population;Verbeek;Hum Genet,2005

2. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14;Klebe;Ann Neurol,2005

3. The clinical and genetic spectrum of spinocerebellar ataxia 14;Chen;Neurology,2005

4. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene;Fahey;J Neurol Neurosurg Psychiatry,2005

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