Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27-Reference-Cited by-同舟云学术

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

Published:2020-03-19 Issue:1 Volume:288 Page:103-115
ISSN:0954-6820
Container-title:Journal of Internal Medicine
language:en
Short-container-title:J Intern Med

Author:

Paucar M.¹²^ORCID,Lundin J.³,Alshammari T.⁴⁵,Bergendal Å.¹,Lindefeldt M.⁶,Alshammari M.⁴⁵,Solders G.¹⁷,Di Re J.⁴⁸,Savitcheva I.⁹,Granberg T.¹¹⁰,Laezza F.⁴,Iwarsson E.³,Svenningsson P.¹²

Affiliation:

1. From theDepartments ofDepartment of Clinical Neuroscience Karolinska Institutet StockholmSweden

2. Department of Neurology Karolinska University Hospital StockholmSweden

3. Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden

4. Department of Pharmacology and Toxicology The University of Texas Medical Branch Galveston TX USA

5. Department of Pharmacology and Toxicology College of Pharmacy King Saud University Riyadh Saudi Arabia

6. Department of Pediatric Neurology Astrid Lindgren’s Hospital StockholmSweden

7. Department of Neurophysiology Karolinska University Hospital Stockholm Sweden

8. Neuroscience Graduate Program The University of Texas Medical Branch Galveston TX USA

9. Departments ofDepartment of Nuclear MedicineKarolinska University Hospital StockholmSweden

10. Department of Radiology Karolinska University Hospital Stockholm Sweden

Funder

National Institutes of Health

Stockholms Läns Landsting

Publisher

Wiley

Subject

Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/joim.13052

Reference45 articles.

1. A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

2. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

3. SCA27 caused by a chromosome translocation: further delineation of the phenotype

4. A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene

5. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

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