Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia-Reference-Cited by-同舟云学术

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

Published:2023-02 Issue:1 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Ghorbani Fatemeh¹,de Boer Eddy N.¹,Benjamins-Stok Marloes¹,Verschuuren-Bemelmans Corien C.¹,Knapper Jurjen¹,de Boer-Bergsma Jelkje¹,de Vries Jeroen J.¹,Sikkema-Raddatz Birgit¹,Verbeek Dineke S.¹,Westers Helga¹^ORCID,van Diemen Cleo C.¹^ORCID

Affiliation:

1. From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200050

Reference27 articles.

1. Hereditary ataxias: overview

2. Spinocerebellar ataxias (SCAs) caused by common mutations

3. The Spinocerebellar Ataxias

4. Copy Number Variation: What Is It and What Has It Told Us About Child Psychiatric Disorders?

5. Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

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