<scp>SCA4</scp> Unravelled After More than 25 Years Using Advanced Genomic Technologies-Reference-Cited by-同舟云学术

SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies

Published:2024-03 Issue:3 Volume:39 Page:457-461
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Rudaks Laura Ivete¹²³⁴⁵^ORCID,Yeow Dennis¹²³⁴⁶^ORCID,Kumar Kishore Raj¹²³⁴⁷^ORCID

Affiliation:

1. Translational Neurogenomics Group Concord Repatriation General Hospital Concord Australia

2. Molecular Medicine Laboratory and Neurology Department Concord Repatriation General Hospital Concord Australia

3. Concord Clinical School, Faculty of Medicine and Health The University of Sydney Concord Australia

4. Genomic and Inherited Disease Program The Garvan Institute of Medical Research Darlinghurst Australia

5. Clinical Genetics Unit Royal North Shore Hospital St Leonards Australia

6. Neurodegenerative Service Prince of Wales Hospital Randwick Australia

7. St Vincent's Healthcare Campus, Faculty of Medicine University of New South Wales (UNSW) Sydney Darlinghurst Australia

Publisher

Wiley

Reference15 articles.

1. An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

2. Long-Read Sequencing Emerging in Medical Genetics

3. Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4

4. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1;Flanigan K;Am J Hum Genet,1996

5. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

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