Log in to save to my catalogue

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7ff82b00bb2c48c0b4330cbd087d9501

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

About this item

Full title

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

Publisher

United States: John Wiley & Sons, Inc

Journal title

Clinical and Translational Medicine, 2024-01, Vol.14 (1), p.e1504-n/a

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75% of such patients remain without a genetic diagnosis. In an era of emerging disease‐modifying gene‐stratified therapies, the identification of causative alle...

Alternative Titles

Full title

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_7ff82b00bb2c48c0b4330cbd087d9501

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7ff82b00bb2c48c0b4330cbd087d9501

Other Identifiers

ISSN

2001-1326

E-ISSN

2001-1326

DOI

10.1002/ctm2.1504

How to access this item