Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn
Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn
About this item
Full title
Author / Creator
Efthymiou, Stephanie , Novis, Luiz E. , Koutsis, Georgios , Koniari, Chrysoula , Maroofian, Reza , Turchetti, Valentina , Velonakis, Georgios , Vasconcellos, Luiz F. , Raskin, Salmo , Srinivasan, Varunvenkat M. , Pagnamenta, Alistair T. , Arun, Yaramanchanahalli B. , Kinhal, Uddhava V. , Gowda, Vykuntaraju K. , Teive, Helio A. G. and Houlden, Henry
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Bi‐allelic variants in peroxiredoxin 3 (
PRDX3
) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvemen...
Alternative Titles
Full title
Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn
Authors, Artists and Contributors
Author / Creator
Novis, Luiz E.
Koutsis, Georgios
Koniari, Chrysoula
Maroofian, Reza
Turchetti, Valentina
Velonakis, Georgios
Vasconcellos, Luiz F.
Raskin, Salmo
Srinivasan, Varunvenkat M.
Pagnamenta, Alistair T.
Arun, Yaramanchanahalli B.
Kinhal, Uddhava V.
Gowda, Vykuntaraju K.
Teive, Helio A. G.
Houlden, Henry
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a871963bb6444806854fed86a9acdb13
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a871963bb6444806854fed86a9acdb13
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51874
