Clinical and molecular studies in two new cases of ARSACS
Clinical and molecular studies in two new cases of ARSACS
About this item
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Scope and Contents
Contents
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodevelopmental disorder characterized by the association of spastic ataxia and sensorimotor neuropathy. Additional features include retinal changes and cognitive impairment. Today, next-generation sequencing (NGS) techniques are allowing the rapid identificatio...
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Full title
Clinical and molecular studies in two new cases of ARSACS
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TN_cdi_proquest_miscellaneous_2179416397
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2179416397
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-019-00564-7
