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Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1933601899

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

About this item

Full title

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Neurogenetics, 2017-12, Vol.18 (4), p.195-205

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

Combined and complex dystonias are heterogeneous movement disorders combining dystonia with other motor and/or systemic signs. Although we are beginning to understand the diverse molecular causes of these disease entities, clinical pattern recognition and conventional genetic workup achieve an etiological diagnosis only in a minority of cases. Our...

Alternative Titles

Full title

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1933601899

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1933601899

Other Identifiers

ISSN

1364-6745,1364-6753

E-ISSN

1364-6753

DOI

10.1007/s10048-017-0521-9

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