STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity ; volume:9 ; number:1 ; day:26 ; month:9 ; year:2014 ; pages:1-12 ; date:12.2014
Orphanet journal of rare diseases ; 9, Heft 1 (26.9.2014), 1-12, 12.2014

Creator: Heimdal, Ketil

Contributor: Sanchez-Guixé, Monica
Aukrust, Ingvild
Bollerslev, Jens
Bruland, Ove
Jablonski, Greg Eigner
Erichsen, Anne Kjersti
Gude, Einar
Koht, Jeanette A.
Erdal, Sigrid
Fiskerstrand, Torunn
Haukanes, Bjørn Ivar
Boman, Helge
Bjørkhaug, Lise
Tallaksen, Chantal ME
Knappskog, Per M.
Johansson, Stefan
SpringerLink (Online service)

DOI: 10.1186/s13023-014-0146-0

URN: urn:nbn:de:1111-2016050124043

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:03 AM CEST

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Associated

Heimdal, Ketil
Sanchez-Guixé, Monica
Aukrust, Ingvild
Bollerslev, Jens
Bruland, Ove
Jablonski, Greg Eigner
Erichsen, Anne Kjersti
Gude, Einar
Koht, Jeanette A.
Erdal, Sigrid
Fiskerstrand, Torunn
Haukanes, Bjørn Ivar
Boman, Helge
Bjørkhaug, Lise
Tallaksen, Chantal ME
Knappskog, Per M.
Johansson, Stefan
SpringerLink (Online service)

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STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

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Other Objects (12)

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Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy

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