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

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Standort: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Umfang: Online-Ressource

Sprache: Englisch

Anmerkungen: online resource.

Erschienen in: 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

Urheber: Heimdal, Ketil

Beteiligte Personen und Organisationen: 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

Rechteinformation: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Letzte Aktualisierung: 14.08.2025, 11:03 MESZ

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Beteiligte

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

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