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

Orphanet journal of rare diseases

Volumn 9, Issue , 2014, Pages 146-

  Heimdal, Ketil ^a   Sanchez Guixé, Monica ^a   Aukrust, Ingvild ^a   Bollerslev, Jens ^a   Bruland, Ove ^a   Jablonski, Greg E igner ^a   Erichsen, Anne K jersti ^a   Gude, Einar ^a   Koht, Jeanette A ^a   Erdal, Sigrid ^a   Fiskerstrand, Torunn ^a   Haukanes, Bjørn Ivar ^a   Boman, Helge ^a   Bjørkhaug, Lise ^a   Tallaksen, Chantal M E ^a   Knappskog, Per M ^a   Johansson, Stefan ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

STUB1 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADULT; ATAXIA; FEMALE; GENETICS; HOMOZYGOTE; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; RECESSIVE GENE; YOUNG ADULT;

ADULT; ATAXIA; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 84925883648     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0146-0     Document Type: Article

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