Blar i Department of Clinical Science på emneord "Ataxia"
Viser treff 1-2 av 2
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Friedreich ataxia in Norway - An epidemiological, molecular and clinical study Rare neurological diseases
(Peer reviewed; Journal article, 2015-09-04)Background: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and ... -
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
(Peer reviewed; Journal article, 2014-09-26)Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is ...