Blar i Bergen Open Research Archive på forfatter "Wedding, Iselin Marie"
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Friedreich ataxia in Norway - An epidemiological, molecular and clinical study Rare neurological diseases
Wedding, Iselin Marie; Kroken, Mette; Henriksen, Sandra Pilar; Selmer, Kaja Kristine; Fiskerstrand, Torunn; Knappskog, Per; Berge, Tone; Tallaksen, Chantal (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 ... -
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal; Tzoulis, Charalampos (Peer reviewed; Journal article, 2014-01-22)Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial ...