Blar i Bergen Open Research Archive på forfatter "Koht, Jeanette"

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    • Fever-related ataxia: a case report of CAPOS syndrome 

      Stenshorne, Ida; Rasmussen, Magnhild; Salvanos, Panagiotis; Tallaksen, Chantal; Bindoff, Laurence; Koht, Jeanette (Journal article; Peer reviewed, 2019)
      Background: CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene ...

    • 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 ...