Browsing SIHF Open Archive by Author "Brauteset, Lin"
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HINT1 neuropathy in Norway: clinical, genetic and functional profiling
Høyer, Helle; Amor-Barris, Silvia; Brauteset, Lin; De Vriendt, Els; Strand, Linda; Jordanova, Albena; Braathen, Geir Julius; Peeters, Kristien (Peer reviewed; Journal article, 2021)Background: Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high ... -
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L; Liang, Robin Amanda; Abdel-Hamid, Mohamed S; Sultan, Tipu; Barøy, Tuva; Van Ghelue, Marijke; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S; Zaki, Maha S; Severino, Mariasavina; Duru, Kingsley C; Tryon, Robert C; Brauteset, Lin; Ansari, Morad; Hamilton, Mark; Van Haelst, Mieke M; Van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Éric; Nichols, Colin G; Smeland, Marie Louise Falkenberg; McClenaghan, Conor (Peer reviewed; Journal article, 2024)Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome ...