Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism

Autor: Nusier Mohamad K, Horany Khalid, Zayyad Hiba, Nilsen Gina L, Stormyr Alice, Steinkjer Stina, Myhre Ronny, Klungland Helge

Publikováno v: BMC Neurology, Vol 8, Iss 1, p 47 (2008)

Abstract Background Parkinson's disease is a progressive neurodegenerative disorder, where most cases are sporadic with a late onset. In rare incidences familial forms of early-onset parkinsonism occur, and when recessively inherited, cases are often

Externí odkaz: https://doaj.org/article/acf16416c37f43d09a95597c813170a6

A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis

Autor: Skinningsrud, Beate, Lie, Benedicte A., Husebye, Eystein S., Kvien, Tore K., Førre, Øystein, Flatø, Berit, Stormyr, Alice, Joner, Geir, Njølstad, Pål R., Egeland, Thore, Undlien, Dag E.

Externí odkaz: http://hdl.handle.net/10642/637

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Autor: Barøy T; Department of Medical Genetics, University of Oslo, P,O, Box 1036, Blindern, Oslo N-0315, Norway., Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Jan 07; Vol. 8, pp. 3. Date of Electronic Publication: 2013 Jan 07.

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

Autor: Myhre R; Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway. ronny.myhre@ntnu.no, Steinkjer S, Stormyr A, Nilsen GL, Abu Zayyad H, Horany K, Nusier MK, Klungland H

Publikováno v: BMC neurology [BMC Neurol] 2008 Dec 16; Vol. 8, pp. 47. Date of Electronic Publication: 2008 Dec 16.