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Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, Rouleau G, Laing NG, Hurse PV, Siddique T, Leigh PN, Powell JF. Al-Chalabi A, et al. Among authors: marklund sl. Hum Mol Genet. 1998 Dec;7(13):2045-50. doi: 10.1093/hmg/7.13.2045. Hum Mol Genet. 1998. PMID: 9817920
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients.
Andersen PM, Forsgren L, Binzer M, Nilsson P, Ala-Hurula V, Keränen ML, Bergmark L, Saarinen A, Haltia T, Tarvainen I, Kinnunen E, Udd B, Marklund SL. Andersen PM, et al. Among authors: marklund sl. Brain. 1996 Aug;119 ( Pt 4):1153-72. doi: 10.1093/brain/119.4.1153. Brain. 1996. PMID: 8813280
Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
Orrell RW, Habgood JJ, Gardiner I, King AW, Bowe FA, Hallewell RA, Marklund SL, Greenwood J, Lane RJ, deBelleroche J. Orrell RW, et al. Among authors: marklund sl. Neurology. 1997 Mar;48(3):746-51. doi: 10.1212/wnl.48.3.746. Neurology. 1997. PMID: 9065559
[Familial amyotrophic lateral sclerosis].
Keränen ML, Ala-Hurula VM, Saarinen A, Andersen PM, Marklund SL. Keränen ML, et al. Among authors: marklund sl. Duodecim. 1996;112(21):2026-30. Duodecim. 1996. PMID: 10605205 Finnish. No abstract available.
280 results