1 | ALS5, CMT2X, SPG11 |
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. | |
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. | |
Brain 139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. 2016 | |
2 | ALS1, ALS2, ALS3, ALS4, ALS5, ALS6, ALS7, ALS8, NEFH, VEGFA, SMN1, SMN2, SLC1A2, GRIA2 |
Complex genetics of amyotrophic lateral sclerosis. | |
Kunst CB. | |
Am J Hum Genet 75(6):933-47. Epub 2004 Oct 11. No abstract available. 2004 | |
3 | ALS1, ALS2, ALS3, ALS4 , ALS5, VEGFA |
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. | |
Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P. | |
Nat Genet 34(4):383-94. 2003 | |
4 | ALS4, ALS5 |
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. | |
Chance PF, et al. | |
Am J Hum Genet 62 : 633-640. 1998 | |
5 | ALS5 |
Linkage of a common locus for recessive amyotrophic lateral sclerosis. (abstr) | |
Hentati A, et al. | |
Am J Hum Genet 61 : A279. 1997 | |