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198 results

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Page 1
Identification of PEX7 as the second gene involved in Refsum disease.
Van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. Van den Brink DM, et al. Among authors: de belleroche j. Adv Exp Med Biol. 2003;544:69-70. doi: 10.1007/978-1-4419-9072-3_9. Adv Exp Med Biol. 2003. PMID: 14713215 No abstract available.
Identification of PEX7 as the second gene involved in Refsum disease.
van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. van den Brink DM, et al. Among authors: de belleroche j. Am J Hum Genet. 2003 Feb;72(2):471-7. doi: 10.1086/346093. Epub 2003 Jan 9. Am J Hum Genet. 2003. PMID: 12522768 Free PMC article.
Identification of genetic heterogeneity in Refsum's disease.
Wierzbicki AS, Mitchell J, Lambert-Hammill M, Hancock M, Greenwood J, Sidey MC, de Belleroche J, Gibberd FB. Wierzbicki AS, et al. Among authors: de belleroche j. Eur J Hum Genet. 2000 Aug;8(8):649-51. doi: 10.1038/sj.ejhg.5200511. Eur J Hum Genet. 2000. PMID: 10951529
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE. Sreedharan J, et al. Among authors: de belleroche j. Science. 2008 Mar 21;319(5870):1668-72. doi: 10.1126/science.1154584. Epub 2008 Feb 28. Science. 2008. PMID: 18309045 Free PMC article.
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.
Mitchell J, Paul P, Chen HJ, Morris A, Payling M, Falchi M, Habgood J, Panoutsou S, Winkler S, Tisato V, Hajitou A, Smith B, Vance C, Shaw C, Mazarakis ND, de Belleroche J. Mitchell J, et al. Among authors: de belleroche j. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7556-61. doi: 10.1073/pnas.0914128107. Epub 2010 Apr 5. Proc Natl Acad Sci U S A. 2010. PMID: 20368421 Free PMC article.
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE. Smith BN, et al. Among authors: de belleroche j. Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692064 Free PMC article.
198 results