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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. 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.
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: mitchell jd. Science. 2008 Mar 21;319(5870):1668-72. doi: 10.1126/science.1154584. Epub 2008 Feb 28. Science. 2008. PMID: 18309045 Free PMC article.
Copper, zinc superoxide dismutase (SOD1) and its role in neuronal function and disease with particular relevance to motor neurone disease/amyotrophic lateral sclerosis.
de Belleroche J, Orrell RW, Virgo L, Habgood J, Gardiner IM, Malaspina A, Kaushik N, Mitchell J, Greenwood J. de Belleroche J, et al. Among authors: mitchell j. Biochem Soc Trans. 1998 Aug;26(3):476-80. doi: 10.1042/bst0260476. Biochem Soc Trans. 1998. PMID: 9765899 Review. No abstract available.
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: mitchell j. Eur J Hum Genet. 2000 Aug;8(8):649-51. doi: 10.1038/sj.ejhg.5200511. Eur J Hum Genet. 2000. PMID: 10951529
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: mitchell 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 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: mitchell 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.
8,342 results