Wood NW - Search Results

1

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group; Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H. Chelban V, et al. Among authors: wood nw. Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. Am J Hum Genet. 2017. PMID: 28575651 Free PMC article.

2

Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

Chalmers RM, Davis MB, Sweeney MG, Wood NW, Harding AE. Chalmers RM, et al. Among authors: wood nw. Am J Hum Genet. 1996 Jul;59(1):103-8. Am J Hum Genet. 1996. PMID: 8659512 Free PMC article.

3

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE. Bandmann O, et al. Among authors: wood nw. Hum Mol Genet. 1996 Mar;5(3):403-6. doi: 10.1093/hmg/5.3.403. Hum Mol Genet. 1996. PMID: 8852666

4

Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).

Vaughan JR, Farrer MJ, Wszolek ZK, Gasser T, Durr A, Agid Y, Bonifati V, DeMichele G, Volpe G, Lincoln S, Breteler M, Meco G, Brice A, Marsden CD, Hardy J, Wood NW. Vaughan JR, et al. Among authors: wood nw. Hum Mol Genet. 1998 Apr;7(4):751-3. doi: 10.1093/hmg/7.4.751. Hum Mol Genet. 1998. PMID: 9499430

5

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW. Hanna MG, et al. Among authors: wood nw. Am J Hum Genet. 1998 Jul;63(1):29-36. doi: 10.1086/301910. Am J Hum Genet. 1998. PMID: 9634511 Free PMC article.

6

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.

Giunti P, Stevanin G, Worth PF, David G, Brice A, Wood NW. Giunti P, et al. Among authors: wood nw. Am J Hum Genet. 1999 Jun;64(6):1594-603. doi: 10.1086/302406. Am J Hum Genet. 1999. PMID: 10330346 Free PMC article.

7

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW. Worth PF, et al. Among authors: wood nw. Am J Hum Genet. 1999 Aug;65(2):420-6. doi: 10.1086/302495. Am J Hum Genet. 1999. PMID: 10417284 Free PMC article.

8

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia.

Worth PF, Houlden H, Giunti P, Davis MB, Wood NW. Worth PF, et al. Among authors: wood nw. Nat Genet. 2000 Mar;24(3):214-5. doi: 10.1038/73411. Nat Genet. 2000. PMID: 10700168 No abstract available.

9

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations.

Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T. Houlden H, et al. Among authors: wood nw. Ann Neurol. 2000 Nov;48(5):806-8. Ann Neurol. 2000. PMID: 11079548

10

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N. McEntagart M, et al. Am J Hum Genet. 2001 May;68(5):1270-6. doi: 10.1086/320122. Epub 2001 Apr 4. Am J Hum Genet. 2001. PMID: 11294660 Free PMC article.

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