Wood NW - Search Results

1

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Among authors: wood nw. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.

2

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

Giunti P, Sabbadini G, Sweeney MG, Davis MB, Veneziano L, Mantuano E, Federico A, Plasmati R, Frontali M, Wood NW. Giunti P, et al. Among authors: wood nw. Brain. 1998 Mar;121 ( Pt 3):459-67. doi: 10.1093/brain/121.3.459. Brain. 1998. PMID: 9549522

3

Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.

Marques W Jr, Thomas PK, Sweeney MG, Carr L, Wood NW. Marques W Jr, et al. Among authors: wood nw. Ann Neurol. 1998 May;43(5):680-3. doi: 10.1002/ana.410430521. Ann Neurol. 1998. PMID: 9585367

4

The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.

Vaughan J, Durr A, Tassin J, Bereznai B, Gasser T, Bonifati V, De Michele G, Fabrizio E, Volpe G, Bandmann O, Johnson WG, Golbe LI, Breteler M, Meco G, Agid Y, Brice A, Marsden CD, Wood NW. Vaughan J, et al. Among authors: wood nw. Ann Neurol. 1998 Aug;44(2):270-3. doi: 10.1002/ana.410440221. Ann Neurol. 1998. PMID: 9708553

5

Ion channels and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders.

Hanna MG, Wood NW, Kullmann DM. Hanna MG, et al. Among authors: wood nw. J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):427-31. doi: 10.1136/jnnp.65.4.427. J Neurol Neurosurg Psychiatry. 1998. PMID: 9771758 Free PMC article. Review. No abstract available.

6

Dopa-responsive dystonia: a clinical and molecular genetic study.

Bandmann O, Valente EM, Holmans P, Surtees RA, Walters JH, Wevers RA, Marsden CD, Wood NW. Bandmann O, et al. Among authors: wood nw. Ann Neurol. 1998 Oct;44(4):649-56. doi: 10.1002/ana.410440411. Ann Neurol. 1998. PMID: 9778264

7

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.

8

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG. Zuberi SM, et al. Among authors: wood nw. Brain. 1999 May;122 ( Pt 5):817-25. doi: 10.1093/brain/122.5.817. Brain. 1999. PMID: 10355668

9

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.

10

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

Pulkes T, Eunson L, Patterson V, Siddiqui A, Wood NW, Nelson IP, Morgan-Hughes JA, Hanna MG. Pulkes T, et al. Among authors: wood nw. Ann Neurol. 1999 Dec;46(6):916-9. doi: 10.1002/1531-8249(199912)46:6<916::aid-ana16>3.0.co;2-r. Ann Neurol. 1999. PMID: 10589546

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