Houlden H - Search Results

1

Call for participation in the neurogenetics consortium within the Human Variome Project.

Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, Robinson PN, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ. Haworth A, et al. Among authors: houlden h. Neurogenetics. 2011 Aug;12(3):169-73. doi: 10.1007/s10048-011-0287-4. Epub 2011 Jun 1. Neurogenetics. 2011. PMID: 21630033

2

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Lee MJ, Nelson I, Houlden H, Sweeney MG, Hilton-Jones D, Blake J, Wood NW, Reilly MM. Lee MJ, et al. Among authors: houlden h. J Neurol Neurosurg Psychiatry. 2002 Sep;73(3):304-6. doi: 10.1136/jnnp.73.3.304. J Neurol Neurosurg Psychiatry. 2002. PMID: 12185164 Free PMC article.

3

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.

Lee MJ, Stephenson DA, Groves MJ, Sweeney MG, Davis MB, An SF, Houlden H, Salih MA, Timmerman V, de Jonghe P, Auer-Grumbach M, Di Maria E, Scaravilli F, Wood NW, Reilly MM. Lee MJ, et al. Among authors: houlden h. Hum Mol Genet. 2003 Aug 1;12(15):1917-25. doi: 10.1093/hmg/ddg198. Hum Mol Genet. 2003. PMID: 12874111

4

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.

Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW. Houlden H, et al. Neurology. 2003 Nov 25;61(10):1423-6. doi: 10.1212/01.wnl.0000094120.09977.92. Neurology. 2003. PMID: 14638969

5

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.

Novak MJ, Sweeney MG, Li A, Treacy C, Chandrashekar HS, Giunti P, Goold RG, Davis MB, Houlden H, Tabrizi SJ. Novak MJ, et al. Among authors: houlden h. Mov Disord. 2010 Oct 15;25(13):2176-82. doi: 10.1002/mds.23223. Mov Disord. 2010. PMID: 20669319

6

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

Murphy SM, Polke J, Manji H, Blake J, Reiniger L, Sweeney M, Houlden H, Brandner S, Reilly MM. Murphy SM, et al. Among authors: houlden h. J Peripher Nerv Syst. 2011 Mar;16(1):65-70. doi: 10.1111/j.1529-8027.2011.00321.x. J Peripher Nerv Syst. 2011. PMID: 21504505

7

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

Polke JM, Laurá M, Pareyson D, Taroni F, Milani M, Bergamin G, Gibbons VS, Houlden H, Chamley SC, Blake J, Devile C, Sandford R, Sweeney MG, Davis MB, Reilly MM. Polke JM, et al. Among authors: houlden h. Neurology. 2011 Jul 12;77(2):168-73. doi: 10.1212/WNL.0b013e3182242d4d. Epub 2011 Jun 29. Neurology. 2011. PMID: 21715711 Free PMC article.

8

Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.

Koutsis G, Karadima G, Pandraud A, Sweeney MG, Paudel R, Houlden H, Wood NW, Panas M. Koutsis G, et al. Among authors: houlden h. J Neurol. 2012 Sep;259(9):1874-8. doi: 10.1007/s00415-012-6430-9. J Neurol. 2012. PMID: 22297462

9

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia.

Koutsis G, Pemble S, Sweeney MG, Paudel R, Wood NW, Panas M, Kladi A, Houlden H. Koutsis G, et al. Among authors: houlden h. J Neurol Sci. 2012 Jul 15;318(1-2):178-80. doi: 10.1016/j.jns.2012.03.019. Epub 2012 Apr 18. J Neurol Sci. 2012. PMID: 22520093 Free article.

10

The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.

Hersheson J, Haworth A, Houlden H. Hersheson J, et al. Among authors: houlden h. Hum Mutat. 2012 Sep;33(9):1324-32. doi: 10.1002/humu.22132. Epub 2012 Jul 2. Hum Mutat. 2012. PMID: 22689585 Review.

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