Houlden H - Search Results

1

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Landouré G, et al. Among authors: houlden h. Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037586 Free PMC article.

2

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.

Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, et al. Chartier-Harlin MC, et al. Among authors: houlden h. Nature. 1991 Oct 31;353(6347):844-6. doi: 10.1038/353844a0. Nature. 1991. PMID: 1944558

3

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.

4

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Houlden H, Reilly MM. Houlden H, et al. Neuromolecular Med. 2006;8(1-2):43-62. doi: 10.1385/nmm:8:1-2:43. Neuromolecular Med. 2006. PMID: 16775366 Review.

5

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. Houlden H, et al. Nat Genet. 2007 Dec;39(12):1434-6. doi: 10.1038/ng.2007.43. Epub 2007 Nov 25. Nat Genet. 2007. PMID: 18037885

6

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.

Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, Reilly MM. Houlden H, et al. Neurology. 2008 Nov 18;71(21):1660-8. doi: 10.1212/01.wnl.0000319696.14225.67. Epub 2008 Oct 1. Neurology. 2008. PMID: 18832141

7

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

Houlden H, Hammans S, Katifi H, Reilly MM. Houlden H, et al. Neurology. 2009 Feb 17;72(7):617-20. doi: 10.1212/01.wnl.0000342463.35089.cc. Neurology. 2009. PMID: 19221294 Free PMC article.

8

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.

Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM. Houlden H, et al. Neuromuscul Disord. 2009 Apr;19(4):264-9. doi: 10.1016/j.nmd.2009.01.006. Epub 2009 Mar 9. Neuromuscul Disord. 2009. PMID: 19272779

9

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Neumann J, et al. Among authors: houlden h. Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13. Brain. 2009. PMID: 19286695 Free PMC article.

10

Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.

Segarane B, Li A, Paudel R, Scholz S, Neumann J, Lees A, Revesz T, Hardy J, Mathias CJ, Wood NW, Holton J, Houlden H. Segarane B, et al. Among authors: houlden h. Neurology. 2009 Mar 31;72(13):1185-6. doi: 10.1212/01.wnl.0000345356.40399.eb. Neurology. 2009. PMID: 19332698 Free PMC article. Review. No abstract available.

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