Houlden H - Search Results

1

Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy.

Houlden H, Reilly MM, Smith S. Houlden H, et al. Eye (Lond). 2009 Apr;23(4):966-74. doi: 10.1038/eye.2008.221. Epub 2008 Jul 18. Eye (Lond). 2009. PMID: 18636082

2

Genetic characterization of a familial non-specific dementia originating in Jutland, Denmark.

Brown J, Gydesen S, Sorensen SA, Brun A, Smith S, Houlden H, Twells R, Mullan M, Rossor M, Collinge J, et al. Brown J, et al. Among authors: houlden h. J Neurol Sci. 1993 Feb;114(2):138-43. doi: 10.1016/0022-510x(93)90288-a. J Neurol Sci. 1993. PMID: 8445394

3

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. Among authors: houlden h. 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.

4

A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK. Houlden H, et al. Ann Neurol. 2001 Apr;49(4):521-5. Ann Neurol. 2001. PMID: 11310631

5

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.

Houlden H, King RH, Wood NW, Thomas PK, Reilly MM. Houlden H, et al. Brain. 2001 May;124(Pt 5):907-15. doi: 10.1093/brain/124.5.907. Brain. 2001. PMID: 11335693

6

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.

7

Clinical and genetic characterization of families with triple A (Allgrove) syndrome.

Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM. Houlden H, et al. Brain. 2002 Dec;125(Pt 12):2681-90. doi: 10.1093/brain/awf270. Brain. 2002. PMID: 12429595

8

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

9

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.

Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R. Pitt M, et al. Among authors: houlden h. Brain. 2003 Dec;126(Pt 12):2682-92. doi: 10.1093/brain/awg278. Epub 2003 Sep 23. Brain. 2003. PMID: 14506069

10

Genotypic and phenotypic heterogeneity in familial microcoria.

Bremner FD, Houlden H, Smith SE. Bremner FD, et al. Among authors: houlden h. Br J Ophthalmol. 2004 Apr;88(4):469-73. doi: 10.1136/bjo.2003.027169. Br J Ophthalmol. 2004. PMID: 15031157 Free PMC article.

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