Houlden H - Search Results

1

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K; Muntoni F, North KN, Reilly MM. Oates EC, et al. Among authors: houlden h. Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664120 Free PMC article.

2

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.

3

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

4

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

5

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

6

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

7

Hereditary sensory neuropathies.

Houlden H, Blake J, Reilly MM. Houlden H, et al. Curr Opin Neurol. 2004 Oct;17(5):569-77. doi: 10.1097/00019052-200410000-00007. Curr Opin Neurol. 2004. PMID: 15367861 Review.

8

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.

9

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

10

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

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