Houlden H - Search Results

1

De novo KCNA2 mutations cause hereditary spastic paraplegia.

Manole A, Männikkö R, Hanna MG; SYNAPS study group; Kullmann DM, Houlden H. Manole A, et al. Among authors: houlden h. Ann Neurol. 2017 Feb;81(2):326-328. doi: 10.1002/ana.24866. Ann Neurol. 2017. PMID: 28032718 No abstract available.

2

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations.

Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T. Houlden H, et al. Ann Neurol. 2000 Nov;48(5):806-8. Ann Neurol. 2000. PMID: 11079548

3

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

4

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.

Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. Paisan-Ruiz C, et al. Among authors: houlden h. Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12. Neurology. 2008. PMID: 18337587 Free PMC article.

5

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H. Paisan-Ruiz C, et al. Among authors: houlden h. Eur J Neurol. 2008 Oct;15(10):1065-70. doi: 10.1111/j.1468-1331.2008.02247.x. Epub 2008 Aug 20. Eur J Neurol. 2008. PMID: 18717728 Free PMC article.

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

The small, spastic, and furrowed tongue of Allgrove syndrome.

Houlden H. Houlden H. Neurology. 2009 Apr 14;72(15):1366. doi: 10.1212/WNL.0b013e3181a0fe97. Neurology. 2009. PMID: 19365062 Free PMC article. No abstract available.

8

Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.

Cleeter M, Houlden H, Simons P, Al-Shawi R, Stevanin G, Durr A, Hsuan J, Warner TT. Cleeter M, et al. Among authors: houlden h. Amyotroph Lateral Scler. 2011 Mar;12(2):148-9. doi: 10.3109/17482968.2010.543689. Epub 2010 Dec 30. Amyotroph Lateral Scler. 2011. PMID: 21190509

9

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

Proukakis C, Moore D, Labrum R, Wood NW, Houlden H. Proukakis C, et al. Among authors: houlden h. J Neurol Sci. 2011 Jul 15;306(1-2):62-5. doi: 10.1016/j.jns.2011.03.043. Epub 2011 May 5. J Neurol Sci. 2011. PMID: 21546041 Review.

10

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M. Davidson G, et al. Among authors: houlden h. J Neurol. 2012 Aug;259(8):1673-85. doi: 10.1007/s00415-011-6397-y. J Neurol. 2012. PMID: 22302274 Free PMC article.

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