Houlden H - Search Results

1

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

Murphy SM, Ernst D, Wei Y, Laurà M, Liu YT, Polke J, Blake J, Winer J, Houlden H, Hornemann T, Reilly MM. Murphy SM, et al. Among authors: houlden h. Neurology. 2013 Jun 4;80(23):2106-11. doi: 10.1212/WNL.0b013e318295d789. Epub 2013 May 8. Neurology. 2013. PMID: 23658386 Free PMC article.

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

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

5

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.

6

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

7

Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, Harvey RJ, Houlden H, Rossor MN, Collinge J. Janssen JC, et al. Among authors: houlden h. Neurology. 2003 Jan 28;60(2):235-9. doi: 10.1212/01.wnl.0000042088.22694.e3. Neurology. 2003. PMID: 12552037

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

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

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