Houlden H - Search Results

1

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.

Wiethoff S, Xiromerisiou G, Bettencourt C, Kioumi A, Tsiptsios I, Tychalas A, Evaggelia M, George K, Makris V, Hardy J, Houlden H. Wiethoff S, et al. Among authors: houlden h. J Neurol Sci. 2014 Apr 15;339(1-2):220-2. doi: 10.1016/j.jns.2014.01.034. Epub 2014 Feb 1. J Neurol Sci. 2014. PMID: 24529944 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

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

4

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.

5

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.

6

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.

Luigetti M, Pizzuti A, Bartoletti S, Houlden H, Pirro C, Bottillo I, Madia F, Conte A, Tonali PA, Sabatelli M. Luigetti M, et al. Among authors: houlden h. J Neurol Sci. 2010 Mar 15;290(1-2):150-2. doi: 10.1016/j.jns.2009.12.005. Epub 2010 Jan 6. J Neurol Sci. 2010. PMID: 20051279

7

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. Houlden H, et al. Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d. Neurology. 2010. PMID: 20211909 Free PMC article.

8

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.

Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J. Schorge S, et al. Among authors: houlden h. Trends Neurosci. 2010 May;33(5):211-9. doi: 10.1016/j.tins.2010.02.005. Epub 2010 Mar 11. Trends Neurosci. 2010. PMID: 20226542 Free PMC article.

9

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.

Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP. Schneider SA, et al. Among authors: houlden h. Mov Disord. 2010 Jun 15;25(8):979-84. doi: 10.1002/mds.22947. Mov Disord. 2010. PMID: 20310007

10

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.

Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H. Paisán-Ruiz C, et al. Among authors: houlden h. Neurobiol Aging. 2012 Apr;33(4):814-23. doi: 10.1016/j.neurobiolaging.2010.05.009. Epub 2010 Jul 21. Neurobiol Aging. 2012. PMID: 20619503 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

955 results

Search Page

Filters