Houlden H - Search Results

1

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.

van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. van de Leemput J, et al. Among authors: houlden h. Mov Disord. 2010 Apr 30;25(6):771-3. doi: 10.1002/mds.22970. Mov Disord. 2010. PMID: 20437544 Free PMC article.

2

APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease.

Van Broeckhoven C, Backhovens H, Cruts M, Martin JJ, Crook R, Houlden H, Hardy J. Van Broeckhoven C, et al. Among authors: houlden h. Neurosci Lett. 1994 Mar 14;169(1-2):179-80. doi: 10.1016/0304-3940(94)90385-9. Neurosci Lett. 1994. PMID: 8047278

3

ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families.

Houlden H, Crook R, Backhovens H, Prihar G, Baker M, Hutton M, Rossor M, Martin JJ, Van Broeckhoven C, Hardy J. Houlden H, et al. Am J Med Genet. 1998 Feb 7;81(1):117-21. doi: 10.1002/(sici)1096-8628(19980207)81:1<117::aid-ajmg19>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9514597

4

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia.

Worth PF, Houlden H, Giunti P, Davis MB, Wood NW. Worth PF, et al. Among authors: houlden h. Nat Genet. 2000 Mar;24(3):214-5. doi: 10.1038/73411. Nat Genet. 2000. PMID: 10700168 No abstract available.

5

PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.

Matarin MM, Singleton AB, Houlden H. Matarin MM, et al. Among authors: houlden h. Neurosci Lett. 2006 Oct 23;407(2):162-5. doi: 10.1016/j.neulet.2006.08.030. Epub 2006 Sep 7. Neurosci Lett. 2006. PMID: 16962235

6

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. van de Leemput J, et al. Among authors: houlden h. PLoS Genet. 2007 Jun;3(6):e108. doi: 10.1371/journal.pgen.0030108. Epub 2007 May 16. PLoS Genet. 2007. PMID: 17590087 Free PMC article.

7

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. Houlden H, et al. Nat Genet. 2007 Dec;39(12):1434-6. doi: 10.1038/ng.2007.43. Epub 2007 Nov 25. Nat Genet. 2007. PMID: 18037885

8

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.

9

Clinical and genetic analysis of spinocerebellar ataxia type 11.

Johnson J, Wood N, Giunti P, Houlden H. Johnson J, et al. Among authors: houlden h. Cerebellum. 2008;7(2):159-64. doi: 10.1007/s12311-008-0022-3. Cerebellum. 2008. PMID: 18418680

10

Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Paisan-Ruiz C, et al. Among authors: houlden h. Ann Neurol. 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415. Ann Neurol. 2009. PMID: 18570303 Free PMC article.

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