Houlden H - Search Results

1

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Among authors: houlden h. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.

2

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

3

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

4

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.

5

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.

Novak MJ, Sweeney MG, Li A, Treacy C, Chandrashekar HS, Giunti P, Goold RG, Davis MB, Houlden H, Tabrizi SJ. Novak MJ, et al. Among authors: houlden h. Mov Disord. 2010 Oct 15;25(13):2176-82. doi: 10.1002/mds.23223. Mov Disord. 2010. PMID: 20669319

6

Spinocerebellar ataxia type 11.

Giunti P, Houlden H, Gardner-Thorpe C, Worth PF, Johnson J, Hilton DA, Revesz T, Davis MB, Wood NW. Giunti P, et al. Among authors: houlden h. Handb Clin Neurol. 2012;103:521-34. doi: 10.1016/B978-0-444-51892-7.00033-4. Handb Clin Neurol. 2012. PMID: 21827911 Review. No abstract available.

7

Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.

Gang Q, Bettencourt C, Machado P, Hanna MG, Houlden H. Gang Q, et al. Among authors: houlden h. Orphanet J Rare Dis. 2014 Jun 19;9:88. doi: 10.1186/1750-1172-9-88. Orphanet J Rare Dis. 2014. PMID: 24948216 Free PMC article. Review.

8

A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.

Koutsis G, Lynch DS, Tucci A, Houlden H, Karadima G, Panas M. Koutsis G, et al. Among authors: houlden h. J Neurol Sci. 2015 Aug 15;355(1-2):199-201. doi: 10.1016/j.jns.2015.05.031. Epub 2015 May 29. J Neurol Sci. 2015. PMID: 26049658

9

Genetic advances in sporadic inclusion body myositis.

Gang Q, Bettencourt C, Houlden H, Hanna MG, Machado PM. Gang Q, et al. Among authors: houlden h. Curr Opin Rheumatol. 2015 Nov;27(6):586-94. doi: 10.1097/BOR.0000000000000213. Curr Opin Rheumatol. 2015. PMID: 26335925 Review.

10

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H. Lynch DS, et al. Among authors: houlden h. Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16. Eur J Hum Genet. 2016. PMID: 26374131 Free PMC article.

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