Houlden H - Search Results

1

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G; SYNAPS Study Group; Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H. Schottlaender LV, et al. Among authors: houlden h. Am J Hum Genet. 2020 Mar 5;106(3):412-421. doi: 10.1016/j.ajhg.2020.02.007. Am J Hum Genet. 2020. PMID: 32142645 Free PMC article.

2

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.

3

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

4

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

5

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ. Green P, et al. Among authors: houlden h. Am J Hum Genet. 2010 Mar 12;86(3):485-9. doi: 10.1016/j.ajhg.2010.02.006. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206331 Free PMC article.

6

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

7

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H. Paisán-Ruiz C, et al. Among authors: houlden h. Mov Disord. 2010 Sep 15;25(12):1791-800. doi: 10.1002/mds.23221. Mov Disord. 2010. PMID: 20669327 Free PMC article.

8

Variable phenotypes are associated with PMP22 missense mutations.

Russo M, Laurá M, Polke JM, Davis MB, Blake J, Brandner S, Hughes RA, Houlden H, Bennett DL, Lunn MP, Reilly MM. Russo M, et al. Among authors: houlden h. Neuromuscul Disord. 2011 Feb;21(2):106-14. doi: 10.1016/j.nmd.2010.11.011. Epub 2010 Dec 30. Neuromuscul Disord. 2011. PMID: 21194947

9

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

Murphy SM, Polke J, Manji H, Blake J, Reiniger L, Sweeney M, Houlden H, Brandner S, Reilly MM. Murphy SM, et al. Among authors: houlden h. J Peripher Nerv Syst. 2011 Mar;16(1):65-70. doi: 10.1111/j.1529-8027.2011.00321.x. J Peripher Nerv Syst. 2011. PMID: 21504505

10

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.

Mok KY, Koutsis G, Schottlaender LV, Polke J, Panas M, Houlden H. Mok KY, et al. Among authors: houlden h. Neurobiol Aging. 2012 Aug;33(8):1851.e1-5. doi: 10.1016/j.neurobiolaging.2012.02.021. Epub 2012 Mar 22. Neurobiol Aging. 2012. PMID: 22445326 Free PMC article.

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