Houlden H - Search Results

1

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Dusi S, et al. Among authors: houlden h. Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360804 Free PMC article.

2

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

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

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.

5

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

6

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ. Kruer MC, et al. Among authors: houlden h. Ann Neurol. 2010 Nov;68(5):611-8. doi: 10.1002/ana.22122. Ann Neurol. 2010. PMID: 20853438 Free PMC article.

7

Neuroimaging features of neurodegeneration with brain iron accumulation.

Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, Anderson JC, Rooney WD, Hogarth P, Hayflick SJ. Kruer MC, et al. Among authors: houlden h. AJNR Am J Neuroradiol. 2012 Mar;33(3):407-14. doi: 10.3174/ajnr.A2677. Epub 2011 Sep 15. AJNR Am J Neuroradiol. 2012. PMID: 21920862 Free PMC article. Review.

8

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Johnson JO, et al. Among authors: houlden h. Brain. 2012 Sep;135(Pt 9):2875-82. doi: 10.1093/brain/aws161. Epub 2012 Jun 26. Brain. 2012. PMID: 22740598 Free PMC article.

9

Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.

Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H. Kruer MC, et al. Among authors: houlden h. Neurosci Lett. 2012 Aug 8;523(1):35-8. doi: 10.1016/j.neulet.2012.06.036. Epub 2012 Jun 25. Neurosci Lett. 2012. PMID: 22743658 Free PMC article.

10

A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'.

Houlden H. Houlden H. J Hum Genet. 2012 Sep;57(9):555. doi: 10.1038/jhg.2012.88. Epub 2012 Jul 12. J Hum Genet. 2012. PMID: 22786578 No abstract available.

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