Houlden H - Search Results

1

Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.

Gayathri S, Gowda VK, Udhayabanu T, O'Callaghan B, Efthymiou S, Varalakshmi P, Benakappa N, Houlden H, Ashokkumar B. Gayathri S, et al. Among authors: houlden h. Eur J Neurol. 2021 Mar;28(3):945-954. doi: 10.1111/ene.14682. Epub 2021 Jan 5. Eur J Neurol. 2021. PMID: 33325104

2

Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, Harvey RJ, Houlden H, Rossor MN, Collinge J. Janssen JC, et al. Among authors: houlden h. Neurology. 2003 Jan 28;60(2):235-9. doi: 10.1212/01.wnl.0000042088.22694.e3. Neurology. 2003. PMID: 12552037

3

The small, spastic, and furrowed tongue of Allgrove syndrome.

Houlden H. Houlden H. Neurology. 2009 Apr 14;72(15):1366. doi: 10.1212/WNL.0b013e3181a0fe97. Neurology. 2009. PMID: 19365062 Free PMC article. No abstract available.

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

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

Polke JM, Laurá M, Pareyson D, Taroni F, Milani M, Bergamin G, Gibbons VS, Houlden H, Chamley SC, Blake J, Devile C, Sandford R, Sweeney MG, Davis MB, Reilly MM. Polke JM, et al. Among authors: houlden h. Neurology. 2011 Jul 12;77(2):168-73. doi: 10.1212/WNL.0b013e3182242d4d. Epub 2011 Jun 29. Neurology. 2011. PMID: 21715711 Free PMC article.

6

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.

7

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG. Pitceathly RD, et al. Among authors: houlden h. Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29. Neurology. 2012. PMID: 22933740 Free PMC article.

8

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.

Nalini A, Pandraud A, Mok K, Houlden H. Nalini A, et al. Among authors: houlden h. J Neurol Sci. 2013 Nov 15;334(1-2):119-22. doi: 10.1016/j.jns.2013.08.003. Epub 2013 Aug 13. J Neurol Sci. 2013. PMID: 24139842 Free PMC article.

9

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Foley AR, et al. Among authors: houlden h. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. Brain. 2014. PMID: 24253200 Free PMC article.

10

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.

Manole A, Fratta P, Houlden H. Manole A, et al. Among authors: houlden h. Curr Opin Neurol. 2014 Oct;27(5):506-14. doi: 10.1097/WCO.0000000000000133. Curr Opin Neurol. 2014. PMID: 25159929 Review.

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