Houlden H - Search Results

1

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.

Breza M, Bourinaris T, Efthymiou S, Maroofian R, Athanasiou-Fragkouli A, Tzartos J, Velonakis G, Karavasilis E, Angelopoulou G, Kasselimis D, Potagas C, Stefanis L, Karadima G, Koutsis G, Houlden H. Breza M, et al. Among authors: houlden h. Brain. 2020 Jun 1;143(6):e49. doi: 10.1093/brain/awaa120. Brain. 2020. PMID: 32428220 Free PMC article. No abstract available.

2

Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.

Koutsis G, Karadima G, Pandraud A, Sweeney MG, Paudel R, Houlden H, Wood NW, Panas M. Koutsis G, et al. Among authors: houlden h. J Neurol. 2012 Sep;259(9):1874-8. doi: 10.1007/s00415-012-6430-9. J Neurol. 2012. PMID: 22297462

3

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

Koutsis G, Pandraud A, Polke JM, Wood NW, Panas M, Karadima G, Houlden H. Koutsis G, et al. Among authors: houlden h. Brain. 2012 Aug;135(Pt 8):e217, 1-6; author reply e218, 1-2. doi: 10.1093/brain/aws034. Epub 2012 Mar 1. Brain. 2012. PMID: 22382358 Free PMC article. No abstract available.

4

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.

5

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia.

Koutsis G, Pemble S, Sweeney MG, Paudel R, Wood NW, Panas M, Kladi A, Houlden H. Koutsis G, et al. Among authors: houlden h. J Neurol Sci. 2012 Jul 15;318(1-2):178-80. doi: 10.1016/j.jns.2012.03.019. Epub 2012 Apr 18. J Neurol Sci. 2012. PMID: 22520093 Free article.

6

The frequency of spinocerebellar ataxia type 23 in a UK population.

Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, Revesz T, Koutsis G, Herscheson J, Schottlaender L, Wardle M, Morrison PJ, Morris HR, Giunti P, Wood N, Houlden H. Fawcett K, et al. Among authors: houlden h. J Neurol. 2013 Mar;260(3):856-9. doi: 10.1007/s00415-012-6721-1. Epub 2012 Oct 30. J Neurol. 2013. PMID: 23108490

7

Friedreich's ataxia and other hereditary ataxias in Greece: an 18-year perspective.

Koutsis G, Kladi A, Karadima G, Houlden H, Wood NW, Christodoulou K, Panas M. Koutsis G, et al. Among authors: houlden h. J Neurol Sci. 2014 Jan 15;336(1-2):87-92. doi: 10.1016/j.jns.2013.10.012. Epub 2013 Oct 16. J Neurol Sci. 2014. PMID: 24209901

8

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H. Hersheson J, et al. Among authors: houlden h. Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981. Epub 2014 Oct 8. Neurology. 2014. PMID: 25298308 Free PMC article. No abstract available.

9

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

Koutsis G, Lynch D, Manole A, Karadima G, Reilly MM, Houlden H, Panas M. Koutsis G, et al. Among authors: houlden h. J Neurol. 2015 Aug;262(8):1972-5. doi: 10.1007/s00415-015-7800-x. Epub 2015 Jun 6. J Neurol. 2015. PMID: 26048687 No abstract available.

10

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

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