Houlden H - Search Results

1

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

Bibi F, Efthymiou S, Bourinaris T, Tariq A, Zafar F, Rana N, Salpietro V, Houlden H, Raja GK; SYNaPS Study Group; Saeed S, Minhas NM. Bibi F, et al. Among authors: houlden h. J Neurol Sci. 2020 Apr 15;411:116669. doi: 10.1016/j.jns.2020.116669. Epub 2020 Jan 11. J Neurol Sci. 2020. PMID: 32006740

2

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H. Paisan-Ruiz C, et al. Among authors: houlden h. Eur J Neurol. 2008 Oct;15(10):1065-70. doi: 10.1111/j.1468-1331.2008.02247.x. Epub 2008 Aug 20. Eur J Neurol. 2008. PMID: 18717728 Free PMC article.

3

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH. Dick KJ, et al. Among authors: houlden h. Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205. Hum Mutat. 2010. PMID: 20104589

4

Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.

Cleeter M, Houlden H, Simons P, Al-Shawi R, Stevanin G, Durr A, Hsuan J, Warner TT. Cleeter M, et al. Among authors: houlden h. Amyotroph Lateral Scler. 2011 Mar;12(2):148-9. doi: 10.3109/17482968.2010.543689. Epub 2010 Dec 30. Amyotroph Lateral Scler. 2011. PMID: 21190509

5

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

Proukakis C, Moore D, Labrum R, Wood NW, Houlden H. Proukakis C, et al. Among authors: houlden h. J Neurol Sci. 2011 Jul 15;306(1-2):62-5. doi: 10.1016/j.jns.2011.03.043. Epub 2011 May 5. J Neurol Sci. 2011. PMID: 21546041 Review.

6

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.

7

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.

Wiethoff S, Xiromerisiou G, Bettencourt C, Kioumi A, Tsiptsios I, Tychalas A, Evaggelia M, George K, Makris V, Hardy J, Houlden H. Wiethoff S, et al. Among authors: houlden h. J Neurol Sci. 2014 Apr 15;339(1-2):220-2. doi: 10.1016/j.jns.2014.01.034. Epub 2014 Feb 1. J Neurol Sci. 2014. PMID: 24529944 Free PMC article.

8

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H. Liu YT, et al. Among authors: houlden h. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9. Neurology. 2014. PMID: 25008398 Free PMC article.

9

Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.

Schottlaender LV, Petzold A, Wood N, Houlden H. Schottlaender LV, et al. Among authors: houlden h. J Neurol Sci. 2015 Jan 15;348(1-2):266-8. doi: 10.1016/j.jns.2014.12.008. Epub 2014 Dec 9. J Neurol Sci. 2015. PMID: 25560911

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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