Patel H - Search Results

1

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH. Tsaousidou MK, et al. Among authors: patel h. Am J Hum Genet. 2008 Feb;82(2):510-5. doi: 10.1016/j.ajhg.2007.10.001. Epub 2008 Jan 18. Am J Hum Genet. 2008. PMID: 18252231 Free PMC article.

2

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN. Crosby AH, et al. Among authors: patel h. Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21. Am J Hum Genet. 2010. PMID: 20970105 Free PMC article.

3

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.

Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, Crosby AH. Patel H, et al. Am J Hum Genet. 2001 Jul;69(1):209-15. doi: 10.1086/321267. Epub 2001 May 25. Am J Hum Genet. 2001. PMID: 11389484 Free PMC article.

4

Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.

Patel H, Hart PE, Warner T, Allen I, Phillimore HE, Silver JR, Wood NW, Jeffery S, Patton MA, Crosby AH. Patel H, et al. Am J Med Genet. 2001 Jul 22;102(1):68-72. doi: 10.1002/1096-8628(20010722)102:1<68::aid-ajmg1411>3.0.co;2-r. Am J Med Genet. 2001. PMID: 11471175

5

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. Patel H, et al. Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22. Nat Genet. 2002. PMID: 12134148

6

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.

Warner TT, Patel H, Proukakis C, Reed JA, McKie L, Wills A, Patton MA, Crosby AH. Warner TT, et al. Among authors: patel h. J Neurol. 2004 Sep;251(9):1068-74. doi: 10.1007/s00415-004-0401-8. J Neurol. 2004. PMID: 15372247

7

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Proukakis C, et al. Among authors: patel h. J Neurol. 2004 Sep;251(9):1105-10. doi: 10.1007/s00415-004-0491-3. J Neurol. 2004. PMID: 15372254

8

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT. Reed JA, et al. Among authors: patel h. Neurogenetics. 2005 May;6(2):79-84. doi: 10.1007/s10048-004-0209-9. Epub 2005 Feb 12. Neurogenetics. 2005. PMID: 15711826

9

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.

Robay D, Patel H, Simpson MA, Brown NA, Crosby AH. Robay D, et al. Among authors: patel h. Exp Cell Res. 2006 Sep 10;312(15):2764-77. doi: 10.1016/j.yexcr.2006.05.003. Epub 2006 May 13. Exp Cell Res. 2006. PMID: 16781711

10

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia.

Wilkinson PA, Crosby AH, Turner C, Patel H, Wood NW, Schapira AH, Warner TT. Wilkinson PA, et al. Among authors: patel h. Neurology. 2003 Jul 22;61(2):235-8. doi: 10.1212/01.wnl.0000069920.42968.8d. Neurology. 2003. PMID: 12874406

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