Patel H - Search Results

1

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

Wilkinson PA, Simpson MA, Bastaki L, Patel H, Reed JA, Kalidas K, Samilchuk E, Khan R, Warner TT, Crosby AH. Wilkinson PA, et al. Among authors: patel h. J Med Genet. 2005 Jan;42(1):80-2. doi: 10.1136/jmg.2004.020172. J Med Genet. 2005. PMID: 15635080 Free PMC article. No abstract available.

2

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

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

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

6

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

7

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

8

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.

9

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.

Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH. Wilkinson PA, et al. Among authors: patel h. J Neurol Sci. 2003 Dec 15;216(1):43-5. doi: 10.1016/s0022-510x(03)00210-7. J Neurol Sci. 2003. PMID: 14607301

10

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

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