Patel H - Search Results

1

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

2

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

3

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

4

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

5

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.

6

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

7

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

8

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

9

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH. Ciccarelli FD, et al. Among authors: patel h. Genomics. 2003 Apr;81(4):437-41. doi: 10.1016/s0888-7543(03)00011-9. Genomics. 2003. PMID: 12676568

10

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Windpassinger C, et al. Among authors: patel h. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22. Nat Genet. 2004. PMID: 14981520

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