Nicholson GA - Search Results

1

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF. Chen YZ, et al. Among authors: nicholson ga. Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106121 Free PMC article.

2

Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication.

Nicholson GA, Kennerson ML, Keats BJ, Mesterovic N, Churcher W, Barker D, Ross DA. Nicholson GA, et al. Am J Med Genet. 1992 Nov 1;44(4):455-60. doi: 10.1002/ajmg.1320440414. Am J Med Genet. 1992. PMID: 1442887

3

Single test for two hereditary neuropathies, CMT1A and HNPP.

Kennerson ML, Gordon MJ, Blair IP, Nicholson GA. Kennerson ML, et al. Among authors: nicholson ga. Clin Chem. 1995 Oct;41(10):1534-5. Clin Chem. 1995. PMID: 7586531 No abstract available.

4

Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.

Blair IP, Kennerson ML, Nicholson GA. Blair IP, et al. Among authors: nicholson ga. Clin Chem. 1995 Aug;41(8 Pt 1):1105-8. Clin Chem. 1995. PMID: 7628084

5

Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.

Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Berkovic SF, et al. Among authors: nicholson ga. Arch Neurol. 1994 Nov;51(11):1125-8. doi: 10.1001/archneur.1994.00540230063014. Arch Neurol. 1994. PMID: 7980108

6

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.

Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, et al. Nicholson GA, et al. Nat Genet. 1994 Mar;6(3):263-6. doi: 10.1038/ng0394-263. Nat Genet. 1994. PMID: 8012388

7

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

Blair IP, Nash J, Gordon MJ, Nicholson GA. Blair IP, et al. Among authors: nicholson ga. Am J Hum Genet. 1996 Mar;58(3):472-6. Am J Hum Genet. 1996. PMID: 8644705 Free PMC article.

8

The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.

Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, Nash J, Bananis T. Nicholson GA, et al. Nat Genet. 1996 May;13(1):101-4. doi: 10.1038/ng0596-101. Nat Genet. 1996. PMID: 8673084

9

Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1-->q22.3: exclusion of GAS1 and XPA.

Blair IP, Dawkins JL, Nicholson GA. Blair IP, et al. Among authors: nicholson ga. Cytogenet Cell Genet. 1997;78(2):140-4. doi: 10.1159/000134649. Cytogenet Cell Genet. 1997. PMID: 9371409

10

The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.

Kennerson ML, Nassif NT, Dawkins JL, DeKroon RM, Yang JG, Nicholson GA. Kennerson ML, et al. Among authors: nicholson ga. Genomics. 1997 Nov 15;46(1):61-9. doi: 10.1006/geno.1997.5012. Genomics. 1997. PMID: 9403059

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