Blair IP - Search Results

1

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: blair ip. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.

2

Single test for two hereditary neuropathies, CMT1A and HNPP.

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

3

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

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

4

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. Am J Hum Genet. 1996 Mar;58(3):472-6. Am J Hum Genet. 1996. PMID: 8644705 Free PMC article.

5

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. Among authors: blair ip. Nat Genet. 1996 May;13(1):101-4. doi: 10.1038/ng0596-101. Nat Genet. 1996. PMID: 8673084

6

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. Cytogenet Cell Genet. 1997;78(2):140-4. doi: 10.1159/000134649. Cytogenet Cell Genet. 1997. PMID: 9371409

7

Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis.

Hulme DJ, Blair IP, Dawkins JL, Nicholson GA. Hulme DJ, et al. Among authors: blair ip. Hum Genet. 2000 Jun;106(6):594-6. doi: 10.1007/s004390000306. Hum Genet. 2000. PMID: 10942106

8

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis.

Blair IP, Vance C, Durnall JC, Williams KL, Thoeng A, Shaw CE, Nicholson GA. Blair IP, et al. J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):849-50. doi: 10.1136/jnnp.2007.140541. Epub 2008 Feb 12. J Neurol Neurosurg Psychiatry. 2008. PMID: 18270236 No abstract available.

9

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

Williams KL, Durnall JC, Thoeng AD, Warraich ST, Nicholson GA, Blair IP. Williams KL, et al. Among authors: blair ip. J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1286-8. doi: 10.1136/jnnp.2008.163261. J Neurol Neurosurg Psychiatry. 2009. PMID: 19864664

10

Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.

Drew AP, Blair IP, Nicholson GA. Drew AP, et al. Among authors: blair ip. Curr Mol Med. 2011 Nov;11(8):650-65. doi: 10.2174/156652411797536714. Curr Mol Med. 2011. PMID: 21902652 Review.

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