Blair IP - Search Results

1

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: blair ip. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 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

Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.

Nicholson GA, Dawkins JL, Blair IP, Auer-Grumbach M, Brahmbhatt SB, Hulme DJ. Nicholson GA, et al. Among authors: blair ip. Am J Hum Genet. 2001 Sep;69(3):655-9. doi: 10.1086/323252. Epub 2001 Jul 27. Am J Hum Genet. 2001. PMID: 11479835 Free PMC article.

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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