Ashley-Koch A - Search Results

1

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA. Reid E, et al. Am J Hum Genet. 2002 Nov;71(5):1189-94. doi: 10.1086/344210. Epub 2002 Sep 24. Am J Hum Genet. 2002. PMID: 12355402 Free PMC article.

2

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA. Svenson IK, et al. Am J Hum Genet. 2001 May;68(5):1077-85. doi: 10.1086/320111. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11309678 Free PMC article.

3

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.

Ashley-Koch A, Bonner ER, Gaskell PC, West SG, Tim R, Wolpert CM, Jones R, Farrell CD, Nance M, Svenson IK, Marchuk DA, Boustany RM, Vance JM, Scott WK, Pericak-Vance MA. Ashley-Koch A, et al. Neurogenetics. 2001 Mar;3(2):91-7. doi: 10.1007/s100480000098. Neurogenetics. 2001. PMID: 11354831

4

A second leaky splice-site mutation in the spastin gene.

Svenson IK, Ashley-Koch AE, Pericak-Vance MA, Marchuk DA. Svenson IK, et al. Am J Hum Genet. 2001 Dec;69(6):1407-9. doi: 10.1086/324593. Am J Hum Genet. 2001. PMID: 11704932 Free PMC article. No abstract available.

5

Genomic screen and follow-up analysis for autistic disorder.

Shao Y, Wolpert CM, Raiford KL, Menold MM, Donnelly SL, Ravan SA, Bass MP, McClain C, von Wendt L, Vance JM, Abramson RH, Wright HH, Ashley-Koch A, Gilbert JR, DeLong RG, Cuccaro ML, Pericak-Vance MA. Shao Y, et al. Am J Med Genet. 2002 Jan 8;114(1):99-105. doi: 10.1002/ajmg.10153. Am J Med Genet. 2002. PMID: 11840513

6

No association between the WNT2 gene and autistic disorder.

McCoy PA, Shao Y, Wolpert CM, Donnelly SL, Ashley-Koch A, Abel HL, Ravan SA, Abramson RK, Wright HH, DeLong GR, Cuccaro ML, Gilbert JR, Pericak-Vance MA. McCoy PA, et al. Am J Med Genet. 2002 Jan 8;114(1):106-9. doi: 10.1002/ajmg.10182. Am J Med Genet. 2002. PMID: 11840514

7

Identification of MeCP2 mutations in a series of females with autistic disorder.

Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA. Carney RM, et al. Pediatr Neurol. 2003 Mar;28(3):205-11. doi: 10.1016/s0887-8994(02)00624-0. Pediatr Neurol. 2003. PMID: 12770674

8

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

Yip AG, Dürr A, Marchuk DA, Ashley-Koch A, Hentati A, Rubinsztein DC, Reid E. Yip AG, et al. J Med Genet. 2003 Sep;40(9):e106. doi: 10.1136/jmg.40.9.e106. J Med Genet. 2003. PMID: 12960222 Free PMC article. No abstract available.

9

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Svenson IK, Kloos MT, Gaskell PC, Nance MA, Garbern JY, Hisanaga S, Pericak-Vance MA, Ashley-Koch AE, Marchuk DA. Svenson IK, et al. Neurogenetics. 2004 Sep;5(3):157-64. doi: 10.1007/s10048-004-0186-z. Epub 2004 Jul 10. Neurogenetics. 2004. PMID: 15248095

10

An autosomal genomic screen for dementia in an extended Amish family.

Ashley-Koch AE, Shao Y, Rimmler JB, Gaskell PC, Welsh-Bohmer KA, Jackson CE, Scott WK, Haines JL, Pericak-Vance MA. Ashley-Koch AE, et al. Neurosci Lett. 2005 May 13;379(3):199-204. doi: 10.1016/j.neulet.2004.12.065. Neurosci Lett. 2005. PMID: 15843063

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