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Page 1
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: middleton lt. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.
Li YJ, Oliveira SA, Xu P, Martin ER, Stenger JE, Scherzer CR, Hauser MA, Scott WK, Small GW, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Goetz CG, Mastaglia F, Middleton LT, Roses AD, Saunders AM, Schmechel DE, Gullans SR, Haines JL, Gilbert JR, Vance JM, Pericak-Vance MA, Hulette C, Welsh-Bohmer KA. Li YJ, et al. Among authors: middleton lt. Hum Mol Genet. 2003 Dec 15;12(24):3259-67. doi: 10.1093/hmg/ddg357. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570706
Age at onset in two common neurodegenerative diseases is genetically controlled.
Li YJ, Scott WK, Hedges DJ, Zhang F, Gaskell PC, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Allen FA Jr, Goetz CG, Mastaglia F, Stajich JM, Gibson RA, Middleton LT, Saunders AM, Scott BL, Small GW, Nicodemus KK, Reed AD, Schmechel DE, Welsh-Bohmer KA, Conneally PM, Roses AD, Gilbert JR, Vance JM, Haines JL, Pericak-Vance MA. Li YJ, et al. Among authors: middleton lt. Am J Hum Genet. 2002 Apr;70(4):985-93. doi: 10.1086/339815. Epub 2002 Mar 1. Am J Hum Genet. 2002. PMID: 11875758 Free PMC article.
A novel GBA2 gene missense mutation in spastic ataxia.
Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K. Votsi C, et al. Among authors: middleton lt. Ann Hum Genet. 2014 Jan;78(1):13-22. doi: 10.1111/ahg.12045. Epub 2013 Nov 20. Ann Hum Genet. 2014. PMID: 24252062
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.
van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Mastaglia F, Stajich JM, McLaurin AC, Middleton LT, Scott BL, Schmechel DE, Pericak-Vance MA, Vance JM. van der Walt JM, et al. Among authors: middleton lt. Am J Hum Genet. 2003 Apr;72(4):804-11. doi: 10.1086/373937. Epub 2003 Feb 28. Am J Hum Genet. 2003. PMID: 12618962 Free PMC article.
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.
Hauser ER, Crossman DC, Granger CB, Haines JL, Jones CJ, Mooser V, McAdam B, Winkelmann BR, Wiseman AH, Muhlestein JB, Bartel AG, Dennis CA, Dowdy E, Estabrooks S, Eggleston K, Francis S, Roche K, Clevenger PW, Huang L, Pedersen B, Shah S, Schmidt S, Haynes C, West S, Asper D, Booze M, Sharma S, Sundseth S, Middleton L, Roses AD, Hauser MA, Vance JM, Pericak-Vance MA, Kraus WE. Hauser ER, et al. Am J Hum Genet. 2004 Sep;75(3):436-47. doi: 10.1086/423900. Epub 2004 Jul 22. Am J Hum Genet. 2004. PMID: 15272420 Free PMC article.
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.
Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Ondo WG, Allen FH Jr, Scott BL, Goetz CG, Small GW, Mastaglia F, Stajich JM, Zhang F, Booze MW, Winn MP, Middleton LT, Haines JL, Pericak-Vance MA, Vance JM. Oliveira SA, et al. Among authors: middleton lt. Ann Neurol. 2003 May;53(5):624-9. doi: 10.1002/ana.10524. Ann Neurol. 2003. PMID: 12730996
160 results