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Results: 1 to 20 of 73

1.

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.

Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME.

Neurogenetics. 2013 Nov;14(3-4):173-9. doi: 10.1007/s10048-013-0364-y. Epub 2013 May 4.

PMID:
23644918
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Evaluating mitochondrial DNA variation in autism spectrum disorders.

Hadjixenofontos A, Schmidt MA, Whitehead PL, Konidari I, Hedges DJ, Wright HH, Abramson RK, Menon R, Williams SM, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA, Martin ER, McCauley JL.

Ann Hum Genet. 2013 Jan;77(1):9-21. doi: 10.1111/j.1469-1809.2012.00736.x. Epub 2012 Nov 6.

PMID:
23130936
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, Ramsook SS, Rantus JA, Abrams AJ, Whitehead PL, Wright HH, Abramson RK, Haines JL, Cuccaro ML, Pericak-Vance MA, Gilbert JR.

Autism Res. 2012 Dec;5(6):385-97. doi: 10.1002/aur.1251. Epub 2012 Oct 10.

PMID:
23055267
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.

Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Landwehrmeyer GB; Registry Study of the European Huntington's Disease Network, Shoulson I; Huntington Study Group COHORT project, Myers RH, MacDonald ME, Gusella JF.

Biochem Biophys Res Commun. 2012 Aug 3;424(3):404-8. Epub 2012 Jul 3.

PMID:
22771793
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.

Griswold AJ, Ma D, Cukier HN, Nations LD, Schmidt MA, Chung RH, Jaworski JM, Salyakina D, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Martin ER, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA.

Hum Mol Genet. 2012 Aug 1;21(15):3513-23. doi: 10.1093/hmg/dds164. Epub 2012 Apr 27.

PMID:
22543975
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF.

Am J Hum Genet. 2012 Mar 9;90(3):434-44. doi: 10.1016/j.ajhg.2012.01.005. Epub 2012 Mar 1.

PMID:
22387017
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG), Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network, Myers RH; HD-MAPS Study Group, MacDonald ME, Gusella JF; COHORT study of the HSG.

Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8.

PMID:
22323755
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Serum carnitine levels and levocarnitine supplementation in institutionalized Huntington's disease patients.

Cuturic M, Abramson RK, Moran RR, Hardin JW, Frank EM, Sellers AA.

Neurol Sci. 2013 Jan;34(1):93-8.

PMID:
22294053
[PubMed - indexed for MEDLINE]
9.

Exploring the relationship between autism spectrum disorder and epilepsy using latent class cluster analysis.

Cuccaro ML, Tuchman RF, Hamilton KL, Wright HH, Abramson RK, Haines JL, Gilbert JR, Pericak-Vance M.

J Autism Dev Disord. 2012 Aug;42(8):1630-41. doi: 10.1007/s10803-011-1402-y.

PMID:
22105141
[PubMed - indexed for MEDLINE]
10.

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.

Chung RH, Ma D, Wang K, Hedges DJ, Jaworski JM, Gilbert JR, Cuccaro ML, Wright HH, Abramson RK, Konidari I, Whitehead PL, Schellenberg GD, Hakonarson H, Haines JL, Pericak-Vance MA, Martin ER.

Mol Autism. 2011 Nov 4;2(1):18. doi: 10.1186/2040-2392-2-18.

PMID:
22050706
[PubMed]
Free PMC Article
11.

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.

Salyakina D, Cukier HN, Lee JM, Sacharow S, Nations LD, Ma D, Jaworski JM, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA.

PLoS One. 2011;6(10):e26049. doi: 10.1371/journal.pone.0026049. Epub 2011 Oct 7.

PMID:
22016809
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.

Cukier HN, Salyakina D, Blankstein SF, Robinson JL, Sacharow S, Ma D, Wright HH, Abramson RK, Menon R, Williams SM, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA.

Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):493-501. doi: 10.1002/ajmg.b.31188. Epub 2011 Apr 7.

PMID:
21480499
[PubMed - indexed for MEDLINE]
13.

A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.

Griswold AJ, Ma D, Sacharow SJ, Robinson JL, Jaworski JM, Wright HH, Abramson RK, Lybaek H, Øyen N, Cuccaro ML, Gilbert JR, Pericak-Vance MA.

Autism Res. 2011 Jun;4(3):221-7. doi: 10.1002/aur.186. Epub 2011 Feb 28.

PMID:
21360829
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Carnitine and metabolic correlates in hospitalized psychiatric patients: a follow-through report.

Cuturic M, Abramson RK, Moran RR, Hardin JW.

J Psychiatr Pract. 2011 Jan;17(1):35-40. doi: 10.1097/01.pra.0000393842.63841.bc.

PMID:
21266892
[PubMed - indexed for MEDLINE]
15.

Variants in several genomic regions associated with asperger disorder.

Salyakina D, Ma DQ, Jaworski JM, Konidari I, Whitehead PL, Henson R, Martinez D, Robinson JL, Sacharow S, Wright HH, Abramson RK, Gilbert JR, Cuccaro ML, Pericak-Vance MA.

Autism Res. 2010 Dec;3(6):303-10. doi: 10.1002/aur.158.

PMID:
21182207
[PubMed - indexed for MEDLINE]
16.

Clinical correlates of low serum carnitine levels in hospitalized psychiatric patients.

Cuturic M, Abramson RK, Moran RR, Hardin JW, Hall AV.

World J Biol Psychiatry. 2011 Feb;12(1):73-9. doi: 10.3109/15622975.2010.489619. Epub 2010 Jun 29.

PMID:
20586533
[PubMed - indexed for MEDLINE]
17.

Clinical outcomes and low-dose levocarnitine supplementation in psychiatric inpatients with documented hypocarnitinemia: a retrospective chart review.

Cuturic M, Abramson RK, Moran RR, Hardin JW.

J Psychiatr Pract. 2010 Jan;16(1):5-14. doi: 10.1097/01.pra.0000367773.03636.d1.

PMID:
20098226
[PubMed - indexed for MEDLINE]
18.

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.

Cukier HN, Rabionet R, Konidari I, Rayner-Evans MY, Baltos ML, Wright HH, Abramson RK, Martin ER, Cuccaro ML, Pericak-Vance MA, Gilbert JR.

Neurogenetics. 2010 Jul;11(3):291-303. doi: 10.1007/s10048-009-0228-7. Epub 2009 Nov 18.

PMID:
19921286
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.

Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA, Lintas C, Abramson RK, Wright HH, Ellis P, Langford CF, Worley G, Delong GR, Murphy SK, Cuccaro ML, Persico A, Pericak-Vance MA.

BMC Med. 2009 Oct 22;7:62. doi: 10.1186/1741-7015-7-62.

PMID:
19845972
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Sleep patterns in patients with Huntington's disease and their unaffected first-degree relatives: a brief report.

Cuturic M, Abramson RK, Vallini D, Frank EM, Shamsnia M.

Behav Sleep Med. 2009;7(4):245-54. doi: 10.1080/15402000903190215.

PMID:
19787493
[PubMed - indexed for MEDLINE]

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