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Kousseff syndrome caused by deletion of chromosome 22q11-13.
Forrester S, Kovach MJ, Smith RE, Rimer L, Wesson M, Kimonis VE. Forrester S, et al. Among authors: wesson m. Am J Med Genet. 2002 Nov 1;112(4):338-42. doi: 10.1002/ajmg.10625. Am J Med Genet. 2002. PMID: 12376934
In their own words: reports of stigma and genetic discrimination by people at risk for Huntington disease in the International RESPOND-HD study.
Williams JK, Erwin C, Juhl AR, Mengeling M, Bombard Y, Hayden MR, Quaid K, Shoulson I, Taylor S, Paulsen JS; I-RESPOND-HD Investigators of the Huntington Study Group. Williams JK, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1150-9. doi: 10.1002/ajmg.b.31080. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468062 Free PMC article.
Motor onset and diagnosis in Huntington disease using the diagnostic confidence level.
Liu D, Long JD, Zhang Y, Raymond LA, Marder K, Rosser A, McCusker EA, Mills JA, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Liu D, et al. J Neurol. 2015 Dec;262(12):2691-8. doi: 10.1007/s00415-015-7900-7. Epub 2015 Sep 26. J Neurol. 2015. PMID: 26410751 Free PMC article.
Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.
Huntington Study Group PHAROS Investigators; Biglan KM, Shoulson I, Kieburtz K, Oakes D, Kayson E, Shinaman MA, Zhao H, Romer M, Young A, Hersch S, Penney J, Marder K, Paulsen J, Quaid K, Siemers E, Tanner C, Mallonee W, Suter G, Dubinsky R, Gray C, Nance M, Bundlie S, Radtke D, Kostyk S, Baic C, Caress J, Walker F, Hunt V, O'Neill C, Chouinard S, Factor S, Greenamyre T, Wood-Siverio C, Corey-Bloom J, Song D, Peavy G, Moskowitz C, Wesson M, Samii A, Bird T, Lipe H, Blindauer K, Marshall F, Zimmerman C, Goldstein J, Rosas D, Novak P, Caviness J, Adler C, Duffy A, Wheelock V, Tempkin T, Richman D, Seeberger L, Albin R, Chou KL, Racette B, Perlmutter JS, Perlman S, Bordelon Y, Martin W, Wieler M, Leavitt B, Raymond L, Decolongon J, Clarke L, Jankovic J, Hunter C, Hauser RA, Sanchez-Ramos J, Furtado S, Suchowersky O, Klimek ML, Guttman M, Sethna R, Feigin A, Cox M, Shannon B, Percy A, Dure L, Harrison M, Johnson W, Higgins D, Molho E, Nickerson C, Evans S, Hobson D, Singer C, Galvez-Jimenez N, Shannon K, Comella C, Ross C, Saint-Hilaire MH, Testa C, Rosenblatt A, Hogarth P, Weiner W, Como P, Kumar R, Cotto C, Stout J, Brocht A, Watts A, Eberly S, Weaver C, Foroud T, Gusella J, … See abstract for full author list ➔ Huntington Study Group PHAROS Investigators, et al. Among authors: wesson m. JAMA Neurol. 2016 Jan;73(1):102-10. doi: 10.1001/jamaneurol.2015.2736. JAMA Neurol. 2016. PMID: 26569098
Perception, experience, and response to genetic discrimination in Huntington disease: the international RESPOND-HD study.
Erwin C, Williams JK, Juhl AR, Mengeling M, Mills JA, Bombard Y, Hayden MR, Quaid K, Shoulson I, Taylor S, Paulsen JS; I-RESPOND-HD Investigators of the Huntington Study Group. Erwin C, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):1081-93. doi: 10.1002/ajmg.b.31079. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468061 Free PMC article.
Mild cognitive impairment in prediagnosed Huntington disease.
Duff K, Paulsen J, Mills J, Beglinger LJ, Moser DJ, Smith MM, Langbehn D, Stout J, Queller S, Harrington DL; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Duff K, et al. Neurology. 2010 Aug 10;75(6):500-7. doi: 10.1212/WNL.0b013e3181eccfa2. Epub 2010 Jul 7. Neurology. 2010. PMID: 20610833 Free PMC article.
Cerebral cortex structure in prodromal Huntington disease.
Nopoulos PC, Aylward EH, Ross CA, Johnson HJ, Magnotta VA, Juhl AR, Pierson RK, Mills J, Langbehn DR, Paulsen JS; PREDICT-HD Investigators Coordinators of Huntington Study Group (HSG). Nopoulos PC, et al. Neurobiol Dis. 2010 Dec;40(3):544-54. doi: 10.1016/j.nbd.2010.07.014. Epub 2010 Aug 2. Neurobiol Dis. 2010. PMID: 20688164 Free PMC article.
129 results