Works matching Huntington's disease and genetics

Results: 613

C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing.

Published in:

Neurodegenerative Diseases, 2018, v. 18, n. 5/6, p. 239, doi. 10.1159/000492499

By:

Ida, Cristiane M.;
Butz, Malinda L.;
Lundquist, Patrick A.;
Dawson, D. Brian

Publication type:

Article

Exploring the Genetic and Molecular Connection between Autism and Huntington's Disease via Transcriptomics and Biological Interaction Networks Analysis.

Published in:

Journal of Computational Biophysics & Chemistry, 2025, v. 24, n. 2, p. 215, doi. 10.1142/S2737416524500583

By:

Naveed, Muhammad;
Cheema, Sana Rehman;
Aziz, Tariq;
Makhdoom, Syeda Izma;
Saleem, Urooj;
Jamil, Hamza;
Alhomrani, Majid;
Alsanie, Walaa F.;
Alamri, Abdulhakeem S.

Publication type:

Article

Adoption and the communication of genetic risk: experiences in Huntington disease.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 64, doi. 10.1111/j.1399-0004.2010.01614.x

By:

Bombard, Y;
Semaka, A;
Hayden, MR

Publication type:

Article

Genetics of Huntington's disease and special considerations for pre-symptomatic genetic testing.

Published in:

Primary Health Care, 2021, v. 31, n. 5, p. 30, doi. 10.7748/phc.2021.e1721

By:

Cooper, Christa

Publication type:

Article

Características clínicas y genético-moleculares de la enfermedad de Huntington en pacientes costarricenses: experiencia de 14 años de diagnóstico molecular.

Published in:

Revista Mexicana de Neurociencia, 2018, v. 19, n. 5, p. 9, doi. 10.24875/RMN.M18000003

By:

Vásquez-Cerdas, Melissa;
Morales-Montero, Fernando;
Cuenca-Berger, Patricia

Publication type:

Article

Non-disclosing preimplantation genetic diagnosis for Huntington disease.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 6, p. 503, doi. 10.1002/pd.359

By:

Stern, Harvey J.;
Harton, Gary L.;
Sisson, Michael E.;
Jones, Shirley L.;
Fallon, Lee A.;
Thorsell, Lilli P.;
Getlinger, Michael E.;
Black, Susan H.;
Schulman, Joseph D.;
Harper, Joyce

Publication type:

Article

Clinical and genetic features of Huntington disease in Sri Lanka.

Published in:

BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-191

By:

Sumathipala, Dulika S.;
Jayasekara, Rohan W.;
Dissanayake, Vajira H. W.

Publication type:

Article

Clinical and genetic features of Huntington disease in Sri Lanka.

Published in:

2013

By:

Sumathipala, Dulika S;
Jayasekara, Rohan W;
Dissanayake, Vajira H W

Publication type:

journal article

Genomic characterization of Huntington's disease genetic modifiers informs drug target tractability.

Published in:

Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcae418

By:

Namuli, Kevin Lucy;
Slike, Alana N;
Hollebeke, Mason A;
Wright, Galen E B

Publication type:

Article

Suicide in frontotemporal dementia and Huntington disease: analysis of family-reported pedigree data and implications for genetic healthcare for asymptomatic relatives.

Published in:

Psychology & Health, 2021, v. 36, n. 11, p. 1397, doi. 10.1080/08870446.2020.1849700

By:

Sexton, Adrienne;
West, Kirsty;
Gill, Gulvir;
Wiseman, Allan;
Taylor, Jessica;
Purvis, Rebecca;
Fahey, Michael;
Storey, Elsdon;
Walsh, Maie;
James, Paul

Publication type:

Article

Brain hypometabolism in rare genetic neurodegenerative disease: Niemann-Pick disease type C, spinocerebellar ataxia and Huntington disease assessed by FDG PET.

Published in:

Asia Oceania Journal of Nuclear Medicine & Biology, 2021, v. 9, n. 2, p. 167, doi. 10.22038/AOJNMB.2020.52511.1362

By:

Yung Hsiang Kao;
Cheng, Melissa;
Velakoulis, Dennis;
Walterfang2-, Mark;
Sivaratnam, Dinesh

Publication type:

Article

Ethical Considerations in Clinical Trials for Rare Genetic Diseases: The Case of Huntington's Disease.

Published in:

American Journal of Bioethics, 2023, v. 23, n. 7, p. 94, doi. 10.1080/15265161.2023.2207511

By:

Mendizabal, Adys;
Jones, Nora L.

Publication type:

Article

Therapeutic Strategies in Huntington's Disease: From Genetic Defect to Gene Therapy.

Published in:

Biomedicines, 2022, v. 10, n. 8, p. N.PAG, doi. 10.3390/biomedicines10081895

By:

Jurcau, Anamaria;
Jurcau, Maria Carolina

Publication type:

Article

Synaptic Dysfunction in Huntington's Disease: Lessons from Genetic Animal Models.

Published in:

Neuroscientist, 2022, v. 28, n. 1, p. 20, doi. 10.1177/1073858420972662

By:

Cepeda, Carlos;
Levine, Michael S.

Publication type:

Article

The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 28, doi. 10.1111/cge.13529

By:

Anderson, Karen E.;
Eberly, Shirley;
Marder, Karen S.;
Oakes, David;
Kayson, Elise;
Young, Anne;
Shoulson, Ira

Publication type:

Article

The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008).

Published in:

Clinical Genetics, 2014, v. 85, n. 1, p. 87, doi. 10.1111/cge.12089

By:

van Rij, MC;
de Koning Gans, PAM;
van Belzen, MJ;
Roos, RAC;
Geraedts, JPM;
De Rademaeker, M;
Bijlsma, EK;
de Die‐Smulders, CEM

Publication type:

Article

Doing the right thing for one's children: deciding whether to take the genetic test for Huntington's disease as a moral dilemma.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 417, doi. 10.1111/cge.12124

By:

Smith, JA;
Stephenson, M;
Jacobs, C;
Quarrell, O

Publication type:

Article

Recommendations for the predictive genetic test in Huntington's disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 221, doi. 10.1111/j.1399-0004.2012.01900.x

By:

MacLeod, R;
Tibben, A;
Frontali, M;
Evers‐Kiebooms, G;
Jones, A;
Martinez‐Descales, A;
Roos, RA

Publication type:

Article

Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.

Published in:

Clinical Genetics, 2013, v. 83, n. 2, p. 118, doi. 10.1111/cge.12058

By:

van Rij, MC;
de Die‐Smulders, CEM;
Bijlsma, EK;
de Wert, GMWR;
Geraedts, JP;
Roos, RAC;
Tibben, A

Publication type:

Article

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.122

By:

Van Rij, Maartje C;
De Rademaeker, Marjan;
Moutou, Céline;
Dreesen, Jos C F M;
De Rycke, Martine;
Liebaers, Inge;
Geraedts, Joep P M;
De Die-Smulders, Christine E M;
Viville, Stéphane

Publication type:

Article

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 4, p. 368, doi. 10.1038/ejhg.2011.202

By:

Van Rij, Maartje C;
De Rademaeker, Marjan;
Moutou, Céline;
Dreesen, Jos CFM;
De Rycke, Martine;
Liebaers, Inge;
Geraedts, Joep PM;
De Die-Smulders, Christine EM;
Viville, Stéphane

Publication type:

Article

Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 279, doi. 10.1038/sj.ejhg.5201937

By:

Bombard, Yvonne;
Penziner, Elizabeth;
Suchowersky, Oksana;
Guttman, Mark;
Paulsen, Jane S.;
Bottorff, Joan L.;
Hayden, Michael R.

Publication type:

Article

Huntington's disease, third edition: Oxford monographs on medical genetics.

Published in:

2004

By:

Kohan, Zully Gelman

Publication type:

Book Review

Preimplantation genetic diagnosis for Huntington's disease with exclusion testing.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 10, p. 591, doi. 10.1038/sj.ejhg.5200865

By:

Sermon, Karen;
De Rijke, Martine;
Lissens, Willy;
De Vos, Anick;
Platteau, Peter;
Bonduelle, Maryse;
Devroey, Paul;
Van Steirteghem, Andre;
Liebaers, Inge

Publication type:

Article

Morbus Huntington – a human genetic model disease.

Published in:

Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 90, doi. 10.1159/000056825

By:

Epplen, J. T.;
Gencik, M.;
Epplen, A.;
Andrich, J.;
Saft, C.;
Przuntek, H.

Publication type:

Article

A Study of Potential Interactive Genetic Factors in Huntington’s Disease.

Published in:

European Neurology, 2006, v. 55, n. 4, p. 189, doi. 10.1159/000093867

By:

Panegyres, Peter K.;
Beilby, John;
Bulsara, Max;
Toufexis, Katina;
Wong, Cathy

Publication type:

Article

Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern Colombia.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16154, doi. 10.3390/ijms242216154

By:

Ahmad, Mostapha;
Ríos-Anillo, Margarita R.;
Acosta-López, Johan E.;
Cervantes-Henríquez, Martha L.;
Martínez-Banfi, Martha;
Pineda-Alhucema, Wilmar;
Puentes-Rozo, Pedro;
Sánchez-Barros, Cristian;
Pinzón, Andrés;
Patel, Hardip R.;
Vélez, Jorge I.;
Villarreal-Camacho, José Luis;
Pineda, David A.;
Arcos-Burgos, Mauricio;
Sánchez-Rojas, Manuel

Publication type:

Article

Genetics of disease severity in multiple sclerosis, Alzheimer's disease, and Huntington's disease: rejuvenating genome-wide association studies.

Published in:

Journal of Neurology, 2017, v. 264, n. 9, p. 2040, doi. 10.1007/s00415-017-8584-y

By:

Hrastelj, James;
Robertson, Neil

Publication type:

Article

Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 14, p. 2175, doi. 10.1093/hmg/9.14.2175

By:

Passani, Lucius A.

Publication type:

Article

Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 207

By:

Almqvist, E.;
Spence, N.;
Nichol, K.;
Andrew, S.E.;
Vesa, J.;
Peltonen, L.;
Anvret, M.;
Goto, J.;
Kanazawa, I.;
Goldberg, Y.P.;
Hayden, M.R.

Publication type:

Article

A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease.

Published in:

1990

By:

Grafton, Scott T.;
Mazziotta, John C.;
Pahl, Jorg J.;
George-Hyslop, Peter St.;
Haines, Jonathan L.;
Gusella, James;
Hoffman, John M.;
Baxter, Lewis R.;
Phelps, Michael E.;
Grafton, S T;
Mazziotta, J C;
Pahl, J J;
St George-Hyslop, P;
Haines, J L;
Gusella, J;
Hoffman, J M;
Baxter, L R;
Phelps, M E

Publication type:

journal article

Adaptation to being at-risk for Huntington's Disease and the availability of genetic testing: application of a stress and coping model.

Published in:

Psychology, Health & Medicine, 2004, v. 9, n. 3, p. 380, doi. 10.1080/13548500410001721936

By:

Pakenham, KI;
Goodwin, VA;
MacMillan, JC

Publication type:

Article

Genetic and environmental factors in the pathogenesis of Huntington's disease.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 9, doi. 10.1007/s10048-003-0169-5

By:

van Dellen, Anton;
Hannan, Anthony J.

Publication type:

Article

History of genetic disease: the molecular genetics of Huntington disease - a history.

Published in:

2005

By:

Bates, Gillian P.

Publication type:

Historical Material

The Woman Who Walked into the Sea: Huntington's and the Making of Genetic Disease.

Published in:

2010

By:

Clark, Claire D.;
Kushner, Howard I.

Publication type:

Book Review

Huntington's disease in Turkey: genetic counseling, clinical features, and outcome.

Published in:

Neurological Research, 2021, v. 43, n. 5, p. 381, doi. 10.1080/01616412.2020.1866355

By:

Karadag, Yesim Sucullu;
Cavdarli, Busranur Erozan;
Yuksel, Rabia Nazik

Publication type:

Article

HUNTINGTON'S DISEASE: GENETICS, ETHICS AND HOPE FOR THE FUTURE.

Published in:

2021

By:

Morgan, Sarah

Publication type:

Proceeding

Predictive genetic testing for Huntington's disease: Exploring participant experiences of uncertainty and ambivalence between clinic appointments.

Published in:

Journal of Genetic Counseling, 2025, v. 34, n. 1, p. 1, doi. 10.1002/jgc4.1911

By:

Ballard, L. M.;
Doheny, S.;
Dimond, R.;
Lucassen, A. M.;
Clarke, A. J.

Publication type:

Article

The Changing Age of Individuals Seeking Presymptomatic Genetic Testing for Huntington Disease.

Published in:

Journal of Genetic Counseling, 2018, v. 27, n. 5, p. 1157, doi. 10.1007/s10897-018-0233-9

By:

Holman, Melissa A.;
Quillin, John;
York, Timothy P.;
Testa, Claudia M.;
Rosen, Ami R.;
Norris, Virginia W.

Publication type:

Article

The Psychological Impact of Predictive Genetic Testing for Huntington′s Disease: A Systematic Review of the Literature.

Published in:

Journal of Genetic Counseling, 2015, v. 24, n. 1, p. 29, doi. 10.1007/s10897-014-9755-y

By:

Crozier, S;
Robertson, N;
Dale, M

Publication type:

Article

Genetic testing for Huntington's disease: A thematic analysis of online support community messages.

Published in:

Journal of Health Psychology, 2021, v. 26, n. 4, p. 580, doi. 10.1177/1359105319826340

By:

Smedley, Richard M;
Coulson, Neil S

Publication type:

Article

Predictive genetic test decisions for Huntington's disease: elucidating the test/no-test dichotomy.

Published in:

2005

By:

Taylor SD

Publication type:

Journal Article

Predictive Genetic Test Decision for Huntington's Disease: Elucidating the Test/No-test Dichotomy.

Published in:

Journal of Health Psychology, 2005, v. 10, n. 4, p. 597, doi. 10.1177/1359105305053442

By:

Taylor, Sandra D.

Publication type:

Article

Risk Perception and Decision-making Processes in Candidates for Genetic Testing for Huntington's Disease: An Interpretative Phenomenological Analysis.

Published in:

Journal of Health Psychology, 2002, v. 7, n. 2, p. 131, doi. 10.1177/1359105302007002398

By:

Smith, Jonathan A;
Michie, Susan;
Stephenson, Mike;
Quarrell, Oliver

Publication type:

Article

More than a co-incidence? Comment on: Amyotrophic lateral sclerosis is over‐represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.

Published in:

Acta Neuropathologica, 2023, v. 145, n. 2, p. 257, doi. 10.1007/s00401-022-02517-1

By:

Bakels, Hannah S.;
Feleus, Stephanie;
van Dis, Vera;
de Bot, Susanne T.

Publication type:

Article

Stigma and Genetic Risk: Perceptions of Stigma among Those at Risk for Huntington Disease (HD).

Published in:

Qualitative Research in Psychology, 2007, v. 4, n. 1/2, p. 65, doi. 10.1080/14780880701473417

By:

ETCHEGARY, HOLLY

Publication type:

Article

Clinical and counselling implications of preimplantation genetic diagnosis for Huntington's disease in the UK.

Published in:

Human Fertility, 2001, v. 4, n. 4, p. 235, doi. 10.1080/1464727012000199581

By:

Lashwood, Alison;
Flinter, Frances

Publication type:

Article

Preimplantation Genetic Diagnosis for Huntington's Disease.

Published in:: Journal of Assisted Reproduction & Genetics, 1997, v. 14, n. 8, p. 465
Publication type:: Article

Population-specific genetic modification of Huntington's disease in Venezuela.

Published in:

PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007274

By:

Chao, Michael J.;
Kim, Kyung-Hee;
Shin, Jun Wan;
Lucente, Diane;
Wheeler, Vanessa C.;
Li, Hong;
Roach, Jared C.;
Hood, Leroy;
Wexler, Nancy S.;
Jardim, Laura B.;
Holmans, Peter;
Jones, Lesley;
Orth, Michael;
Kwak, Seung;
MacDonald, Marcy E.;
Gusella, James F.;
Lee, Jong-Min

Publication type:

Article

Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1140, doi. 10.1002/mgg3.494

By:

Stuttgen, Kelsey;
Dvoskin, Rachel;
Bollinger, Juli;
McCague, Allison;
Shpritz, Barnett;
Brandt, Jason;
Mathews, Debra

Publication type:

Article