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Ontology Lookup Service (OLS)

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.

Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti

American journal of human genetics · 2017-11-02

Huntington Disease

Nicholas S.,Caron, Galen EB,Wright, Michael R.,Hayden

GeneReviews® · 1993-01-01

Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases.

Zöe,Powis, Jonathon,Lutz, Khalida,Liaquat, Jyes A,Querubin, Sat Dev,Batish

American journal of medical genetics. Part A · 2024-10-23

Huntington's disease: a clinical review.

Raymund A C,Roos

Orphanet journal of rare diseases · 2010-12-20

Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure.

Magdalena,Vater, Nicolas,Rost, Gertrud,Eckstein, Susann,Sauer, Alina,Tontsch, Angelika,Erhardt, Susanne,Lucae, Tanja,Brückl, Thomas,Klopstock, Philipp G,Sämann, Elisabeth B,Binder

European journal of human genetics : EJHG · 2024-11-21

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, James M,Ferguson, Sandy S,Pineda, Carolin K,Scriba, Michel,Tchan, Victor,Fung, Karl,Ng, Andrea,Cortese, Henry,Houlden, Carol,Dobson-Stone, Lauren,Fitzpatrick, Glenda,Halliday, Gianina,Ravenscroft, Mark R,Davis, Nigel G,Laing, Avi,Fellner, Marina,Kennerson, Kishore R,Kumar, Ira W,Deveson

Science advances · 2022-03-04

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

Audrey E,Hendricks, Jeanne C,Latourelle, Kathryn L,Lunetta, L Adrienne,Cupples, Vanessa,Wheeler, Marcy E,MacDonald, James F,Gusella, Richard H,Myers

American journal of medical genetics. Part A · 2009-07-01

Huntington's Disease: Mechanisms of Pathogenesis and Therapeutic Strategies.

Maria,Jimenez-Sanchez, Floriana,Licitra, Benjamin R,Underwood, David C,Rubinsztein

Cold Spring Harbor perspectives in medicine · 2017-07-05

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Cell · 1993-03-26

Comparisons of neurodegenerative disease biomarkers across different biological fluids from patients with Huntington's disease.

Alison R,Bamford, Georgia M,Parkin, Jody,Corey-Bloom, Elizabeth A,Thomas

Journal of neurology · 2025-01-23

Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.

Rachael I,Scahill, Mena,Farag, Michael J,Murphy, Nicola Z,Hobbs, Michela,Leocadi, Christelle,Langley, Harry,Knights, Marc,Ciosi, Kate,Fayer, Mitsuko,Nakajima, Olivia,Thackeray, Johan,Gobom, John,Rönnholm, Sophia,Weiner, Yara R,Hassan, Nehaa K P,Ponraj, Carlos,Estevez-Fraga, Christopher S,Parker, Ian B,Malone, Harpreet,Hyare, Jeffrey D,Long, Amanda,Heslegrave, Cristina,Sampaio, Hui,Zhang, Trevor W,Robbins, Henrik,Zetterberg, Edward J,Wild, Geraint,Rees, James B,Rowe, Barbara J,Sahakian, Darren G,Monckton, Douglas R,Langbehn, Sarah J,Tabrizi

Nature medicine · 2025-01-17

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease.

Robert E,Handsaker, Seva,Kashin, Nora M,Reed, Steven,Tan, Won-Seok,Lee, Tara M,McDonald, Kiely,Morris, Nolan,Kamitaki, Christopher D,Mullally, Neda R,Morakabati, Melissa,Goldman, Gabriel,Lind, Rhea,Kohli, Elisabeth,Lawton, Marina,Hogan, Kiku,Ichihara, Sabina,Berretta, Steven A,McCarroll

Cell · 2025-01-16

Total functioning capacity scale in Huntington's disease: natural course over time.

K F,van der Zwaan, S,Feleus, O M,Dekkers, R A C,Roos, S T,de Bot

Journal of neurology · 2025-01-15

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

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

Brain communications · 2025-01-11

Improving the Robustness of Deep-Learning Models in Predicting Hematoma Expansion from Admission Head CT.

Anh T,Tran, Gaby Abou,Karam, Dorin,Zeevi, Adnan I,Qureshi, Ajay,Malhotra, Shahram,Majidi, Santosh B,Murthy, Soojin,Park, Despina,Kontos, Guido J,Falcone, Kevin N,Sheth, Seyedmehdi,Payabvash

AJNR. American journal of neuroradiology · 2025-01-10

APOBEC3A deaminates CTG hairpin loops to promote fragility and instability of expanded CAG/CTG repeats.

Rebecca E,Brown, Margo,Coxon, Benjamin,Larsen, Maxwell,Allison, Ariana,Chadha, Isabelle,Mittelstadt, Tony M,Mertz, Steven A,Roberts, Catherine H,Freudenreich

Proceedings of the National Academy of Sciences of the United States of America · 2025-01-07

Evaluation of an Antisense Oligonucleotide Targeting CAG Repeats: A Patient-Customized Therapy Study for Huntington's Disease.

Sergio Adrian,Ocampo-Ortega, Vivany Maydel,Sierra-Sanchez, Citlali Margarita,Blancas-Napoles, Asdrúbal,González-Carteño, Elvia,Mera-Jiménez, Martha Edith,Macías-Pérez, Adriana,Hernandez-Guerra, Rodrigo,Romero-Nava, Fengyang,Huang, Enrique,Hong, Santiago,Villafaña

Life (Basel, Switzerland) · 2024-12-04