HD HTT

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

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

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

Huntington's disease: a clinical review.

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

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

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

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

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

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

Accurate Quantification of Mutant and Wild-Type polyQ Proteins Using Simple Western Capillary Immunoassays.

Bas,Röttgering, Janwillem,Testerink, Rudie,Weij, Chantal,Beekman, Nicole,Datson

Preserved Thermoregulation in Huntington's Disease: Insights from an Observational Case-Control Study.

Lucía,Simón-Vicente, Jéssica,Rivadeneyra-Posadas, María,Soto-Célix, Javier,Raya-González, Alejandro,Rodríguez-Fernández, Daniel,Castillo-Alvira, Fernando,Vázquez, Esther,Cubo

A Strategy Potentially Suitable for Combined Preimplantation Genetic Testing of Aneuploidy and Monogenic Disease That Permits Direct Detection of Pathogenic Variants Including Repeat Expansions and Gene Deletions.

Vivienne J,Tan, Ying,Liang, Arnold S,Tan, Simin,Wong, Nur,Asherah, Pengyian,Chua, Caroline G,Lee, Mahesh A,Choolani, Truong,Dang, Samuel S,Chong

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.

Thomas P,Spargo, Alfredo,Iacoangeli, Mina,Ryten, Francesca,Forzano, Neil,Pearce, Ammar,Al-Chalabi

Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice.

Zaneta,Matuszek, Mandana,Arbab, Maheswaran,Kesavan, Alvin,Hsu, Jennie C L,Roy, Jing,Zhao, Tian,Yu, Ben,Weisburd, Gregory A,Newby, Neil J,Doherty, Muzhou,Wu, Shota,Shibata, Ana,Cristian, Y Allen,Tao, Liam G,Fearnley, Melanie,Bahlo, Heidi L,Rehm, Jun,Xie, Guangping,Gao, Ricardo,Mouro Pinto, David R,Liu

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.

Sarah,Fazal, Harriet,Dashnow, Maike F,Dohrn, Jacquelyn,Raposo, Laurel,Hiatt, Matt C,Danzi, Isaac R L,Xu, Camilo,Toro, David R,Adams, Karen,Usdin, Bruce,Hayward, Shilpa Nadimpalli,Kobren, Shamil R,Sunyaev, Rebecca C,Spillmann, Vandana,Shashi, Adriana,Rebelo, Guney,Bademci, Mustafa,Tekin, Aaron R,Quinlan, Stephan,Züchner

Genetic variants of SLC6A4 and risk of coronary artery disease: insights from North Indian population.

Jyotdeep Kour,Raina, Minakashee,Sharma, Ravi,Sharma, Rohit,Bhardwaj, Parvinder,Kumar, Santasree,Banerjee, Rakesh Kumar,Panjaliya

Interventionally targeting somatic CAG expansions can be a rapid disease-modifying therapeutic avenue: Preclinical evidence.

Terence,Gall-Duncan, Sangyoon Y,Ko, Isabelle K,Quick, Mahreen,Khan, Kristie,Feng, Chase P,Kelley, Annabelle,Coleman, Alexiane,Touze, Shuqian,Tang, Mustafa,Mehkary, Katsuyuki,Yokoi, Casey R,Herrington, Justin,You, Scott C,Lambie, Tanya K,Prasolava, Gagan B,Panigrahi, Jeehye,Park, Kazuhiko,Nakatani, Lauren M,Byrne, Peixiang,Wang, John S,Schneekloth, Masayuki,Nakamori, Paul W,Frankland, Eric T,Wang, Christopher E,Pearson

Huntingtin inclusion bodies have distinct immunophenotypes and ubiquitination profiles in the Huntington's disease human cerebral cortex.

Molly E V,Swanson, Adelie Y S,Tan, Lynette J,Tippett, Clinton P,Turner, Maurice A,Curtis, Emma L,Scotter, Hilal A,Lashuel, Mike,Dragunow, Richard L M,Faull, Helen C,Murray, Malvindar K,Singh-Bains