SBMA AR

Advancing Epidemiology and Genetic Approaches for the Treatment of Spinal and Bulbar Muscular Atrophy: Focus on Prevalence in the Indigenous Population of Western Canada.

Harry,Wilton-Clark, Ammar,Al-Aghbari, Jessica,Yang, Toshifumi,Yokota

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

Matteo,Zanovello, Kristina,Ibáñez, Anna-Leigh,Brown, Prasanth,Sivakumar, Alessandro,Bombaci, Liana,Santos, Joke J F A,van Vugt, Giuseppe,Narzisi, Ramita,Karra, Sonja W,Scholz, Jinhui,Ding, J Raphael,Gibbs, Adriano,Chiò, Clifton,Dalgard, Ben,Weisburd, Michael G,Hanna, Linda,Greensmith, Hemali,Phatnani, Jan H,Veldink, Bryan J,Traynor, James,Polke, Henry,Houlden, Pietro,Fratta, Arianna,Tucci

Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.

Dipti,Baskar, Preethish,Veeramani-Kumar, Kiran,Polavarapu, Saraswati,Nashi, Seena,Vengalil, Deepak,Menon, Aneesha,Thomas, Sai,Bhargava Sanka, Keerthipriya,Muddasu Suhasini, Akshata,Huddar, Gopikrishnan,Unnikrishnan, Mainak,Bardhan, Priya Treesa,Thomas, Nisha,Manjunath, Nalini,Atchayaram

Spinal and Bulbar Muscular Atrophy

Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.

A,Lund, B,Udd, V,Juvonen, P M,Andersen, K,Cederquist, M,Davis, C,Gellera, C,Kölmel, L O,Ronnevi, A D,Sperfeld, S A,Sörensen, L,Tranebjaerg, L,Van Maldergem, M,Watanabe, M,Weber, L,Yeung, M L,Savontaus

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.

A,Echaniz-Laguna, E,Rousso, M,Anheim, M,Cossée, C,Tranchant

A Case of Very Late Onset Spinobulbar Muscular Atrophy with Normal Creatine Kinase

Joseph,Conway, Yuebing,Li, Sakhi,Bhansali

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

Pietro,Fratta, Toby,Collins, Sally,Pemble, Suran,Nethisinghe, Anny,Devoy, Paola,Giunti, Mary G,Sweeney, Michael G,Hanna, Elizabeth M C,Fisher

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

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.

R F,Kooy, E,Reyniers, K,Storm, L,Vits, D,van Velzen, P E,de Ruiter, A O,Brinkmann, A,de Paepe, P J,Willems

Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.

Kai Ivar,Müller, Øivind,Nilssen, Maria,Nebuchenykh, Sissel,Løseth, Christoffer,Jonsrud, Gry,Hoem, Marijke,Van Ghelue, Kjell Arne,Arntzen

Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey.

Hatice,Karaer, Yüksel,Kaplan, Semiha,Kurt, Asli,Gundogdu, Begüm,Erdoğan, Nazli A,Başak

Tandem repeats mediating genetic plasticity in health and disease.

Clinical and neuroimaging review of triplet repeat diseases.

Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe

Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA).

Masahisa,Katsuno, Fumiaki,Tanaka, Hiroaki,Adachi, Haruhiko,Banno, Keisuke,Suzuki, Hirohisa,Watanabe, Gen,Sobue

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

A R,La Spada, E M,Wilson, D B,Lubahn, A E,Harding, K H,Fischbeck

Bulbospinal muscular atrophy: Kennedy's disease.

Michael,Sinnreich, Christopher Jon,Klein

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

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

Polyglutamine expansion induced dynamic misfolding of androgen receptor.

Laurens W H J,Heling, Vahid,Sheikhhassani, Julian,Ng, Morris,van Vliet, Alba,Jiménez-Panizo, Andrea,Alegre-Martí, Jaie,Woodard, Willeke,van Roon-Mom, Iain J,McEwan, Eva,Estébanez-Perpiñá, Alireza,Mashaghi

Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis.

Anastasia,Gromova, Byeonggu,Cha, Nhat,Nguyen, Diya,Garg, Connor,Coscolluela, Laura M,Strickland, David,Luong, Fabiana,Longo, Bryce L,Sopher, Mai K,ElMallah, Albert R,La Spada

GGN repeat length of the androgen receptor gene is associated with antral follicle count in Chinese women undergoing controlled ovarian stimulation.

Xinyan,Liu, Qi,Fan, Mingfen,Deng, Yan,Xu, Jing,Guo, Ping,Cao, Canquan,Zhou, Yanwen,Xu

Generation of an induced pluripotent stem cell line from a Kennedy Disease patient with AR mutation.

Meng,Zhang, Rui,Liu, Pengpeng,Sun, Chengsen,Zhang, Jingdong,Wang, Changjiang,Li

Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease.

Bo,Li, Yitong,Yang, Yingxin,Wang, Didi,Shan, Jianing,Li, Hongxu,Wang, Xiaohan,Sun, Yao,Tang, Yichang,Jiao, Xinbo,Ji, Zexin,Zhan, Bo,Kong, Bo,Gao, Yu,Wang, Ping,Sun, Fuchen,Liu

Enhancing Aesthetics in Bilateral DIEP Flap Breast Reconstruction: the Role of Tissue Pre-Expansion.

Robert Jonathan,Musmann, Christoph,Andree, Andreas,Wolter, Mazen,Hagouan, Beatrix,Munder, Dirk,Janku, Marc,Daniels, Kristin,Becker, Alan,Oramary, Julia,Bukowiecki, Annabelle,Bromba, Nora,Stockhausen, Katrin,Seidenstücker, Sonia,Fertsch

Androgen receptor CAG repeat polymorphism might be a possible cause of familial constitutional delay of growth and puberty.

Gözde Akın,Kağızmanlı, Reyhan Deveci,Sevim, Hayrullah,Manyas, Ahu,Paketçi, Korcan,Demir, Ece,Böber, Gönül,Çatlı, Ahmet,Anık, Ayhan,Abacı

Expanded carrier screening for inherited genetic disease using exome and genome sequencing.

N,Belnap, K,Ramsey, A,Abraham, A,Ryan, S,Rangasamy, A,Bonfitto, M,Naymik, M,Huentelman, S,Strom, D,Perry, A,Subramaniam, W W,Grody, S,Szelinger, V,Narayanan