SCA3 ATXN3

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.

Marilena,Lauerer, Jennifer,Faber, Nicolas,Casadei, Magda M,Santana, Georg,Auburger, Michaela,Pogoda, Jakob,Admard, Lea,Kaupp, Patricia Laura,Kos, Mafalda,Raposo, Manuela,Lima, Luis Pereira,de Almeida, Hector,Garcia-Moreno, Paola,Giunti, Jeroen,de Vries, Bart P,van de Warrenburg, Judith,van Gaalen, Marcus,Grobe-Einsler, Berkan,Koyak, Kathrin,Reetz, Friedrich,Erdlenbruch, Heike,Jacobi, Jon,Infante, Holger,Hengel, Ludger,Schöls, Thomas,Klockgether, Olaf,Rieß, Jeannette,Hübener-Schmid

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

Jenish,Bhandari, Pawan K.,Thada, Debopam,Samanta

Henry,Paulson, Vikram,Shakkottai

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Clarissa,Rocca, David,Murphy, Chris,Clarkson, Matteo,Zanovello, Delia,Gagliardi, Queen Square,Genomics, Rauan,Kaiyrzhanov, Javeria,Alvi, Reza,Maroofian, Stephanie,Efthymiou, Tipu,Sultan, Jana,Vandrovcova, James,Polke, Robyn,Labrum, Henry,Houlden, Arianna,Tucci

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations.

A,Ramos, M,Planchat, A R,Vieira Melo, M,Raposo, U,Shamim, V,Suroliya, A K,Srivastava, M,Faruq, H,Morino, R,Ohsawa, H,Kawakami, L,Bannach Jardim, M L,Saraiva-Pereira, J,Vasconcelos, C,Santos, M,Lima

The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.

Elena,Capacci, Silvia,Bagnoli, Giulia,Giacomucci, Costanza Maria,Rapillo, Alessandra,Govoni, Valentina,Bessi, Cristina,Polito, Irene,Giotti, Alice,Brogi, Elisabetta,Pelo, Sandro,Sorbi, Benedetta,Nacmias, Camilla,Ferrari

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

Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3.

Xuanyu,Chen, Kunxin,Lin, Zhixian,Ye, Liangliang,Qiu, Yusen,Qiu, Ruying,Yuan, Xintong,Yu, Chunyu,Huang, Bi,Cheng, Wei,Lin, Tianmin,Lai, Wanjin,Chen, Ning,Wang, Shirui,Gan, Qiuni,Su, Ying,Fu

Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China.

Lijing,Lei, Linliu,Peng, Linlin,Wan, Zhao,Chen, Chunrong,Wang, Huirong,Peng, Rong,Qiu, Beisha,Tang, Hong,Jiang

Clinical and neuroimaging review of triplet repeat diseases.

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

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Y,Kawaguchi, T,Okamoto, M,Taniwaki, M,Aizawa, M,Inoue, S,Katayama, H,Kawakami, S,Nakamura, M,Nishimura, I,Akiguchi

The genetic landscape of spinocerebellar ataxias in Taiwan: Insights from 876 genetically confirmed cases.

Shih-Chun,Lan, Cheng-Tsung,Hsiao, Kang-Yang,Jih, Yi-Chu,Liao, Yi-Chung,Lee

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Fulya,Akçimen, Kimberly,Paquette, Peter,Wild Crea, Kathryn,Step, Emily,Waldo, Mathew J,Koretsky, Paula,Saffie-Awad, Charles,Achoru, Funmilola,Taiwo, Simon,Ozomma, Gerald,Onwuegbuzie, Marzieh,Khani, Spencer,Grant, Lukman,Owolabi, Chiamaka,Okereke, Olajumoke,Oshinaike, Emmanuel,Iwuozo, Suleyman,Can Akerman, Paul Suhwan,Lee, Shyngle,Oyakhire, Nosakhare,Osemwegie, Kensuke,Daida, Sani,Abubakar, Adedunni,Olusanya, Mariam,Isayan, Christiane,Alvarez, Rami,Traurig, Adebimpe,Ogunmodede, Sarah,Samuel, Mary B,Makarious, Fadimatu,Sa'ad, Rashidat,Olanigan, Kristin,Levine, Ewere Marie,Ogbimi, Dan,Vitale, Francis,Odiase, Francis,Ojini, Olanike,Odeniyi, Zih-Hua,Fang, Nkechi,Obianozie, Deborah A,Hall, Ernest,Nwazor, Tao,Xie, Francesca,Nwaokorie, Mahesh,Padmanaban, Paul,Nwani, Ejaz A,Shamim, Alero,Nnama, David,Standaert, Morenikeji,Komolafe, Marissa,Dean, Godwin,Osaigbovo, Elizabeth,Disbrow, Ismaila,Ishola, Ashley,Rawls, Frank,Imarhiagbe, Shivika,Chandra, Cyril,Erameh, Vanessa,Hinson, Naomi,Louie, Ahmed,Idowu, J,Solle, Scott A,Norris, Abdullahi,Ibrahim, Camilla,Kilbane, Gauthaman,Sukumar, Lisa M,Shulman, Daniel,Ezuduemoih, Julia,Staisch, Sarah,Breaux, Clifton,Dalgard, Erin R,Foster, Abiodun,Bello, Andrew,Ameri, Raquel,Real, Erica,Ikwenu, Huw R,Morris, Roosevelt,Anyanwu, Erin,Furr Stimming, Kimberley,Billingsley, Wemimo,Alaofin, Pilar,Alvarez Jerez, Osigwe,Agabi, Dena G,Hernandez, Rufus,Akinyemi, Sampath,Arepalli, Laksh,Malik, Raymond,Owolabi, Yakub,Nyandaiti, Hampton L,Leonard, Kolawole,Wahab, Oladunni,Abiodun, Carlos F,Hernandez, Fatima,Abdulai, Hirotaka,Iwaki, Soraya,Bardien, Christine,Klein, John,Hardy, Henry,Houlden, Kamalini Ghosh,Galvelis, Mike A,Nalls, Nabila,Dahodwala, Whitley,Aamodt, Emily,Hill, Alberto,Espay, Stewart,Factor, Chantale,Branson, Cornelis,Blauwendraat, Andrew B,Singleton, Oluwadamilola,Ojo, Lana M,Chahine, Njideka,Okubadejo, Sara,Bandres-Ciga

Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease:

Jose Miguel,Laffita-Mesa, Martin,Paucar, Per,Svenningsson

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.

Shanshan,Wei, Zhe,Zhao, Nan,Li, Xuan,Guo, Jiannan,Chen, Jing,Hu

Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.

Leonardo Eleuterio,Ariello, Daniel R,Gold, Weiyi,Mu, Michael C,Schubert, Claire,Allen, Ashley,Paul, David P W,Rastall

The Case of Spinocerebellar Ataxias in Amazonas (Northern Brazil): An Analysis of Disease Frequency from a Geographic, Historical, and Genetic-Evolutionary Perspective.

Diana Vieira,Brito, Marcus Vinicius,Della Coletta, Giselle Benevides Monteiro,Ferreira, Sabrina Rodrigues,da Silva, Patricia Batista de,Azevedo, Cleiton,Fantin

Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.

Chang,Liu, Xin,Wang, Chao,Xu, Xiaoxiang,Liu, Liyan,Ke, Ying,Li, Hang,Zhang, Jianqiang,Tan, Senwei,Tan, Zitong,Zhang, Liang,Cheng, Yaqiong,Ren, Lei,Shi

Yuxiang,Sun, Zhouxian,Li, Hui,Dai, Yinsheng,Wang

Familial spinocerebellar ataxia type 3: A case report of multi-generational presentation.

Ji,Wang, Zheng,Liu, Chao,Shi, Chunhua,Pan, Junting,Chen, Ziyi,Zhao, Dan,Yang, Hao,Huang