Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions by Nan Zhang, Tetsuo Ashizawa

Get full text

Primary coenzyme Q10 deficiency due to COQ8A gene mutations by Linwei Zhang, Tetsuo Ashizawa, Dantao Peng

Get full text

The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10 by Tatsuaki Kurosaki, Tatsuaki Kurosaki, Tetsuo Ashizawa

Get full text

Spinocerebellar ataxia type 10: disproportionate cerebellar symptoms among at-risk subjects induced by small amounts of alcohol by Hélio A.G. Teive, Renato P. Munhoz, Tetsuo Ashizawa

Get full text

Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA by Chih-Chun Lin, Chih-Chun Lin, Tetsuo Ashizawa, Sheng-Han Kuo, Sheng-Han Kuo

Get full text

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. by Ivette Landrian, Karen N McFarland, Jilin Liu, Connie J Mulligan, Astrid Rasmussen, Tetsuo Ashizawa

Get full text

Acute onset of cerebellar ataxia in a spinocerebellar ataxia type 10 patient after use of steroids Início agudo de ataxia cerebelar em paciente com ataxia espinocerebelar tipo 10 a... by Adriana Moro, Renato P. Munhoz, Salmo Raskin, Torben C. Bezerra, Mariana Moscovich, Tetsuo Ashizawa, Hélio A.G. Teive

Get full text

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene by Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian, Mauricio Sittenfeld, Keith Johnson, Xi Lin, Tetsuo Ashizawa

Get full text

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure. by Karen N McFarland, Jilin Liu, Ivette Landrian, Ronald Godiska, Savita Shanker, Fahong Yu, William G Farmerie, Tetsuo Ashizawa

Get full text

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families by Hélio A. G. Teive, Renato P. Munhoz, Walter O. Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C. Werneck, Tetsuo Ashizawa

Get full text

Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. by John C Middlebrooks, Harry S Nick, S H Subramony, Joel Advincula, Raymond L Rosales, Lillian V Lee, Tetsuo Ashizawa, Michael F Waters

Get full text

Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection by Hélio Afonso Ghizoni Teive, Adriana Moro, Mariana Moscovich, Walter Oleskho Arruda, Renato Puppi Munhoz, Salmo Raskin, Gladys Mary Ghizoni Teive, Norberto Dallabrida, Tetsuo Ashizawa

Get full text

Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. by Khalaf Bushara, Matthew Bower, Jilin Liu, Karen N McFarland, Ivette Landrian, Diane Hutter, Hélio A G Teive, Astrid Rasmussen, Connie J Mulligan, Tetsuo Ashizawa

Get full text

Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion by Yongxing Zhou, Raman Sood, Qun Wang, Blake Carrington, Morgan Park, Alice C. Young, Daniel Birnbaum, Zhao Liu, Tetsuo Ashizawa, James C. Mullikin, Mohamad Z. Koubeissi, Paul Liu

Get full text

Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues by Genko Oyama, Amanda Thompson, Kelly D. Foote, Natlada Limotai, Muhammad Abd‐El‐Barr, Nicholas Maling, Irene A. Malaty, Ramon L. Rodriguez, Sankarasubramoney H. Subramony, Tetsuo Ashizawa, Michael S. Okun

Get full text

Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China. by Chunrong Wang, Zhao Chen, Fang Yang, Bin Jiao, Huirong Peng, Yuting Shi, Yaqin Wang, Fengzhen Huang, Junling Wang, Lu Shen, Kun Xia, Beisha Tang, Tetsuo Ashizawa, Hong Jiang

Get full text

Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. by Zhe Long, Zhao Chen, Chunrong Wang, Fengzhen Huang, Huirong Peng, Xuan Hou, Dongxue Ding, Wei Ye, Junling Wang, Qian Pan, Jiada Li, Kun Xia, Beisha Tang, Tetsuo Ashizawa, Hong Jiang

Get full text

Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3. by Rui Gao, Yongping Liu, Anabela Silva-Fernandes, Xiang Fang, Adriana Paulucci-Holthauzen, Arpita Chatterjee, Hang L Zhang, Tohru Matsuura, Sanjeev Choudhary, Tetsuo Ashizawa, Arnulf H Koeppen, Patricia Maciel, Tapas K Hazra, Partha S Sarkar

Get full text

Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. by Misti C White, Rui Gao, Weidong Xu, Santi M Mandal, Jung G Lim, Tapas K Hazra, Maki Wakamiya, Sharon F Edwards, Salmo Raskin, Hélio A G Teive, Huda Y Zoghbi, Partha S Sarkar, Tetsuo Ashizawa

Get full text

Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. by Adam Kurkiewicz, Anneli Cooper, Emily McIlwaine, Sarah A Cumming, Berit Adam, Ralf Krahe, Jack Puymirat, Benedikt Schoser, Lubov Timchenko, Tetsuo Ashizawa, Charles A Thornton, Simon Rogers, John D McClure, Darren G Monckton

Get full text