Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions

por Zhang, Nan, Ashizawa, Tetsuo
Publicado 2022

The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10

por Kurosaki, Tatsuaki, Ashizawa, Tetsuo
Publicado 2022

Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder

por McFarland, Karen N., Ashizawa, Tetsuo
Publicado 2012

Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies

por Xia, Guangbin, Terada, Naohiro, Ashizawa, Tetsuo
Publicado 2018

Primary coenzyme Q10 deficiency due to COQ8A gene mutations

por Zhang, Linwei, Ashizawa, Tetsuo, Peng, Dantao
Publicado 2020

Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA

por Lin, Chih-Chun, Ashizawa, Tetsuo, Kuo, Sheng-Han
Publicado 2020

Paroxysmal Kinesigenic Dyskinesia-like Symptoms in a Patient with Tourette Syndrome

por Oyama, Genko, Okun, Michael S., Ashizawa, Tetsuo, Malaty, Irene A.
Publicado 2011

A CRISPR-Cas13a Based Strategy That Tracks and Degrades Toxic RNA in Myotonic Dystrophy Type 1

por Zhang, Nan, Bewick, Brittani, Xia, Guangbin, Furling, Denis, Ashizawa, Tetsuo
Publicado 2020

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

por Landrian, Ivette, McFarland, Karen N., Liu, Jilin, Mulligan, Connie J., Rasmussen, Astrid, Ashizawa, Tetsuo
Publicado 2017

Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13

por Subramony, SH, Advincula, Joel, Perlman, Susan, Rosales, Raymond L., Lee, Lillian V., Ashizawa, Tetsuo, Waters, Michael F.
Publicado 2013

Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia

por Taheri Amin, Arian, Faber, Jennifer, Önder, Demet, Kimmich, Okka, Synofzik, Matthis, Ashizawa, Tetsuo, Klockgether, Thomas, Grobe‐Einsler, Marcus
Publicado 2023

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure

por McFarland, Karen N., Liu, Jilin, Landrian, Ivette, Godiska, Ronald, Shanker, Savita, Yu, Fahong, Farmerie, William G., Ashizawa, Tetsuo
Publicado 2015

Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families

por Teive, Hélio A. G., Munhoz, Renato P., Arruda, Walter O., Lopes-Cendes, Iscia, Raskin, Salmo, Werneck, Lineu C., Ashizawa, Tetsuo
Publicado 2012

Mutation in the Kv3.3 Voltage-Gated Potassium Channel Causing Spinocerebellar Ataxia 13 Disrupts Sound-Localization Mechanisms

por Middlebrooks, John C., Nick, Harry S., Subramony, S. H., Advincula, Joel, Rosales, Raymond L., Lee, Lillian V., Ashizawa, Tetsuo, Waters, Michael F.
Publicado 2013

Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9

por Wang, Yanlin, Hao, Lei, Wang, Hongcai, Santostefano, Katherine, Thapa, Arjun, Cleary, John, Li, Hui, Guo, Xiuming, Terada, Naohiro, Ashizawa, Tetsuo, Xia, Guangbin
Publicado 2018

DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases

por Zhang, Nan, Bewick, Brittani, Schultz, Jason, Tiwari, Anjana, Krencik, Robert, Zhang, Aijun, Adachi, Kaho, Xia, Guangbin, Yun, Kyuson, Sarkar, Partha, Ashizawa, Tetsuo
Publicado 2021

Expansion of the Spinocerebellar Ataxia Type 10 (SCA10) Repeat in a Patient with Sioux Native American Ancestry

por Bushara, Khalaf, Bower, Matthew, Liu, Jilin, McFarland, Karen N., Landrian, Ivette, Hutter, Diane, Teive, Hélio A. G., Rasmussen, Astrid, Mulligan, Connie J., Ashizawa, Tetsuo
Publicado 2013

Spinocerebellar ataxia type 10 in Chinese Han

por Wang, Kang, McFarland, Karen N., Liu, Jilin, Zeng, Desmond, Landrian, Ivette, Xia, Guangbin, Hao, Ying, Jin, Miao, Mulligan, Connie J., Gu, Weihong, Ashizawa, Tetsuo
Publicado 2015

Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion

por Zhou, Yongxing, Sood, Raman, Wang, Qun, Carrington, Blake, Park, Morgan, Young, Alice C., Birnbaum, Daniel, Liu, Zhao, Ashizawa, Tetsuo, Mullikin, James C., Koubeissi, Mohamad Z., Liu, Paul
Publicado 2021

Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues

por Oyama, Genko, Thompson, Amanda, Foote, Kelly D., Limotai, Natlada, Abd-El-Barr, Muhammad, Maling, Nicholas, Malaty, Irene A., Rodriguez, Ramon L., Subramony, Sankarasubramoney H., Ashizawa, Tetsuo, Okun, Michael S.
Publicado 2014