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Genetics

D-Index
76
Citations
22396
World Ranking
1821
National Ranking
839

Overview

Tetsuo Ashizawa is affiliated with Houston Methodist in the United States. Their research focuses on the intersections of biochemistry, genetics, molecular biology, neuroscience, and medicine, with a particular emphasis on molecular biology and cellular and molecular neuroscience.

Their work covers various main topics including genetic neurodegenerative diseases, mitochondrial function and pathology, neurological disorders and treatments, Parkinson's disease mechanisms and treatments, DNA repair mechanisms, RNA research and splicing, and neurological and metabolic disorders.

Recent publications by Tetsuo Ashizawa include:

  • Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy, 2020, Annals of Neurology
  • Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions, 2022, Nature Reviews Neurology
  • Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial, 2023, The Lancet Neurology
  • Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective, 2022, Movement Disorders
  • Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis, 2020, Proceedings of the National Academy of Sciences

Frequent co-authors collaborating with Ashizawa include:

  • Henry L. Paulson
  • Khalaf Bushara
  • S. H. Subramony
  • Jeremy D. Schmahmann
  • Sheng-Han Kuo

They have contributed to multiple publications in various scientific venues, with the most frequent being:

  • The Cerebellum
  • Movement Disorders
  • Neurology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Parkinsonism & Related Disorders

Best Publications

  • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel

    Olga Zhuchenko;Jennifer Bailey;Penelope Bonnen;Tetsuo Ashizawa;Tetsuo Ashizawa

  • An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

    Y. H. Fu;A. Pizzuti;R. G. Fenwick;J. King

  • Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.

    Demetrius M. Maraganore;Mariza De Andrade;Alexis Elbaz;Matthew J. Farrer

  • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

    Tohru Matsuura;Tohru Matsuura;Takanori Yamagata;Daniel L. Burgess;Astrid Rasmussen

  • Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia New diagnostic criteria

    M. K. Bruno;M. Hallett;K. Gwinn-Hardy;B. Sorensen

  • The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.

    Sanjay I. Bidichandani;Tetsuo Ashizawa;Tetsuo Ashizawa;Pragna I. Patel

  • CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

    J.-M. Lee;E.M. Ramos;J.-H. Lee;T. Gillis

  • Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

    Fu Yh;Friedman Dl;Richards S;Pearlman Ja

  • Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

    Konstantinos Charizanis;Kuang Yung Lee;Kuang Yung Lee;Ranjan Batra;Marianne Goodwin

  • Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale

    S. H. Subramony;W. May;D. Lynch;C. Gomez

  • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

    D. G. Monckton;L. J C Wong;T. Ashizawa;C. T. Caskey

  • RNA CUG Repeats Sequester CUGBP1 and Alter Protein Levels and Activity of CUGBP1

    Nikolai A. Timchenko;Zong Jin Cai;Alana L. Welm;Sita Reddy

  • Successful aging: Advancing the science of physical independence in older adults.

    Stephen D. Anton;Adam J. Woods;Tetsuo Ashizawa;Diana Barb

  • Variability and validity of polymorphism association studies in Parkinson's disease.

    E. K. Tan;M. Khajavi;J. I. Thornby;S. Nagamitsu

  • Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

    Hsien Yang Lee;Yong Huang;Yong Huang;Nadine Bruneau;Patrice Roll

  • New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)

    T. Ashizawa;I. Gonzales;N. Ohsawa;R. H. Singer

  • Spinocerebellar ataxias: prospects and challenges for therapy development

    Tetsuo Ashizawa;Gülin Öz;Henry L. Paulson

  • Somatic instability of CTG repeat in myotonic dystrophy

    Tetsuo Ashizawa;Jacqueline R. Dubel;Yadollah Harati

  • Measuring Friedreich ataxia Complementary features of examination and performance measures

    D. R. Lynch;J. M. Farmer;A. Y. Tsou;S. Perlman

  • Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia

    M. K. Bruno;M. Hallett;K. Gwinn-Hardy;B. Sorensen

Frequent Co-Authors

Susan Perlman
Susan Perlman University of California, Los Angeles
Christopher M. Gomez
Christopher M. Gomez University of Chicago
Joseph Jankovic
Joseph Jankovic Baylor College of Medicine
Stefan M. Pulst
Stefan M. Pulst University of Utah
Henry L. Paulson
Henry L. Paulson University of Michigan–Ann Arbor
Sheng-Han Kuo
Sheng-Han Kuo Columbia University Medical Center
Jeremy D. Schmahmann
Jeremy D. Schmahmann Harvard Medical School
David A. Lynch
David A. Lynch Children's Hospital of Philadelphia
Vikram G. Shakkottai
Vikram G. Shakkottai The University of Texas Southwestern Medical Center
Marcy E. MacDonald
Marcy E. MacDonald Harvard University

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