Concepedia

Trinucleotide Repeat Disorders

Trinucleotide Repeat Disorders is a subclass of single-gene disorders characterized by the abnormal expansion of repeated sequences of three nucleotides within specific genes, leading to neurodegenerative and developmental impairments through unstable mutations that often exhibit anticipation.

598

Publications

60.4K

Citations

3.3K

Authors

948

Institutions

Publications per year

2017–2026

76

Variants

Trinucleotide Repeat Expansion DisordersTriplet Repeat DisordersTriplet Repeat Expansion Disorders

Parents

Publications

598

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Marcy E. MacDonald · Cell · 1993 · 8.4K citations · Full text

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi et al. · Cell · 1993 · 3.1K citations

, , +12

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Harry T. Orr, Ming‐Yi Chung, Sandro Banfi et al. · Nature Genetics · 1993 · 1.7K citations

, , +14

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

Mani S. Mahadevan, Catherine Tsilfidis, Luc A. Sabourin et al. · Science · 1992 · 1.7K citations

, , +14

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Susan E. Andrew, Y. Paul Goldberg, Berry Kremer et al. · Nature Genetics · 1993 · 1.1K citations

, , +12

1–5 of 598

Authors

3.3K

  1. ME
    Marcy E. MacDonald

    Massachusetts General Hospital, United States

    13 publications · 13.7K citations

    13

    h-index

  2. MR
    Michael R. Hayden

    University of British Columbia, Canada

    10 publications · 2.5K citations

    10

    h-index

  3. CE
    Christopher E. Pearson

    Hospital for Sick Children, Canada

    10 publications · 1.3K citations

    10

    h-index

  4. CA
    Christopher A. Ross

    Johns Hopkins University, United States

    10 publications · 2K citations

    10

    h-index

  5. JF
    James F. Gusella

    Massachusetts General Hospital, United States

    9 publications · 2.4K citations

    9

    h-index

1–5 of 3.3K

Institutions

948

  1. Johns Hopkins University

    Baltimore, United States

    23 h-index

    76 publications

    13.8K citations

  2. Inserm

    Paris, France

    21 h-index

    99 publications

    6.9K citations

  3. Baylor College of Medicine

    Houston, United States

    20 h-index

    68 publications

    21.5K citations

  4. Massachusetts General Hospital

    Boston, United States

    19 h-index

    104 publications

    30K citations

  5. University College London

    London, United Kingdom

    17 h-index

    68 publications

    4.8K citations

  6. Harvard University

    Cambridge, United States

    16 h-index

    49 publications

    18.6K citations

  7. Johns Hopkins Medicine

    Baltimore, United States

    16 h-index

    36 publications

    7.9K citations

  8. Hospital for Sick Children

    Toronto, Canada

    14 h-index

    37 publications

    3.3K citations

1–8 of 948

Venues

  1. Human Molecular Genetics

    48 publications · 5.1K citations

    41

    h-index

  2. PubMed

    Repository · 37 publications · 3.1K citations

    21

    h-index

  3. Nucleic Acids Research

    23 publications · 1.6K citations

    20

    h-index

  4. Annals of Neurology

    19 publications · 2.5K citations

    19

    h-index

  5. Neurology

    22 publications · 2K citations

    18

    h-index

1–5