Concepedia

Repeat Expansion Disorders

Repeat Expansion Disorders is a genetic disorder characterized by the abnormal expansion of repetitive DNA sequences within specific genes, distinguished from other inherited mutations by the dynamic intergenerational increase in repeat length that can lead to neurodevelopmental and neurodegenerative dysfunction.

940

Publications

93.5K

Citations

6.2K

Authors

1.5K

Institutions

Publications per year

2017–2026

256

Variants

Repeat Expansion Diseases

Parents

Publications

940

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

, , +13

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.5K citations · Full text

, , +14

Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice

Laura Mangiarini, Kirupa Sathasivam, Mary J. Seller et al. · Cell · 1996 · 3.1K citations · Full text

, , +17

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

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

1–5 of 940

Authors

6.2K

  1. KU
    Karen Usdin

    National Institute of Diabetes and Digestive and Kidney Diseases, United States

    24 publications · 1.2K citations

    22

    h-index

  2. TA
    Tetsuo Ashizawa

    University of Florida, United States

    23 publications · 2.6K citations

    21

    h-index

  3. HH
    Henry Houlden

    University College London, United Kingdom

    21 publications · 3.6K citations

    20

    h-index

  4. LP
    Leonard Petrucelli

    Mayo Clinic in Florida, United States

    20 publications · 2.7K citations

    19

    h-index

  5. RR
    Rosa Rademakers

    Mayo Clinic in Florida, United States

    21 publications · 3.3K citations

    19

    h-index

1–5 of 6.2K

Institutions

1.5K

  1. Inserm

    Paris, France

    33 h-index

    204 publications

    27.5K citations

  2. University College London

    London, United Kingdom

    33 h-index

    463 publications

    117.8K citations

  3. National Institutes of Health

    Bethesda, United States

    30 h-index

    132 publications

    86.4K citations

  4. Mayo Clinic in Florida

    Jacksonville, United States

    27 h-index

    263 publications

    46.6K citations

  5. National Hospital for Neurology and Neurosurgery

    London, United Kingdom

    27 h-index

    267 publications

    80.7K citations

  6. Baylor College of Medicine

    Houston, United States

    24 h-index

    77 publications

    15.5K citations

  7. Johns Hopkins University

    Baltimore, United States

    23 h-index

    115 publications

    26.3K citations

  8. Harvard University

    Cambridge, United States

    22 h-index

    126 publications

    20.8K citations

1–8 of 1.5K

Venues

  1. Human Molecular Genetics

    77 publications · 8.4K citations

    57

    h-index

  2. Neurology

    45 publications · 3.5K citations

    32

    h-index

  3. Annals of Neurology

    25 publications · 2.5K citations

    23

    h-index

  4. Nucleic Acids Research

    28 publications · 2K citations

    23

    h-index

  5. Journal of Medical Genetics

    JMG · 26 publications · 1.9K citations

    22

    h-index

1–5