Concepedia

Age-at-onset Modifiers

Age-At-Onset Modifiers is a genetic or environmental factor that belongs to the class of phenotypic modifiers and specifically influences the timing of symptom manifestation in neurodegenerative diseases without altering the primary disease-causing mutation.

65

Publications

3.3K

Citations

1.6K

Authors

430

Institutions

Publications per year

2017–2026

15

Parents

Publications

65

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

J.-M. Lee, E.M. Ramos, J.-H. Lee et al. · Neurology · 2012 · 391 citations · Full text

, , +15

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

Fernando Morales, Jillian M. Couto, Catherine F. Higham et al. · Human Molecular Genetics · 2012 · 181 citations · Full text

, , +15

Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis

Hirohisa Watanabe, Mizuki Ito, Fumiaki Tanaka et al. · Journal of the Neurological Sciences · 2008 · 119 citations

, , +12

Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease

Miguel Luz Soares, Teresa Coelho, Alda Sousa et al. · Human Molecular Genetics · 2005 · 115 citations · Full text

, , +17

The clinical and screening age-at-onset distribution for the MEN-2 syndrome.

Douglas F. Easton, Margaret A. Ponder, T.S. Cummings et al. · PubMed · 1989 · 109 citations

, , +6

1–5 of 65

Authors

1.6K

  1. FL
    Francisco Lopera

    Universidad de Antioquia, Colombia

    5 publications · 270 citations

    5

    h-index

  2. JS
    Jorge Sequeiros

    Universidade do Porto, Portugal

    4 publications · 465 citations

    4

    h-index

  3. AS
    Alda Sousa

    Universidade do Porto, Portugal

    4 publications · 189 citations

    4

    h-index

  4. MA
    Mauricio Arcos‐Burgos

    Universidad de Antioquia, Colombia

    4 publications · 197 citations

    4

    h-index

  5. TC
    Teresa Coelho

    Hospital de Santo António, Portugal

    4 publications · 189 citations

    4

    h-index

1–5 of 1.6K

Institutions

430

  1. Massachusetts General Hospital

    Boston, United States

    6 h-index

    38 publications

    5.3K citations

  2. Inserm

    Paris, France

    6 h-index

    87 publications

    4.3K citations

  3. Harvard University

    Cambridge, United States

    5 h-index

    16 publications

    1.1K citations

  4. Assistance Publique – Hôpitaux de Paris

    Paris, France

    5 h-index

    36 publications

    1.7K citations

  5. Universidade do Porto

    Porto, Portugal

    5 h-index

    30 publications

    3.8K citations

  6. University of Toronto

    Toronto, Canada

    5 h-index

    41 publications

    4.6K citations

  7. Universidad de Antioquia

    Medellín, Colombia

    5 h-index

    33 publications

    1.8K citations

  8. University College London

    London, United Kingdom

    5 h-index

    54 publications

    14.5K citations

1–8 of 430

Venues

  1. Human Molecular Genetics

    5 publications · 460 citations

    5

    h-index

  2. Neurogenetics

    4 publications · 162 citations

    4

    h-index

  3. Brain

    3 publications · 92 citations

    3

    h-index

  4. Neurology

    2 publications · 417 citations

    2

    h-index

  5. Molecular Psychiatry

    2 publications · 154 citations

    2

    h-index

1–5