Concepedia

Mapt Mutations

MAPT Mutations is a genetic alteration in the microtubule-associated protein tau (MAPT) gene that disrupts tau protein function and regulation, leading to aberrant tau aggregation and neurodegeneration characteristic of certain forms of dementia.

373

Publications

24.4K

Citations

3K

Authors

874

Institutions

Publications per year

2017–2026

150

Variants

Microtubule-associated Protein Tau Mutations

Parents

Publications

373

The distinct cognitive syndromes of Parkinson's disease: 5 year follow-up of the CamPaIGN cohort

Caroline H. Williams‐Gray, Jonathan Evans, An Goris et al. · Brain · 2009 · 958 citations · Full text

, , +17

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

Jennifer Gass, Ashley Cannon, Ian R. Mackenzie et al. · Human Molecular Genetics · 2006 · 578 citations

, , +17

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis

Jonathan D. Rohrer, Jennifer Nicholas, David M. Cash et al. · The Lancet Neurology · 2015 · 544 citations · Full text

, , +17

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3

Caroline Vance, Ammar Al‐Chalabi, Deborah Ruddy et al. · Brain · 2006 · 382 citations · Full text

, , +17

Neurodegeneration and defective neurotransmission in a <i>Caenorhabditis elegans</i> model of tauopathy

Brian C. Kraemer, Bin Zhang, James B. Leverenz et al. · Proceedings of the National Academy of Sciences · 2003 · 374 citations · Full text

, , +17

1–5 of 373

Authors

3K

  1. JC
    John C. van Swieten

    Erasmus MC, Netherlands

    40 publications · 3.1K citations

    30

    h-index

  2. RR
    Rosa Rademakers

    Mayo Clinic in Florida, United States

    40 publications · 2.7K citations

    29

    h-index

  3. JD
    Jonathan D. Rohrer

    University College London, United Kingdom

    41 publications · 3K citations

    28

    h-index

  4. DG
    Daniela Galimberti

    University of Milan, Italy

    32 publications · 2.3K citations

    24

    h-index

  5. BB
    Barbara Borroni

    University of Brescia, Italy

    31 publications · 2.4K citations

    23

    h-index

1–5 of 3K

Institutions

874

  1. University College London

    London, United Kingdom

    44 h-index

    756 publications

    64.3K citations

  2. University of Cambridge

    Cambridge, United Kingdom

    35 h-index

    135 publications

    19.3K citations

  3. National Hospital for Neurology and Neurosurgery

    London, United Kingdom

    31 h-index

    295 publications

    21.5K citations

  4. UK Dementia Research Institute

    London, United Kingdom

    30 h-index

    304 publications

    25.2K citations

  5. Mayo Clinic in Florida

    Jacksonville, United States

    29 h-index

    318 publications

    21.3K citations

  6. Erasmus MC

    Rotterdam, The Netherlands

    26 h-index

    178 publications

    11.9K citations

  7. University of Brescia

    Brescia, Italy

    25 h-index

    109 publications

    7.5K citations

  8. University of Milan

    Milan, Italy

    25 h-index

    101 publications

    6.8K citations

1–8 of 874

Venues

  1. Neurology

    27 publications · 1.8K citations

    22

    h-index

  2. Brain

    22 publications · 3.4K citations

    21

    h-index

  3. Journal of Alzheimer s Disease

    JAD · 25 publications · 869 citations

    19

    h-index

  4. Neurobiology of Aging

    18 publications · 740 citations

    16

    h-index

  5. Human Molecular Genetics

    15 publications · 2.5K citations

    15

    h-index

1–5