Concepedia

Grn Mutations

GRN Mutations is a genetic alteration in the progranulin (GRN) gene, characterized by loss-of-function variants that disrupt lysosomal and inflammatory regulation, thereby conferring a high risk for frontotemporal lobar degeneration with TDP-43 pathology.

239

Publications

15.6K

Citations

1.8K

Authors

542

Institutions

Publications per year

2017–2026

113

Parents

Publications

239

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John A. Damiano, Silvana Franceschetti et al. · The American Journal of Human Genetics · 2012 · 492 citations · Full text

, , +17

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

NiCole A. Finch, Matthew B. Baker, Richard Crook et al. · Brain · 2009 · 382 citations · Full text

, , +17

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

Isabelle Le Ber, Agnès Camuzat, Didier Hannequin et al. · Brain · 2008 · 349 citations

, , +17

Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

Carlos Cruchaga, Sumitra Chakraverty, Kevin H. Mayo et al. · PLoS ONE · 2012 · 330 citations · Full text

, , +17

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

Rosa Rademakers, Jason L. Eriksen, Matt Baker et al. · Human Molecular Genetics · 2008 · 295 citations · Full text

, , +17

1–5 of 239

Authors

1.8K

  1. JC
    John C. van Swieten

    Erasmus MC, Netherlands

    28 publications · 1.7K citations

    25

    h-index

  2. RR
    Rosa Rademakers

    Mayo Clinic in Florida, United States

    35 publications · 2.1K citations

    24

    h-index

  3. DG
    Daniela Galimberti

    University of Milan, Italy

    32 publications · 1.7K citations

    24

    h-index

  4. JD
    Jonathan D. Rohrer

    University College London, United Kingdom

    25 publications · 1.8K citations

    22

    h-index

  5. CF
    Chiara Fenoglio

    University of Milan, Italy

    23 publications · 1K citations

    19

    h-index

1–5 of 1.8K

Institutions

542

  1. University College London

    London, United Kingdom

    27 h-index

    324 publications

    22.4K citations

  2. Mayo Clinic in Florida

    Jacksonville, United States

    24 h-index

    280 publications

    31.9K citations

  3. University of Milan

    Milan, Italy

    24 h-index

    136 publications

    6.5K citations

  4. UK Dementia Research Institute

    London, United Kingdom

    23 h-index

    229 publications

    14.1K citations

  5. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

    Milan, Italy

    23 h-index

    132 publications

    6.3K citations

  6. Erasmus MC

    Rotterdam, The Netherlands

    21 h-index

    141 publications

    7.2K citations

  7. Inserm

    Paris, France

    21 h-index

    261 publications

    20.3K citations

  8. Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan, Italy

    20 h-index

    68 publications

    4.9K citations

1–8 of 542

Venues

  1. Journal of Alzheimer s Disease

    JAD · 27 publications · 723 citations

    15

    h-index

  2. Acta Neuropathologica Communications

    15 publications · 668 citations

    14

    h-index

  3. Neurology

    12 publications · 804 citations

    12

    h-index

  4. Brain

    11 publications · 1.6K citations

    11

    h-index

  5. Neurobiology of Aging

    12 publications · 437 citations

    11

    h-index

1–5