Associated Papers
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
41240362 (PubMed )
Supplement: awaf423_supplementary_data.zip › brain-2025-01866-File011.xlsx › Supplementary_table_2
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Nóbrega PR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V et al.
Brain : a Journal of Neurology, 2020
Loss of exosomes in progranulin-associated frontotemporal dementia.
Benussi L et al.
Neurobiology of Aging, 2016
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.
Benussi L et al.
Neurobiology of Disease, 2009
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