Associated Papers
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients.
Ganoza CA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
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
The first report of ceroid lipofuscinosis type 11 in China: a novel mutation of GRN and updated clinical review.
Shi D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Research Square, 2025
Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.
Maximiano-Alves G et al.
Neurogenetics, 2025
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
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.
Almeida MR et al.
International Journal of Molecular Sciences, 2023
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
Kolesnikova M et al.
Investigative Ophthalmology & Visual Science, 2023
Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.
Chu M et al.
Journal of Alzheimer's Disease : Jad, 2023
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
Reply: Early-onset phenotype of bi-allelic GRN mutations.
Huin V et al.
Brain : a Journal of Neurology, 2021
Early-onset phenotype of bi-allelic GRN mutations.
Neuray C et al.
Brain : a Journal of Neurology, 2021
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
Moore KM et al.
The Lancet. Neurology, 2020
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V et al.
Brain : a Journal of Neurology, 2020
A new phenotype associated with homozygous GRN mutations: complicated spastic paraplegia.
Faber I et al.
European Journal of Neurology, 2017
Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation.
Pires C et al.
Journal of Alzheimer's Disease : Jad, 2013