Phenotypic Variability of Familial and Sporadic Progranulin p.Gln257Profs*27 Mutation

Keywords

Computer science, Business, Geography, Public relations, Marketing

References

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• Low Serum Progranulin Predicts the Presence of Mutations: A Prospective StudyEmma Schofield, Glenda M. Halliday, John B. Kwok — 2010
• Intra-Familial Clinical Heterogeneity due to FTLD-U with TDP-43 Proteinopathy Caused by a Novel Deletion in Progranulin Gene (PGRN)Tomasz Gabryelewicz, Mario Masellis, Mariusz Berdyński — 2011
• Frontotemporal lobar degenerationDavid Neary, Julie S. Snowden, Lars Gustafson — 1998
• Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutationsJonathan D. Rohrer, Gerard R. Ridgway, Marc Modat — 2010
• An algorithm for genetic testing of frontotemporal lobar degenerationJill Goldman, Rosa Rademakers, Edward D. Huey — 2011
• Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Marc Cruts, Ilse Gijselinck, Julie van der Zee — 2006
• Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadicsJennifer L. Whitwell, Stephen D. Weigand, Bradley F. Boeve — 2012
• Phenotypic variation in hereditary frontotemporal dementia with tau mutationsJohn C. van Swieten, M Stevens, Sonia M. Rosso — 1999
• Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Matt Baker, Ian R. Mackenzie, Stuart Pickering‐Brown — 2006
• Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72Bradley F. Boeve, Khrista Boylan, Neill R. Graff‐Radford — 2012
• Phenotypic signatures of genetic frontotemporal dementia.Jonathan D. Rohrer, Jason D. Warren — 2011
• Intrafamilial clinical phenotypic heterogeneity with progranulin gene p.Glu498fs mutation.A. J. Larner — 2012
• The heritability and genetics of frontotemporal lobar degenerationJonathan D. Rohrer, Rita Guerreiro, Jana Vandrovcová — 2009
• Extrapyramidal Syndromes in Frontotemporal DegenerationAndrew Kertesz, Paul McMonagle, Sarah Jesso — 2011
• A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate RepeatsJulie van der Zee, Ilse Gijselinck, Lubina Dillen — 2012
• Progranulin-associated primary progressive aphasia: A distinct phenotype?Jonathan D. Rohrer, Sebastian J. Crutch, Elizabeth K. Warrington — 2010
• Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohortSheng Chih Jin, Pau Pástor, Breanna Cooper — 2012
• Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.Jennifer Gass, Ashley Cannon, Ian R. Mackenzie — 2006
• The Spectrum of Mutations in ProgranulinChang-En Yu, Thomas D. Bird, Lynn M. Bekris — 2010

Cited by

• Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-AnalysisCarmen Gasca‐Salas, Mario Masellis, Edwin Khoo — 2016
• Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal SyndromesDaniela Galimberti, Kelly Bertram, A. Formica — 2016
• Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one familyAnne Sieben, Sara Van Mossevelde, Eline Wauters — 2018
• Genotype–phenotype links in frontotemporal lobar degenerationSara Van Mossevelde, Sebastiaan Engelborghs, Julie van der Zee — 2018
• Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.Vincent Huin, Mathieu Barbier, Armand Bottani — 2019
• Reply: Early-onset phenotype of bi-allelic GRN mutations.Vincent Huin, Mathieu Barbier, Alexandra Dürr — 2020
• FTD-PSP is an Unusual Clinical Phenotype in A Frontotemporal Dementia Patient with A Novel Progranulin MutationBin Deng, Zhe Zheng, Jialing Zheng — 2021
• Progranulin and Central Nervous System DisordersHideaki Hara, Masato Hosokawa, Shinsuke Nakamura — 2019
• Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal DementiaMaria Rosário Almeida, Miguel Tábuas‐Pereira, Inês Baldeiras — 2023
• Progranulin and Frontotemporal Lobar DegenerationM. Hosokawa, T. Arai — 2019

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