Associated Papers
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Nuclear and degradative functions of the ESCRT-III pathway: implications for neurodegenerative disease.
Keeley O et al.
Nucleus (austin, Tex.), 2024
Modulating Golgi Stress Signaling Ameliorates Cell Morphological Phenotypes Induced by CHMP2B with Frontotemporal Dementia-Associated p.Asp148Tyr.
Fukatsu S et al.
Current Issues in Molecular Biology, 2024
FTD/ALS Type 7-Associated Thr104Asn Mutation of CHMP2B Blunts Neuronal Process Elongation, and Is Recovered by Knockdown of Arf4, the Golgi Stress Regulator.
Shirai R et al.
Neurology International, 2023
A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review.
Li C et al.
Molecular Genetics & Genomic Medicine, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathology.
Diab R et al.
Frontiers in Cellular Neuroscience, 2023
Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis.
Ugbode C et al.
Neurobiology of Disease, 2021
The role of CHMP2BIntron5 in autophagy and frontotemporal dementia.
Krasniak CS et al.
Brain Research, 2016
A network of RNA and protein interactions in Fronto Temporal Dementia.
Fontana F et al.
Frontiers in Molecular Neuroscience, 2015
The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway.
Han JH et al.
Biochemical and Biophysical Research Communications, 2012
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
Frontotemporal dementia caused by CHMP2B mutations.
Isaacs AM et al.
Current Alzheimer Research, 2011
Roles of ESCRT in autophagy-associated neurodegeneration.
Lee JA et al.
Autophagy, 2008
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
van der Zee J et al.
Human Molecular Genetics, 2008
The genetics of frontotemporal lobar degeneration.
Sikkink S et al.
Current Opinion in Neurology, 2007
ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration.
Lee JA et al.
Current Biology : Cb, 2007
The genetics of frontotemporal lobar degeneration.
Rademakers R et al.
Current Neurology and Neuroscience Reports, 2007
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update.
van der Zee J et al.
Neuro-degenerative Diseases, 2007
Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.
Talbot K et al.
Human Molecular Genetics, 2006
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.
Cannon A et al.
Neuroscience Letters, 2006
Genetic variability in CHMP2B and frontotemporal dementia.
Momeni P et al.
Neuro-degenerative Diseases, 2006
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
Skibinski G et al.
Nature Genetics, 2005
Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia.
Ferrari R et al.
Alzheimer Disease and Associated Disorders, 0