Associated Papers
A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration.
Rubio-Guerra S et al.
Annals of Clinical and Translational 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
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
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Prediction and verification of the AD-FTLD common pathomechanism based on dynamic molecular network analysis.
Jin M et al.
Communications Biology, 2021
Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis.
Ugbode C et al.
Neurobiology of Disease, 2021
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Ranganathan R et al.
Frontiers in Neuroscience, 2020
Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.
Toth RP et al.
Frontiers in Immunology, 2018
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
Clayton EL et al.
Human Molecular Genetics, 2017
The role of CHMP2BIntron5 in autophagy and frontotemporal dementia.
Krasniak CS et al.
Brain Research, 2016
Review: an update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations.
Lashley T et al.
Neuropathology and Applied Neurobiology, 2015
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
Clayton EL et al.
Acta Neuropathologica, 2015
A network of RNA and protein interactions in Fronto Temporal Dementia.
Fontana F et al.
Frontiers in Molecular Neuroscience, 2015
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.
Van Langenhove T et al.
Jama Neurology, 2013
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
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.
Ghanim M et al.
Journal of Neurology, 2010
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
Urwin H et al.
Human Molecular Genetics, 2010
The role of CHMP2B in frontotemporal dementia.
Urwin H et al.
Biochemical Society Transactions, 2009
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
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update.
van der Zee J et al.
Neuro-degenerative Diseases, 2007
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
Recent advances in the molecular genetics of frontotemporal lobar degeneration.
Rainero I et al.
Functional Neurology, 0