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
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
Roos P et al.
Acta Neurologica Scandinavica, 2022
Cortical Frontoparietal Network Dysfunction in CHMP2B-Frontotemporal Dementia.
Musaeus CS et al.
Frontiers in Aging Neuroscience, 2021
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Ranganathan R et al.
Frontiers in Neuroscience, 2020
Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation.
Toft A et al.
Dementia and Geriatric Cognitive Disorders, 2020
CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers.
Rostgaard N et al.
Neurology, 2018
Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family.
Lindquist SG et al.
European Journal of Neurology, 2008
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