Associated Papers
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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
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
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
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Autophagy Dysfunction in ALS: from Transport to Protein Degradation.
Cozzi M et al.
Journal of Molecular Neuroscience : Mn, 2022
Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis.
Ugbode C et al.
Neurobiology of Disease, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 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
Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.
Hardy J et al.
Experimental Neurology, 2014
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
Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: implication for protein aggregation and immune response.
Bendotti C et al.
Progress in Neurobiology, 2012
Frontotemporal dementia caused by CHMP2B mutations.
Isaacs AM et al.
Current Alzheimer Research, 2011
FTD and ALS: a tale of two diseases.
Ferrari R 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
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
Cox LE et al.
Plos One, 2010