Associated Papers
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Truncation mutation of CHMP2B disrupts late endosome function but reduces TDP-43 aggregation through HSP70 upregulation.
Iguchi Y et al.
Neurochemistry International, 2025
Nuclear and degradative functions of the ESCRT-III pathway: implications for neurodegenerative disease.
Keeley O et al.
Nucleus (austin, Tex.), 2024
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
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.
Bartoletti-Stella A et al.
Journal of Neurology, 2021
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Grassano M et al.
Neurology, 2021
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
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
Genetic architecture of common non-Alzheimer's disease dementias.
Guerreiro R et al.
Neurobiology of Disease, 2020
Quantitative patterns of motor cortex proteinopathy across ALS genotypes.
Nolan M et al.
Acta Neuropathologica Communications, 2020
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Defective neuronal and oligodendroglial differentiation by FTD3- and ALS17-associated Ile29-to-Val mutation of CHMP2B.
Yamawaki M et al.
Molecular Genetics and Metabolism Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
The role of CHMP2BIntron5 in autophagy and frontotemporal dementia.
Krasniak CS et al.
Brain Research, 2016
Exome sequencing in dementia with Lewy bodies.
Keogh MJ et al.
Translational Psychiatry, 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
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
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
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.
Rizzu P et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
Parkinson N et al.
Neurology, 2006
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