Associated Papers
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.
Keogh MJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
29332010 (PubMed )
Supplement: jnnp-2017-317234supp001.pdf
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_Benign
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Krüger S et al.
Frontiers in Molecular Neuroscience, 2016
No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland.
Ingre C et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
van Blitterswijk M et al.
Neurobiology of Aging, 2012
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
Andersen PM et al.
Nature Reviews. Neurology, 2011
ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB.
Suzuki H et al.
Journal of Neurochemistry, 2009
Select a paper to view details