Associated Papers
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.1-Class3_variants
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects.
Lin F et al.
Bmc Medical Genomics, 2021
Neurofilaments and Neurofilament Proteins in Health and Disease.
Yuan A et al.
Cold Spring Harbor Perspectives in Biology, 2017
Emerging mechanisms of molecular pathology in ALS.
Peters OM et al.
The Journal of Clinical Investigation, 2015
The genetics and neuropathology of amyotrophic lateral sclerosis.
Al-Chalabi A et al.
Acta Neuropathologica, 2012
Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.
Garcia ML et al.
Neurobiology of Disease, 2006
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