Associated Papers
Two Families With Amyotrophic Lateral Sclerosis Founder Mutation TARDBP p.G298S in Hong Kong.
Yip MK et al.
Cureus, 2025
Presence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis.
Dong S et al.
Phenomics (cham, Switzerland), 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
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam.
Truong AT et al.
Surgical Neurology International, 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
A de novo Mutation in the MTUS1 Gene Decreases the Risk of Non-compaction of Ventricular Myocardium via the Rac1/Cdc42 Pathway.
Bai X et al.
Frontiers in Pediatrics, 2019
31338350 (PubMed )
Supplement: Data_Sheet_1.pdf
Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.
Zhang H et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018
Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations.
Agathangelidis A et al.
Haematologica, 2018
29449433 (PubMed )
Supplement: 2017.177212.AGATHANGELIDIS_SUPPL.pdf
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.
Pang SY et al.
Neurobiology of Aging, 2017
Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.
Nam DE et al.
Journal of the Peripheral Nervous System : Jpns, 2017
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