Associated Papers
Functional variants of CFAP410 affect the DNA damage response leading to motor neuron degeneration - Implications for ALS.
Ferguson R et al.
Iscience, 2025
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 2025
C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.
De Decker M et al.
Brain : a Journal of Neurology, 2025
Emerging roles of primary cilia in the pathogenesis of amyotrophic lateral sclerosis.
Takahashi H et al.
Frontiers in Neuroscience, 2025
ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
Zelina P et al.
Acta Neuropathologica Communications, 2024
Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.
Scaber J et al.
European Journal of Neurology, 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
Computational analysis of five neurodegenerative diseases reveals shared and specific genetic loci.
Maselli F et al.
Computational and Structural Biotechnology Journal, 2023
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Restuadi R et al.
Genome Medicine, 2022
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Rodriguez-Muñoz A et al.
Scientific Reports, 2022
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W et al.
Nature Genetics, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3.
Watanabe Y et al.
Iscience, 2020
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
McCann EP et al.
Journal of Medical Genetics, 2020
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation.
Kurashige T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
Prediction of structural consequences for disease causing variants in C21orf2 protein using computational approaches.
Iyer S et al.
Journal of Biomolecular Structure & Dynamics, 2019
Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.
Sharma R et al.
Mutation Research. Reviews in Mutation Research, 0