Associated Papers
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 2025
Clinical and Genetic Characteristics of Patients with Essential Tremor Who Develop Parkinson's Disease.
Buyukserbetci G et al.
Medicina (kaunas, Lithuania), 2025
Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.
Pensato V et al.
Journal of Neurology, 2025
Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.
Dols-Icardo O et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons.
Santangelo S et al.
Human Molecular Genetics, 2024
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
Caldi Gomes L et al.
Nature Communications, 2024
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.
Olsen CG et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
A dataset profiling the multiomic landscape of the prefrontal cortex in amyotrophic lateral sclerosis.
Hausmann F et al.
Gigascience, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
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
Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.
Gregorczyk M et al.
Life Science Alliance, 2023
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 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
NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis.
Riva N et al.
Frontiers in Neuroscience, 2022
NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation.
Wang H et al.
Nature Communications, 2021
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.
Naruse H et al.
Journal of Human Genetics, 2021
Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant.
Tsai YS et al.
Annals of Clinical and Translational Neurology, 2020
Genetics and Sex in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS): Is There a Link?
Trojsi F et al.
International Journal of Molecular Sciences, 2020
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
McCann EP et al.
Journal of Medical Genetics, 2020
Theme 2 Genetics and genomics.
Roggenbuck J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
Screening for TUBA4A mutations in a large Chinese cohort of patients with ALS: re-evaluating the pathogenesis of TUBA4A in ALS.
Li J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Mutation screening of NEK1 in Chinese ALS patients.
Shu S et al.
Neurobiology of Aging, 2018
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
Hot-spot KIF5A mutations cause familial ALS.
Brenner D et al.
Brain : a Journal of Neurology, 2018
NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.
Nguyen HP et al.
Neurobiology of Aging, 2018
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
Wang Z et al.
Journal of Human Genetics, 2017
NEK1 mutations in familial amyotrophic lateral sclerosis.
Brenner D et al.
Brain : a Journal of Neurology, 2016