Associated Papers
The genetic architecture of primary lateral sclerosis in a cohort of Italian patients.
Schito P et al.
Journal of Neurology, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 2025
Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.
Pensato V et al.
Journal of Neurology, 2025
The Molecular Intersection of NEK1, C21ORF2, Cyclin F, and VCP in ALS Pathogenesis.
Watanabe Y et al.
Genes, 2025
Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis.
Rifai OM et al.
Brain Pathology (zurich, Switzerland), 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
Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.
Leighton DJ et al.
Journal of Neurology, 2024
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.
Nagy ZF et al.
Bmc Medical Genomics, 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
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.
Gregorczyk M et al.
Life Science Alliance, 2023
Genetic and clinical characteristics of ALS patients with NEK1 gene variants.
Jiang Q et al.
Neurobiology of Aging, 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
An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature.
Sánchez-Tejerina D et al.
Genes, 2022
Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.
Su WM et al.
Bmc Medicine, 2022
Axial Impairment Following Deep Brain Stimulation in Parkinson's Disease: A Surgicogenomic Approach.
Visanji NP et al.
Journal of Parkinson's Disease, 2022
NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis.
Riva N et al.
Frontiers in Neuroscience, 2022
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation.
Wang H et al.
Nature Communications, 2021
NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis.
Yao L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
Lattante S et al.
Human Molecular Genetics, 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
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
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
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
McCann EP et al.
Journal of Medical Genetics, 2020
Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics.
Goldstein O et al.
Journal of the Neurological Sciences, 2019
A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families.
Veyssiere M et al.
Plos One, 2019
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.
Tripolszki K et al.
Frontiers in Genetics, 2019
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
NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.
Nguyen HP et al.
Neurobiology of Aging, 2018
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
Gratten J et al.
Genome Medicine, 2017
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
Benyamin B et al.
Nature Communications, 2017
Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.
Garton FC et al.
Molecular Genetics & Genomic Medicine, 2017
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Kenna KP et al.
Nature Genetics, 2016
NEK1 mutations in familial amyotrophic lateral sclerosis.
Brenner D et al.
Brain : a Journal of Neurology, 2016