Associated Papers
NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons.
Santangelo S et al.
Human Molecular Genetics, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP
Prospects for gene replacement therapies in amyotrophic lateral sclerosis.
Giovannelli I et al.
Nature Reviews. 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
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis.
Riva N et al.
Frontiers in Neuroscience, 2022
35495032 (PubMed )
Supplement: Data_Sheet_1.docx
ALS Genetics: Gains, Losses, and Implications for Future Therapies.
Kim G et al.
Neuron, 2020
Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes.
Forsberg K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.
Higelin J et al.
Stem Cell Research, 2018
NEK1 mutations in familial amyotrophic lateral sclerosis.
Brenner D et al.
Brain : a Journal of Neurology, 2016
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