Associated Papers
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.
Olsen CG et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
Wang Z et al.
Journal of Human Genetics, 2017
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
Monroe GR et al.
European Journal of Human Genetics : Ejhg, 2016
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2012
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J et al.
Journal of Medical Genetics, 2012
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2012
NEK1 mutations cause short-rib polydactyly syndrome type majewski.
Thiel C et al.
American Journal of Human Genetics, 2011
Select a paper to view details