Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG23
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Martino J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
Ahram DF et al.
Journal of the American Society of Nephrology : Jasn, 2023
Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis.
Vidic C et al.
Molecular and Cellular Pediatrics, 2021
34608560 (PubMed )
Supplement: 40348_2021_122_MOESM4_ESM.xlsx › Tabelle1
Mutations in DSTYK and dominant urinary tract malformations.
Sanna-Cherchi S et al.
The New England Journal of Medicine, 2013
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