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STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.
Essop F, Dillon B, Mhlongo F, Bhengu L, Naicker T, Lambie L, Smit L, Fieggen K, Lochan A, Dawson J, Mpangase P, Hauptfleisch M, Scher G, Tabane O, Immelman M, Urban M, Krause A. Essop F, et al. Among authors: krause a. Eur J Hum Genet. 2025 Jan;33(1):14-23. doi: 10.1038/s41431-024-01644-5. Epub 2024 Jun 1. Eur J Hum Genet. 2025. PMID: 38824262 Free PMC article.
Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.
Essop F, Dillon B, Mhlongo F, Bhengu L, Naicker T, Lambie L, Smit L, Fieggen K, Lochan A, Dawson J, Mpangase P, Hauptfleisch M, Scher G, Tabane O, Immelman M, Urban M, Krause A. Essop F, et al. Among authors: krause a. Eur J Hum Genet. 2024 Jul 30. doi: 10.1038/s41431-024-01669-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39080471 No abstract available.
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.
Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R. Krause A, et al. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26079385 Free PMC article.
A Systematic Review of the Huntington Disease-Like 2 Phenotype.
Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A. Anderson DG, et al. Among authors: krause a. J Huntingtons Dis. 2017;6(1):37-46. doi: 10.3233/JHD-160232. J Huntingtons Dis. 2017. PMID: 28339400 Review.
1,058 results