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2003 1
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Page 1
SLK is mutated in individuals with a neurodevelopmental disorder.
Alabdi L, Altuwaijri N, Zhu JY, Efthymiou S, Lee H, Duan J, Salem I, Yu P, Abdullah NL, Alzahrani F, Xu Q, Felemban MM, Alfaifi A, Rahman F, Christoforou M, Maqbool S, Martinez-Agosto JA, Alsaif HS, Hashem M, Helaby R, Alsulaiman A; SYNaPS Study Group; Queen Square Genomics; Maroofian R, Houlden H, Arold ST, Ibrahim LA, Han Z, Alkuraya FS. Alabdi L, et al. EBioMedicine. 2025 Jun;116:105725. doi: 10.1016/j.ebiom.2025.105725. Epub 2025 May 9. EBioMedicine. 2025. PMID: 40347834 Free PMC article.
The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort.
Dawson J, Kay C, Black HF, Bortnick S, Javier K, Xia Q, Sandhu A, Buchanan C, Hogg V, Chang FCF, Goto J, Arning L, Saft C, Bijlsma EK, Nguyen HP, Roxburgh R, Hayden MR. Dawson J, et al. Among authors: arning l. Genet Med. 2024 Nov;26(11):101239. doi: 10.1016/j.gim.2024.101239. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140258 Free article.
Hepatic mitochondrial dysfunction in Friedreich ataxia.
Stüwe SH, Goetze O, Arning L, Banasch M, Schmidt WE, Schöls L, Saft C. Stüwe SH, et al. Among authors: arning l. BMC Neurol. 2011 Nov 15;11:145. doi: 10.1186/1471-2377-11-145. BMC Neurol. 2011. PMID: 22085827 Free PMC article.
111 results