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Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S, Oktay Y, Hiz S, Aranguren-Ibáñez Á, Kalafatcilar I, Yaramis A, Karaca E, Yis U, Sonmezler E, Ekinci B, Aslan M, Yilmaz E, Özgör B, Balaraju S, Szabo N, Laurie S, Beltran S, MacArthur DG, Hathazi D, Töpf A, Roos A, Lochmuller H, Vernos I, Horvath R. Gungor S, et al. Among authors: lochmuller h. iScience. 2020 Dec 30;24(1):101948. doi: 10.1016/j.isci.2020.101948. eCollection 2021 Jan 22. iScience. 2020. PMID: 33458610 Free PMC article.
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.
Marina AD, Schara U, Pyle A, Möller-Hartmann C, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, Griffin H, Santibanez-Koref M, Chinnery PF, Horvath R. Marina AD, et al. Among authors: lochmuller h. JIMD Rep. 2013;10:17-22. doi: 10.1007/8904_2012_195. Epub 2012 Nov 18. JIMD Rep. 2013. PMID: 23430795 Free PMC article.
Optimization of Internally Deleted Dystrophin Constructs.
Reza M, Laval SH, Roos A, Carr S, Lochmüller H. Reza M, et al. Among authors: lochmuller h. Hum Gene Ther Methods. 2016 Oct;27(5):174-186. doi: 10.1089/hgtb.2016.026. Epub 2016 Jul 31. Hum Gene Ther Methods. 2016. PMID: 27477497
Phenotypic convergence of Menkes and Wilson disease.
Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R. Bansagi B, et al. Among authors: lochmuller h. Neurol Genet. 2016 Nov 17;2(6):e119. doi: 10.1212/NXG.0000000000000119. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27878136 Free PMC article.
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
Perić S, Glumac JN, Töpf A, Savić-Pavićević D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkušanin M, Milenković S, Rašić VM, Banko B, Maksimović R, Lochmüller H, Stojanović VR, Straub V. Perić S, et al. Among authors: lochmuller h. Eur J Hum Genet. 2017 May;25(5):572-581. doi: 10.1038/ejhg.2017.16. Epub 2017 Mar 15. Eur J Hum Genet. 2017. PMID: 28295036 Free PMC article.
689 results