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Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study; Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM. Josifova DJ, et al. Among authors: jungbluth h. Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. doi: 10.1093/hmg/ddw082. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27005418
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
Gika AD, Siddiqui A, Hulse AJ, Edward S, Fallon P, McEntagart ME, Jan W, Josifova D, Lerman-Sagie T, Drummond J, Thompson E, Refetoff S, Bönnemann CG, Jungbluth H. Gika AD, et al. Among authors: jungbluth h. Dev Med Child Neurol. 2010 May;52(5):475-82. doi: 10.1111/j.1469-8749.2009.03471.x. Epub 2009 Oct 7. Dev Med Child Neurol. 2010. PMID: 19811520 Free PMC article.
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Cullup T, et al. Among authors: jungbluth h. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222957 Free PMC article.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Lok A, Fernandez-Garcia MA, Taylor RW, French C, MacFarland R, Bodi I, Champion M, Josifova D, Raymond FL, Iuso A, Jungbluth H, Milan A, Singh RR. Lok A, et al. Among authors: jungbluth h. Am J Med Genet A. 2022 Sep;188(9):2783-2789. doi: 10.1002/ajmg.a.62848. Epub 2022 May 26. Am J Med Genet A. 2022. PMID: 35616428
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.
Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S. Rokach O, et al. Among authors: jungbluth h. Hum Mol Genet. 2015 Aug 15;24(16):4636-47. doi: 10.1093/hmg/ddv195. Epub 2015 May 27. Hum Mol Genet. 2015. PMID: 26019235
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F. Zaharieva IT, et al. Among authors: jungbluth h. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Hum Mutat. 2018. PMID: 30168660
Characterization of recessive RYR1 mutations in core myopathies.
Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S. Zhou H, et al. Among authors: jungbluth h. Hum Mol Genet. 2006 Sep 15;15(18):2791-803. doi: 10.1093/hmg/ddl221. Epub 2006 Aug 29. Hum Mol Genet. 2006. PMID: 16940308 Free article.
300 results