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Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Himmelreich N, Dimitrov B, Zielonka M, Hüllen A, Hoffmann GF, Juenger H, Müller H, Lorenz I, Busse B, Marschall C, Schlüter G, Thiel C. Himmelreich N, et al. Among authors: marschall c. Mol Genet Metab. 2022 Aug;136(4):274-281. doi: 10.1016/j.ymgme.2022.06.005. Epub 2022 Jun 26. Mol Genet Metab. 2022. PMID: 35839600 Review.
Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.
Moscu-Gregor A, Marschall C, Müntjes C, Schönecker A, Schuessler-Hahn F, Hohendanner F, Parwani AS, Boldt LH, Ott CE, Bennewiz A, Paul T, Krause U, Rost I. Moscu-Gregor A, et al. Among authors: marschall c. J Cardiovasc Electrophysiol. 2020 Jun;31(6):1527-1535. doi: 10.1111/jce.14446. Epub 2020 Mar 22. J Cardiovasc Electrophysiol. 2020. PMID: 32173957
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G. Frédéric MY, et al. Among authors: marschall c. Hum Mutat. 2009 Feb;30(2):181-90. doi: 10.1002/humu.20794. Hum Mutat. 2009. PMID: 18767143 Free article.
36 results