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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31.
Genet Med. 2023.
PMID: 37650884
No abstract available.
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert-Lo R, Baumann S, Schäferhoff K, Bertrand M, Menden B, Sturm M, Schütz L, Riess O, Ossowski S, Haack TB, Kagan KO.
Dufke A, et al. Among authors: menden b.
Prenat Diagn. 2022 Jun;42(7):901-910. doi: 10.1002/pd.6170. Epub 2022 May 20.
Prenat Diagn. 2022.
PMID: 35574990
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Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia.
Menden B, Gutschalk A, Wunderlich G, Haack TB.
Menden B, et al.
Mov Disord. 2022 May;37(5):1113-1115. doi: 10.1002/mds.29021.
Mov Disord. 2022.
PMID: 35587627
No abstract available.
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Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.
Welzel T, Oefelein L, Holzer U, Müller A, Menden B, Haack TB, Groβ M, Kuemmerle-Deschner JB.
Welzel T, et al. Among authors: menden b.
J Clin Med. 2022 Jul 27;11(15):4369. doi: 10.3390/jcm11154369.
J Clin Med. 2022.
PMID: 35955991
Free PMC article.
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H.
Park J, et al. Among authors: menden b.
Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20.
Genet Med. 2022.
PMID: 35986737
Free article.
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Genomes in clinical care.
Riess O, Sturm M, Menden B, Liebmann A, Demidov G, Witt D, Casadei N, Admard J, Schütz L, Ossowski S, Taylor S, Schaffer S, Schroeder C, Dufke A, Haack T.
Riess O, et al. Among authors: menden b.
NPJ Genom Med. 2024 Mar 14;9(1):20. doi: 10.1038/s41525-024-00402-2.
NPJ Genom Med. 2024.
PMID: 38485733
Free PMC article.
Review.
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Wheat cells accumulate a syringyl-rich lignin during the hypersensitive resistance response.
Menden B, Kohlhoff M, Moerschbacher BM.
Menden B, et al.
Phytochemistry. 2007 Feb;68(4):513-20. doi: 10.1016/j.phytochem.2006.11.011. Epub 2006 Dec 22.
Phytochemistry. 2007.
PMID: 17188312
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