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Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Zech M, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Dincer Y, Sadr-Nabavi A, Serranová T, Rektorová I, Havránková P, Ganai S, Mosejová A, Příhodová I, Šarláková J, Kulcsarová K, Ulmanová O, Bechyně K, Ostrozovičová M, Haň V, Ventosa JR, Shariati M, Shoeibi A, Weber S, Mollenhauer B, Trenkwalder C, Berutti R, Strom TM, Ceballos-Baumann A, Mall V, Haslinger B, Jech R, Winkelmann J. Zech M, et al. Among authors: weber s. Parkinsonism Relat Disord. 2021 Mar;84:129-134. doi: 10.1016/j.parkreldis.2021.02.013. Epub 2021 Feb 12. Parkinsonism Relat Disord. 2021. PMID: 33611074
Prodromal Parkinson disease - time is brain.
Weber S, Mollenhauer B. Weber S, et al. Nat Rev Neurol. 2021 Jun;17(6):329-330. doi: 10.1038/s41582-021-00489-6. Nat Rev Neurol. 2021. PMID: 33824494 No abstract available.
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Mirza-Schreiber N, et al. Among authors: weber s. Brain. 2022 Apr 18;145(2):644-654. doi: 10.1093/brain/awab360. Brain. 2022. PMID: 34590685
Accurate Detection of α-Synuclein Seeds in Cerebrospinal Fluid from Isolated Rapid Eye Movement Sleep Behavior Disorder and Patients with Parkinson's Disease in the DeNovo Parkinson (DeNoPa) Cohort.
Concha-Marambio L, Weber S, Farris CM, Dakna M, Lang E, Wicke T, Ma Y, Starke M, Ebentheuer J, Sixel-Döring F, Muntean ML, Schade S, Trenkwalder C, Soto C, Mollenhauer B. Concha-Marambio L, et al. Among authors: weber s. Mov Disord. 2023 Apr;38(4):567-578. doi: 10.1002/mds.29329. Epub 2023 Feb 13. Mov Disord. 2023. PMID: 36781413 Free PMC article.
Lysosomal and synaptic dysfunction markers in longitudinal cerebrospinal fluid of de novo Parkinson's disease.
Bartl M, Nilsson J, Dakna M, Weber S, Schade S, Xylaki M, Fernandes Gomes B, Ernst M, Muntean ML, Sixel-Döring F, Trenkwalder C, Zetterberg H, Brinkmalm A, Mollenhauer B. Bartl M, et al. Among authors: weber s. NPJ Parkinsons Dis. 2024 May 17;10(1):102. doi: 10.1038/s41531-024-00714-1. NPJ Parkinsons Dis. 2024. PMID: 38760408 Free PMC article.
3,508 results