Biskup S - Search Results

1

New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia.

Saathoff Y, Biskup S, Funke C, Roth C. Saathoff Y, et al. Among authors: biskup s. J Mov Disord. 2021 Jan;14(1):70-74. doi: 10.14802/jmd.20082. Epub 2020 Oct 31. J Mov Disord. 2021. PMID: 33121221 Free PMC article.

2

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C. Rydning SL, et al. Among authors: biskup s. Eur J Neurol. 2018 Jul;25(7):943-e71. doi: 10.1111/ene.13625. Epub 2018 Apr 15. Eur J Neurol. 2018. PMID: 29528531

3

Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders.

Bergner CG, Neuhofer CM, Funke C, Biskup S, von Gottberg P, Bartels C, Koch JC, Radenbach K. Bergner CG, et al. Among authors: biskup s. Front Neurosci. 2020 Dec 22;14:559670. doi: 10.3389/fnins.2020.559670. eCollection 2020. Front Neurosci. 2020. PMID: 33424531 Free PMC article.

4

IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures.

Ganos C, Zittel S, Hidding U, Funke C, Biskup S, Bhatia KP. Ganos C, et al. Among authors: biskup s. Parkinsonism Relat Disord. 2019 Nov;68:57-59. doi: 10.1016/j.parkreldis.2019.09.020. Epub 2019 Sep 17. Parkinsonism Relat Disord. 2019. PMID: 31621620 No abstract available.

5

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.

Hermann A, Kitzler HH, Pollack T, Biskup S, Krüger S, Funke C, Terrile C, Haack TB. Hermann A, et al. Among authors: biskup s. Tremor Other Hyperkinet Mov (N Y). 2017 Aug 8;7:465. doi: 10.7916/D8251WB0. eCollection 2017. Tremor Other Hyperkinet Mov (N Y). 2017. PMID: 29082105 Free PMC article.

6

Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.

Nikonishyna YV, Ortner NJ, Kaserer T, Hoffmann J, Biskup S, Dafotakis M, Reetz K, Schulz JB, Striessnig J, Dohrn MF. Nikonishyna YV, et al. Among authors: biskup s. Mov Disord. 2022 Feb;37(2):401-404. doi: 10.1002/mds.28835. Epub 2021 Oct 14. Mov Disord. 2022. PMID: 34647648

7

Novel Mutation in the TSFM Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions.

van Riesen AK, Biskup S, Kühn AA, Kaindl AM, van Riesen C. van Riesen AK, et al. Among authors: biskup s. Mov Disord Clin Pract. 2021 Feb 5;8(3):453-455. doi: 10.1002/mdc3.13144. eCollection 2021 Apr. Mov Disord Clin Pract. 2021. PMID: 33816677 Free PMC article. No abstract available.

8

Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation.

Mainka T, Biskup S, Kühn AA, Klein C, Lohmann K, Ganos C. Mainka T, et al. Among authors: biskup s. Mov Disord Clin Pract. 2020 Apr 3;7(4):453-455. doi: 10.1002/mdc3.12931. eCollection 2020 May. Mov Disord Clin Pract. 2020. PMID: 32373663 Free PMC article. No abstract available.

9

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

Winter P, Kamm C, Biskup S, Köhler A, Leube B, Auburger G, Gasser T, Benecke R, Müller U. Winter P, et al. Among authors: biskup s. Mov Disord. 2012 Dec;27(14):1819-21. doi: 10.1002/mds.25219. Epub 2012 Oct 31. Mov Disord. 2012. PMID: 23115116

10

Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.

Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S. Zech M, et al. Among authors: biskup s. Mov Disord. 2022 Jan;37(1):137-147. doi: 10.1002/mds.28804. Epub 2021 Oct 1. Mov Disord. 2022. PMID: 34596301

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