Biskup S - Search Results

1

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

2

Clinical variability in ataxia-telangiectasia.

Lohmann E, Krüger S, Hauser AK, Hanagasi H, Guven G, Erginel-Unaltuna N, Biskup S, Gasser T. Lohmann E, et al. Among authors: biskup s. J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z. Epub 2015 May 10. J Neurol. 2015. PMID: 25957637

3

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.

4

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.

5

A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Kurzwelly D, Krüger S, Biskup S, Heneka MT. Kurzwelly D, et al. Among authors: biskup s. Brain. 2015 Sep;138(Pt 9):e376. doi: 10.1093/brain/awv014. Epub 2015 Feb 12. Brain. 2015. PMID: 25681414 No abstract available.

6

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L. Karle KN, et al. Among authors: biskup s. Neurology. 2013 Dec 3;81(23):2039-44. doi: 10.1212/01.wnl.0000436945.01023.ac. Epub 2013 Nov 6. Neurology. 2013. PMID: 24198292

7

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L. Synofzik M, et al. Among authors: biskup s. Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41. Orphanet J Rare Dis. 2013. PMID: 23497566 Free PMC article.

8

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Krüger S, Battke F, Sprecher A, Munz M, Synofzik M, Schöls L, Gasser T, Grehl T, Prudlo J, Biskup S. Krüger S, et al. Among authors: biskup s. Front Mol Neurosci. 2016 Oct 13;9:92. doi: 10.3389/fnmol.2016.00092. eCollection 2016. Front Mol Neurosci. 2016. PMID: 27790088 Free PMC article.

9

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.

10

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.

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