Biskup S - Search Results

1

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.

2

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

3

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S. Kuehlewein L, et al. Among authors: biskup s. Graefes Arch Clin Exp Ophthalmol. 2019 Mar;257(3):629-638. doi: 10.1007/s00417-018-04233-7. Epub 2019 Jan 17. Graefes Arch Clin Exp Ophthalmol. 2019. PMID: 30656474

4

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.

Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schöls L. Synofzik M, et al. Among authors: biskup s. J Med Genet. 2011 Oct;48(10):713-5. doi: 10.1136/jmg.2011.090282. Epub 2011 Jul 11. J Med Genet. 2011. PMID: 21749991

5

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.

Synofzik M, Maetzler W, Grehl T, Prudlo J, Vom Hagen JM, Haack T, Rebassoo P, Munz M, Schöls L, Biskup S. Synofzik M, et al. Among authors: biskup s. Neurobiol Aging. 2012 Dec;33(12):2949.e13-7. doi: 10.1016/j.neurobiolaging.2012.07.002. Epub 2012 Aug 11. Neurobiol Aging. 2012. PMID: 22892309

6

Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Bender B, Klose U, Lindig T, Biskup S, Nägele T, Schöls L, Karle KN. Bender B, et al. Among authors: biskup s. J Neurol. 2014 Dec;261(12):2351-9. doi: 10.1007/s00415-014-7509-2. Epub 2014 Sep 20. J Neurol. 2014. PMID: 25239393

7

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M. Wilke C, et al. Among authors: biskup s. Neurobiol Aging. 2018 Feb;62:244.e9-244.e13. doi: 10.1016/j.neurobiolaging.2017.10.010. Epub 2017 Oct 24. Neurobiol Aging. 2018. PMID: 29137817

8

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Traschütz A, Hayer SN, Bender B, Schöls L, Biskup S, Synofzik M. Traschütz A, et al. Among authors: biskup s. Parkinsonism Relat Disord. 2019 Mar;60:176-178. doi: 10.1016/j.parkreldis.2018.09.031. Epub 2018 Sep 29. Parkinsonism Relat Disord. 2019. PMID: 30297209 No abstract available.

9

Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.

Gburek-Augustat J, Schoene-Bake JC, Bültmann E, Haack T, Buchert R, Synofzik M, Biskup S, Feuerhake F, Sorge I, Hartmann H. Gburek-Augustat J, et al. Among authors: biskup s. Neuropediatrics. 2021 Aug;52(4):274-283. doi: 10.1055/s-0041-1726306. Epub 2021 Mar 31. Neuropediatrics. 2021. PMID: 33791999

10

D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS.

Synofzik M, Hagen JM, Biskup S, Schöls L. Synofzik M, et al. Among authors: biskup s. Amyotroph Lateral Scler. 2012 May;13(3):326-7. doi: 10.3109/17482968.2012.656312. Epub 2012 Mar 13. Amyotroph Lateral Scler. 2012. PMID: 22409356 No abstract available.

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