Biskup S - Search Results

1

Diffuse leukoencephalopathy with spheroids: biopsy findings and a novel mutation.

Levin J, Tiedt S, Arzberger T, Biskup S, Schuberth M, Stenglein-Krapf G, Kreth FW, Högen T, la Fougère C, Linn J, van der Knaap MS, Giese A, Kretzschmar HA, Danek A. Levin J, et al. Among authors: biskup s. Clin Neurol Neurosurg. 2014 Jul;122:113-5. doi: 10.1016/j.clineuro.2014.04.022. Epub 2014 May 4. Clin Neurol Neurosurg. 2014. PMID: 24908228 No abstract available.

2

[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment].

Schuberth M, Levin J, Sawalhe D, Schwarzkopf R, von Baumgarten L, Ertl-Wagner B, Rominger A, Arzberger T, Kretzschmar HA, Froböse T, Diehl-Schmid J, Biskup S, Danek A. Schuberth M, et al. Among authors: biskup s. Nervenarzt. 2014 Apr;85(4):465-70. doi: 10.1007/s00115-014-4052-4. Nervenarzt. 2014. PMID: 24706185 German.

3

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

4

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

5

Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.

Meyer-Ohlendorf M, Braczynski A, Al-Qaisi O, Gessler F, Biskup S, Weise L, Steinbach JP, Wagner M, Mittelbronn M, Bähr O. Meyer-Ohlendorf M, et al. Among authors: biskup s. BMC Neurol. 2015 Jul 4;15:103. doi: 10.1186/s12883-015-0368-3. BMC Neurol. 2015. PMID: 26141177 Free PMC article.

6

Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effects.

Vöglein J, Willem M, Trambauer J, Schönecker S, Dieterich M, Biskup S, Giudici C, Utz K, Oberstein T, Brendel M, Rominger A, Danek A, Steiner H, Haass C, Levin J. Vöglein J, et al. Among authors: biskup s. Neurobiol Aging. 2019 Dec;84:241.e5-241.e11. doi: 10.1016/j.neurobiolaging.2019.08.034. Epub 2019 Sep 20. Neurobiol Aging. 2019. PMID: 31627977

7

Expanded phenotype of AARS1-related white matter disease.

Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA. Helman G, et al. Among authors: biskup s. Genet Med. 2021 Dec;23(12):2352-2359. doi: 10.1038/s41436-021-01286-8. Epub 2021 Aug 27. Genet Med. 2021. PMID: 34446925 Free article.

8

Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.

Pera J, Lechner S, Biskup S, Strach M, Grodzicki T, Slowik A. Pera J, et al. Among authors: biskup s. Clin Neurol Neurosurg. 2015 Jan;128:44-6. doi: 10.1016/j.clineuro.2014.10.024. Epub 2014 Nov 6. Clin Neurol Neurosurg. 2015. PMID: 25462094 No abstract available.

9

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.

Stendel C, Gallenmüller C, Peters K, Bürger F, Gramer G, Biskup S, Klopstock T. Stendel C, et al. Among authors: biskup s. J Neurol. 2015;262(4):1072-3. doi: 10.1007/s00415-015-7729-0. Epub 2015 Apr 11. J Neurol. 2015. PMID: 25860343 No abstract available.

10

Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

Kuhm C, Gallenmüller C, Dörk T, Menzel M, Biskup S, Klopstock T. Kuhm C, et al. Among authors: biskup s. J Neurol. 2015 Mar;262(3):768-70. doi: 10.1007/s00415-015-7636-4. Epub 2015 Jan 9. J Neurol. 2015. PMID: 25572163 No abstract available.

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