Biskup S - Search Results

1

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.

2

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.

3

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

Karin I, Borggraefe I, Catarino CB, Kuhm C, Hoertnagel K, Biskup S, Opladen T, Blau N, Heinen F, Klopstock T. Karin I, et al. Among authors: biskup s. J Neurol. 2017 Mar;264(3):578-582. doi: 10.1007/s00415-016-8387-6. Epub 2017 Jan 4. J Neurol. 2017. PMID: 28054128 No abstract available.

4

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Catarino CB, Vollmar C, Küpper C, Seelos K, Gallenmüller C, Bartkiewicz J, Biskup S, Hörtnagel K, Klopstock T. Catarino CB, et al. Among authors: biskup s. J Neurol. 2018 Feb;265(2):388-393. doi: 10.1007/s00415-017-8711-9. Epub 2017 Dec 19. J Neurol. 2018. PMID: 29260356

5

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.

D'Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T. D'Adamo MC, et al. Among authors: biskup s. Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollection 2014. Front Physiol. 2015. PMID: 25642194 Free PMC article.

6

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease.

Synofzik M, Born C, Rominger A, Lummel N, Schöls L, Biskup S, Schüle C, Grasshoff U, Klopstock T, Adamczyk C. Synofzik M, et al. Among authors: biskup s. Neurobiol Aging. 2014 May;35(5):1212.e1-5. doi: 10.1016/j.neurobiolaging.2013.10.092. Epub 2013 Oct 29. Neurobiol Aging. 2014. PMID: 24300238

7

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T. Catarino CB, et al. Among authors: biskup s. Mitochondrion. 2017 Sep;36:15-20. doi: 10.1016/j.mito.2016.10.002. Epub 2016 Oct 6. Mitochondrion. 2017. PMID: 27721048

8

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

9

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD_ND ): Time to Move Beyond the Skin.

Cordts I, Önder D, Traschütz A, Kobeleva X, Karin I, Minnerop M, Koertvelyessy P, Biskup S, Forchhammer S, Binder J, Tzschach A, Meiss F, Schmidt A, Kreiß M, Cremer K, Mensah MA, Park J, Rautenberg M, Deininger N, Sturm M, Lingor P, Klopstock T, Weiler M, Marxreiter F, Synofzik M, Posch C, Sirokay J, Klockgether T, Haack TB, Deschauer M. Cordts I, et al. Among authors: biskup s. Mov Disord. 2022 Aug;37(8):1707-1718. doi: 10.1002/mds.29071. Epub 2022 Jun 14. Mov Disord. 2022. PMID: 35699229

10

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.

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