Klopstock T - 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: klopstock t. 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

Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions.

Bender A, Schwarzkopf RM, McMillan A, Krishnan KJ, Rieder G, Neumann M, Elstner M, Turnbull DM, Klopstock T. Bender A, et al. Among authors: klopstock t. J Neurol. 2008 Aug;255(8):1231-5. doi: 10.1007/s00415-008-0892-9. Epub 2008 Jul 11. J Neurol. 2008. PMID: 18604467

3

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.

Horváth R, Bender A, Abicht A, Holinski-Feder E, Czermin B, Trips T, Schneiderat P, Lochmüller H, Klopstock T. Horváth R, et al. Among authors: klopstock t. J Neurol. 2009 May;256(5):810-5. doi: 10.1007/s00415-009-5023-8. Epub 2009 Mar 1. J Neurol. 2009. PMID: 19252805

4

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R. Walter MC, et al. Among authors: klopstock t. J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20. J Neurol. 2010. PMID: 20405137

5

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.

Strupp M, Kalla R, Claassen J, Adrion C, Mansmann U, Klopstock T, Freilinger T, Neugebauer H, Spiegel R, Dichgans M, Lehmann-Horn F, Jurkat-Rott K, Brandt T, Jen JC, Jahn K. Strupp M, et al. Among authors: klopstock t. Neurology. 2011 Jul 19;77(3):269-75. doi: 10.1212/WNL.0b013e318225ab07. Epub 2011 Jul 6. Neurology. 2011. PMID: 21734179 Free PMC article. Clinical Trial.

6

Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy.

Klopstock T, Metz G, Yu-Wai-Man P, Büchner B, Gallenmüller C, Bailie M, Nwali N, Griffiths PG, von Livonius B, Reznicek L, Rouleau J, Coppard N, Meier T, Chinnery PF. Klopstock T, et al. Brain. 2013 Feb;136(Pt 2):e230. doi: 10.1093/brain/aws279. Epub 2013 Feb 6. Brain. 2013. PMID: 23388409 Free PMC article. Clinical Trial. No abstract available.

7

Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series.

Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, Klopstock T, Feil K. Strupp M, et al. Among authors: klopstock t. J Neurol. 2013 Oct;260(10):2556-61. doi: 10.1007/s00415-013-7016-x. Epub 2013 Jul 9. J Neurol. 2013. PMID: 23835634 Free PMC article.

8

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: klopstock t. 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

9

[Leber's hereditary optic neuropathy - phenotype, genetics, therapeutic options].

Gallenmüller C, Klopstock T. Gallenmüller C, et al. Among authors: klopstock t. Klin Monbl Augenheilkd. 2014 Mar;231(3):216-21. doi: 10.1055/s-0033-1360144. Epub 2014 Mar 21. Klin Monbl Augenheilkd. 2014. PMID: 24658858 Review. German.

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: klopstock t. 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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