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Items: 19

1.

Neurobiological correlates of emotional intelligence in voice and face perception networks.

Karle KN, Ethofer T, Jacob H, Brück C, Erb M, Lotze M, Nizielski S, Schütz A, Wildgruber D, Kreifelts B.

Soc Cogn Affect Neurosci. 2018 Feb 1;13(2):233-244. doi: 10.1093/scan/nsy001.

2.

DNA methylation signatures of chronic alcohol dependence in purified CD3+ T-cells of patients undergoing alcohol treatment.

Brückmann C, Islam SA, MacIsaac JL, Morin AM, Karle KN, Di Santo A, Wüst R, Lang I, Batra A, Kobor MS, Nieratschker V.

Sci Rep. 2017 Jul 26;7(1):6605. doi: 10.1038/s41598-017-06847-z.

3.

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR.

Ann Neurol. 2016 Oct;80(4). doi: 10.1002/ana.24762. Epub 2016 Sep 9.

4.

Validation of differential GDAP1 DNA methylation in alcohol dependence and its potential function as a biomarker for disease severity and therapy outcome.

Brückmann C, Di Santo A, Karle KN, Batra A, Nieratschker V.

Epigenetics. 2016 Jun 2;11(6):456-63. doi: 10.1080/15592294.2016.1179411. Epub 2016 Apr 29.

5.

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.

Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L.

Ann Neurol. 2016 Apr;79(4):646-58. doi: 10.1002/ana.24611. Epub 2016 Mar 11.

PMID:
26856398
6.

Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.

Lindig T, Bender B, Hauser TK, Mang S, Schweikardt D, Klose U, Karle KN, Schüle R, Schöls L, Rattay TW.

J Neurol. 2015 Aug;262(8):1961-71. doi: 10.1007/s00415-015-7791-7. Epub 2015 Jun 9.

PMID:
26050637
7.

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P.

Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25.

8.

Clozapine serum concentrations in dopamimetic psychosis in Parkinson's disease and related disorders.

Lutz UC, Sirfy A, Wiatr G, Altpass D, Farger G, Gasser T, Karle KN, Batra A.

Eur J Clin Pharmacol. 2014 Dec;70(12):1471-6. doi: 10.1007/s00228-014-1772-0. Epub 2014 Oct 18.

PMID:
25323805
9.

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.

J Neurol. 2014 Dec;261(12):2351-9. doi: 10.1007/s00415-014-7509-2. Epub 2014 Sep 20.

PMID:
25239393
10.

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schüle R, Züchner S, Schöls L, Wissinger B, Synofzik M.

Brain. 2014 Aug;137(Pt 8):2164-77. doi: 10.1093/brain/awu165. Epub 2014 Jun 25.

11.

Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.

Müller vom Hagen J, Karle KN, Schüle R, Krägeloh-Mann I, Schöls L.

Eur J Neurol. 2014 Jul;21(7):983-8. doi: 10.1111/ene.12423. Epub 2014 Apr 2.

PMID:
24698313
12.

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.

Neurology. 2013 Dec 3;81(23):2039-44. doi: 10.1212/01.wnl.0000436945.01023.ac. Epub 2013 Nov 6.

PMID:
24198292
13.

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).

Karle KN, Schüle R, Klebe S, Otto S, Frischholz C, Liepelt-Scarfone I, Schöls L.

Orphanet J Rare Dis. 2013 Oct 9;8:158. doi: 10.1186/1750-1172-8-158.

14.

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

Beetz C, Koch N, Khundadze M, Zimmer G, Nietzsche S, Hertel N, Huebner AK, Mumtaz R, Schweizer M, Dirren E, Karle KN, Irintchev A, Alvarez V, Redies C, Westermann M, Kurth I, Deufel T, Kessels MM, Qualmann B, Hübner CA.

J Clin Invest. 2013 Oct;123(10):4273-82. doi: 10.1172/JCI65665. Epub 2013 Sep 24. Erratum in: J Clin Invest. 2014 Jun 2;124(6):2809.

15.

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.

Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41.

16.

Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model.

Füger P, Sreekumar V, Schüle R, Kern JV, Stanchev DT, Schneider CD, Karle KN, Daub KJ, Siegert VK, Flötenmeyer M, Schwarz H, Schöls L, Rasse TM.

PLoS Genet. 2012;8(11):e1003066. doi: 10.1371/journal.pgen.1003066. Epub 2012 Nov 29. Erratum in: PLoS Genet. 2013 Apr;9(4). doi: 10.1371/annotation/2f7219d5-14a3-4df8-a9ff-1a1f11251b27.

17.

Axonal transport deficit in a KIF5A( -/- ) mouse model.

Karle KN, Möckel D, Reid E, Schöls L.

Neurogenetics. 2012 May;13(2):169-79. doi: 10.1007/s10048-012-0324-y. Epub 2012 Apr 1.

18.

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P.

Clin Genet. 2011 Aug;80(2):148-60. doi: 10.1111/j.1399-0004.2011.01715.x. Epub 2011 Jun 13.

PMID:
21623769
19.

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Schüle R, Brandt E, Karle KN, Tsaousidou M, Klebe S, Klimpe S, Auer-Grumbach M, Crosby AH, Hübner CA, Schöls L, Deufel T, Beetz C.

Neurogenetics. 2009 Apr;10(2):97-104. doi: 10.1007/s10048-008-0158-9. Epub 2008 Oct 15.

PMID:
18855023

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