Karle KN - Search Results

1

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. Lindig T, et al. Among authors: karle kn. J Neurol. 2015 Aug;262(8):1961-71. doi: 10.1007/s00415-015-7791-7. Epub 2015 Jun 9. J Neurol. 2015. PMID: 26050637

2

Disease severity affects quality of life of hereditary spastic paraplegia patients.

Klimpe S, Schüle R, Kassubek J, Otto S, Kohl Z, Klebe S, Klopstock T, Ratzka S, Karle K, Schöls L. Klimpe S, et al. Eur J Neurol. 2012 Jan;19(1):168-71. doi: 10.1111/j.1468-1331.2011.03443.x. Epub 2011 Jun 1. Eur J Neurol. 2012. PMID: 21631647

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. 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: karle kn. 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

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. Schüle R, et al. Among authors: karle kn. Ann Neurol. 2016 Apr;79(4):646-58. doi: 10.1002/ana.24611. Epub 2016 Mar 11. Ann Neurol. 2016. PMID: 26856398

6

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

Müller vom Hagen J, Karle KN, Schüle R, Krägeloh-Mann I, Schöls L. Müller vom Hagen J, et al. Among authors: karle kn. Eur J Neurol. 2014 Jul;21(7):983-8. doi: 10.1111/ene.12423. Epub 2014 Apr 2. Eur J Neurol. 2014. PMID: 24698313

7

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. Karle KN, et al. Orphanet J Rare Dis. 2013 Oct 9;8:158. doi: 10.1186/1750-1172-8-158. Orphanet J Rare Dis. 2013. PMID: 24107482 Free PMC article.

8

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. Helbig KL, et al. Among authors: karle kn. Ann Neurol. 2016 Oct;80(4):638-42. doi: 10.1002/ana.24762. Epub 2016 Sep 9. Ann Neurol. 2016. PMID: 27543892 Free PMC article.

9

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

Bauer P, Winner B, Schüle R, Bauer C, Häfele V, Hehr U, Bonin M, Walter M, Karle K, Ringer TM, Riess O, Winkler J, Schöls L. Bauer P, et al. Neurogenetics. 2009 Feb;10(1):43-8. doi: 10.1007/s10048-008-0144-2. Epub 2008 Sep 12. Neurogenetics. 2009. PMID: 18787847

10

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. Schlipf NA, et al. Among authors: karle kn. Clin Genet. 2011 Aug;80(2):148-60. doi: 10.1111/j.1399-0004.2011.01715.x. Epub 2011 Jun 13. Clin Genet. 2011. PMID: 21623769

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