Karle KN - Search Results

1

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.

2

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

3

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

4

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

5

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. Füger P, et al. Among authors: karle kn. PLoS Genet. 2012;8(11):e1003066. doi: 10.1371/journal.pgen.1003066. Epub 2012 Nov 29. PLoS Genet. 2012. PMID: 23209432 Free PMC article.

6

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.

7

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

8

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. Schlipf NA, et al. Among authors: karle kn. Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25. Mol Genet Genomic Med. 2014. PMID: 25333062 Free PMC article.

9

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

10

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L. Schlipf NA, et al. Eur J Hum Genet. 2010 Sep;18(9):1065-7. doi: 10.1038/ejhg.2010.68. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461110 Free PMC article.

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