Rautenstrauss B - Search Results

1

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.

Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Walter MC, Rautenstrauss B, Schnizer TJ, Schenone A, Seeman P, Kadian C, Schreiber O, Angarita NG, Fabrizi GM, Gemignani F, Padua L, Santoro L, Quattrone A, Vita G, Calabrese D; CMT-TRIAAL/CMT-TRAUK Group; Young P, Laurà M, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Shy ME, Reilly MM, Pareyson D, Sereda MW. Mannil M, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 2014 Nov;24(11):1003-17. doi: 10.1016/j.nmd.2014.06.431. Epub 2014 Jun 19. Neuromuscul Disord. 2014. PMID: 25085517 Clinical Trial.

2

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.

Fledrich R, Schlotter-Weigel B, Schnizer TJ, Wichert SP, Stassart RM, Meyer zu Hörste G, Klink A, Weiss BG, Haag U, Walter MC, Rautenstrauss B, Paulus W, Rossner MJ, Sereda MW. Fledrich R, et al. Among authors: rautenstrauss b. Brain. 2012 Jan;135(Pt 1):72-87. doi: 10.1093/brain/awr322. Epub 2011 Dec 20. Brain. 2012. PMID: 22189569

3

Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.

Safka Brožková D, Nevšímalová S, Mazanec R, Rautenstrauss B, Seeman P. Safka Brožková D, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 2012 Aug;22(8):742-6. doi: 10.1016/j.nmd.2012.04.002. Epub 2012 Apr 28. Neuromuscul Disord. 2012. PMID: 22546699

4

Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, Seeman P. Lassuthová P, et al. Among authors: rautenstrauss b. J Hum Genet. 2009 Jun;54(6):365-8. doi: 10.1038/jhg.2009.43. Epub 2009 May 8. J Hum Genet. 2009. PMID: 19424285

5

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC. Schreiber O, et al. Among authors: rautenstrauss b. BMC Med Genet. 2013 Sep 16;14:92. doi: 10.1186/1471-2350-14-92. BMC Med Genet. 2013. PMID: 24041033 Free PMC article.

6

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.

Mikesová E, Hühne K, Rautenstrauss B, Mazanec R, Baránková L, Vyhnálek M, Horácek O, Seeman P. Mikesová E, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 2005 Nov;15(11):764-7. doi: 10.1016/j.nmd.2005.08.001. Epub 2005 Sep 29. Neuromuscul Disord. 2005. PMID: 16198564

7

Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.

Haberlová J, Mazanec R, Ridzoň P, Baránková L, Nürnberg G, Nürnberg P, Sticht H, Huehne K, Seeman P, Rautenstrauss B. Haberlová J, et al. Among authors: rautenstrauss b. J Neurogenet. 2011 Dec;25(4):182-8. doi: 10.3109/01677063.2011.627484. J Neurogenet. 2011. PMID: 22091729

8

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.

Seeman P, Mazanec R, Zidar J, Hrusáková S, Ctvrtecková M, Rautenstrauss B. Seeman P, et al. Among authors: rautenstrauss b. Int J Mol Med. 2000 Oct;6(4):421-6. doi: 10.3892/ijmm.6.4.421. Int J Mol Med. 2000. PMID: 10998431

9

Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.

Seeman P, Mazanec R, Marikova T, Rautenstrauss B. Seeman P, et al. Among authors: rautenstrauss b. Ann N Y Acad Sci. 1999 Sep 14;883:485-9. Ann N Y Acad Sci. 1999. PMID: 10586280 No abstract available.

10

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.

Berghoff C, Berghoff M, Leal A, Morera B, Barrantes R, Reis A, Neundörfer B, Rautenstrauss B, Del Valle G, Heuss D. Berghoff C, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 2004 May;14(5):301-6. doi: 10.1016/j.nmd.2004.02.004. Neuromuscul Disord. 2004. PMID: 15099588

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