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127 results

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Page 1
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene.
Ferbert A, Zibat A, Rautenstrauß B, Kress W, Hügens-Penzel M, Weis J, Shah Y, Roth C. Ferbert A, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 2016 Sep;26(9):598-603. doi: 10.1016/j.nmd.2016.06.458. Epub 2016 Jun 22. Neuromuscul Disord. 2016. PMID: 27469267
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J. Safka Brozkova D, et al. Among authors: rautenstrauss b. Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13. Brain. 2015. PMID: 26072516 Free PMC article.
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, Rautenstrauss B. Huehne K, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 2008 Feb;18(2):159-66. doi: 10.1016/j.nmd.2007.10.005. Epub 2008 Feb 20. Neuromuscul Disord. 2008. PMID: 18077166
Clinical and morphological phenotype of HMSN 1A mosaicism.
Grehl H, Rautenstrauss B, Liehr T, Bickel A, Ekici A, Bathke K, Neundörfer B. Grehl H, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 1997 Jan;7(1):27-31. doi: 10.1016/s0960-8966(96)00396-3. Neuromuscul Disord. 1997. PMID: 9132137
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.
127 results