Hallucinations and delusions are frequently reported in individuals with Dravet syndrome von Martin, J. Peter, Kümmerle, Annika, Rautenstrauß, B

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Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene von Ferbert, A, Zibat, A, Rautenstrauß, B, Kress, W, Hügens-Penzel, M, Weis, J, Shah, Y, Roth, C

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A family-based investigation of cold pain tolerance von Birklein, F., Depmeier, C., Rolke, R., Hansen, C., Rautenstrauss, B., Prawitt, D., Magerl, W.

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P67 MFN2 mutations cause compensatory mitochondrial DNA proliferation von Sitarz, K.S, Yu-Wai-Man, P, Pyle, A, Stewart, J.D, Rautenstrauss, B, Seeman, P, Reilly, M.M, Horvath, R, Chinnery, P.F

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Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation von SEEMAN, P, MAZANEC, R, HUEHNE, K, SUSLIKOVA, P, KELLER, O, RAUTENSTRAUSS, B

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Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life‐threatening vincristine neurotoxicity von Naumann, Ralph, Mohm, Johannes, Reuner, Ulrike, Kroschinsky, Frank, Rautenstrauss, Bernd, Ehninger, Gerhard

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Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases von Martin, P., Rautenstrauβ, B., Abicht, A., Fahrbach, J., Koster, S.

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Primary Congenital Glaucoma: Three Case Reports on Novel Mutations and Combinations of Mutations in the GLC3A (CYP1B1) Gene von Michels-Rautenstrauss, Karin G, Mardin, Christian Y, Zenker, Martin, Jordan, Nicole, Gusek-Schneider, Gabriele-Charlotte, Rautenstrauss, Bernd W

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Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis von Mikešová, E., Hühne, K., Rautenstrauss, B., Mazanec, R., Baránková, L., Vyhnálek, M., Horáček, O., Seeman, P.

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G.P.18.01 Giant axonal neuropathy: Phenotype–genotype correlations in two cases with two novel mutations in the Gigaxonin gene von Tazir, M, Hühne, K, Nouioua, S, Grid, D, Hamadouche, T, Rautenstrauss, B, Vallat, M

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A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma von Mardin, C Y, Velten, I, Ozbey, S, Rautenstrauss, B, Michels-Rautenstrauss, K

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Prospective case control study on genetic assocation of apolipoprotein ε2 with intraocular pressure von Jünemann, A, Wakili, N, Mardin, C, Naumann, G O H, Bleich, S, Henkel, K, Beck, G, Kornhuber, J, Reulbach, U, Rautenstrauss, B, Reis, A

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Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme von Chavarria-Soley, Gabriela, Sticht, Heinrich, Aklillu, Eleni, Ingelman-Sundberg, Magnus, Pasutto, Francesca, Reis, André, Rautenstrauss, Bernd

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Charcot-Marie-Tooth 1A: Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype von SEEMAN, P., MAZANEC, R., MARIKOVA, T., RAUTENSTRAUSS, B.

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Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations von LIEHR, T, GREHL, H, RAUTENSTRAUSS, B

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PMP22 Thr118Met is not a clinically relevant CMT1 marker von YOUNG, P, STÖGBAUER, F, VAN BROECKHOVEN, C, RINGELSTEIN, E. B, FUNKE, H, ELLER, B, DE JONGHE, P, LÖFGREN, A, TIMMERMAN, V, RAUTENSTRAUSS, B, OEXLE, K, GREHL, H, KUHLENBÄUMER, G

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Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent von Timmerman, V, Rautenstrauss, B, Reiter, L T, Koeuth, T, Löfgren, A, Liehr, T, Nelis, E, Bathke, K D, De Jonghe, P, Grehl, H, Martin, J J, Lupski, J R, Van Broeckhoven, C

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Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field von Nelis, E, Timmerman, V, De Jonghe, P, Van Broeckhoven, C, Rautenstrauss, B

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Regional Localization of the Human Epithelial Membrane Protein Genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3 von Liehr, T., Kuhlenbäumer, G., Wulf, P., Taylor, V., Suter, U., Van Broeckhoven, C., Lupski, J.R., Claussen, U., Rautenstrauss, B.

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Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception von Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan

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