Characteristic MRI and funduscopic findings help diagnose ARSACS outside Quebec von GERWIG, M, KRÜGER, S, KREUZ, F. R, KREIS, S, GIZEWSKI, E. R, TIMMANN, D

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High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia von BEETZ, C, NYGREN, A. O. H, OTTO, S, SCHÜLE, R, SCHÖLS, L, SPERFELD, A.-D, WITTE, O. W, DEUFEL, T, SCHICKEL, J, AUER-GRUMBACH, M, BÜRK, K, HEIDE, G, KASSUBEK, J, KLIMPE, S, KLOPSTOCK, T, KREUZ, F

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Clinical details and genetics of recessive ataxias von Zühlke, C, Kreuz, F, Bürk, K

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Early age of onset in fatal familial insomnia: Two novel cases and review of the literature von HARDER, A, GREGOR, A, KUHLMANN, T, BRAAS, R, HAHNE, H. H, JENDROSKA, K, WIRTH, T, KREUZ, F, SCHULZ-SCHAEFFER, W. J, WINDL, O, PLOTKIN, M, AMTHAUER, H, NEUKIRCH, K, KRETZSCHMAR, H. A

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The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia von BIT-AVRAGIM, Nana, PERROT, Andreas, OSTERZIEL, Karl Josef, SCHÖLS, Ludger, HARDT, Cornelia, KREUZ, Friedmar R, ZÜHLKE, Christine, BUBEL, Stefanie, LACCONE, Franco, VOGEL, Hans-Peter, DIETZ, Rainer

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Neonatal Seizures in Two Sisters with Incontinentia Pigmenti von Pörksen, G., Pfeiffer, C., Hahn, G., Poppe, M., Friebel, D., Kreuz, F., Gahr, M.

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Spinocerebellar ataxia type 7: frequency of CAG repeat length in a German family von Kreuz, F R, Grünewald, T, Müller, A, Reichmann, H, Zühlke, C

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Another case of achalasia-microcephaly syndrome von Kreuz, F R, Nolte-Buchholtz, S, Fackler, F, Behrens, R

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Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias von DALSKI, Andreas, ATICI, Jassemien, KREUZ, Friedmar R, HELLENBROICH, Yorck, SCHWINGER, Eberhard, ZÜHLKE, Christine

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HNPCC-associated small bowel cancer: Clinical and molecular characteristics von Schulmann, Karsten, Brasch, Frank E., Kunstmann, Erdmute, Engel, Christoph, Pagenstecher, Constanze, Vogelsang, Holger, Krüger, Stefan, Vogel, Tilman, Knaebel, Hanns-Peter, Rüschoff, Josef, Hahn, Stephan A., Knebel-Doeberitz, Magnus V., Moeslein, Gabriela, Meltzer, Stephen J., Schackert, Hans K., Tympner, Christiane, Mangold, Elisabeth, Schmiegel, Wolff

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The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease von METZGER, Silke, BAIUER, Peter, MELEGH, Bela, HAVASI, Victoria, BALIKO, Lazlo, WIECZOREK, Stefan, ARNING, Larissa, ZAREMBA, Jacek, SUIEK, Anna, HOFFMAN-ZACHARSKA, Dorota, BASAK, A. Nazli, ERSOY, Nagehan, TOMIUK, Juergen, ZIDOVSKA, Jana, KEBRDLOVA, Vera, PANDOLFO, Massimo, RIBAÏ, Pascale, KADASI, Ludovit, KVASNICOVA, Marta, WEBER, Bernhard H. F, KREUZ, Friedmar, DOSE, Matthias, STUHRMANN, Manfred, LACCONE, Franco, RIESS, Olaf, DIDONATO, Stefano, GELLERA, Cinzia, SOLIVERI, Paola, LANGE, Herwig W, WEIRICH-SCHWAIGER, Helga, WENNING, Gregor K

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Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes von TÜRKMEN, Seval, GILLESSEN-KAESBACH, Gabriele, ZSCHIESCHANG, Petra, GREIWE, Monika, MENNICKE, Kirsten, KREUZ, Friedmar R, DEHMEL, Harald J, RODECK, Burkhard, KUNZE, Jürgen, TINSCHERT, Sigrid, MUNDLOS, Stefan, HORN, Denise, MEINECKE, Peter, ALBRECHT, Beate, NEUMANN, Luitgard M, HESSE, Volker, PALANDUZ, Sükrü, BALG, Stefanie, MAJEWSKI, Frank, FUCHS, Sigrun

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Communicating BRCA1 and BRCA2 genetic test results von Gadzicki, Dorothea, Wingen, Luzie U, Teige, Birgitta, Horn, Denise, Bosse, Kristin, Kreuz, Friedmar, Goecke, Timm, Schäfer, Dieter, Voigtländer, Theda, Fischer, Barbara, Froster, Ursula, Welling, Brigitte, Debatin, Irmgard, Weber, Bernard H F, Schönbuchner, Ines, Nippert, Irmgard, Schlegelberger, Brigitte

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No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients von Steinke, Verena, Rahner, Nils, Morak, Monika, Keller, Gisela, Schackert, Hans K, Görgens, Heike, Schmiegel, Wolff, Royer-Pokora, Brigitte, Dietmaier, Wolfgang, Kloor, Matthias, Engel, Christoph, Propping, Peter, Aretz, Stefan

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Klinik und Genetik der rezessiven Ataxien von Zühlke, C., Kreuz, F., Bürk, K.

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Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression von PLASCHKE, Jens, KRÜGER, Stefan, JESKE, Birgit, THEISSIG, Franz, KREUZ, Friedmar R, PISTORIUS, Steffen, SAEGER, Hans D, IACCARINO, Ingram, MARRA, Giancarlo, SCHACKERT, Hans K

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Clinical details and genetics of recessive ataxias von Zühlke, C, Kreuz, F, Bürk, K

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Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia von Bunse, Michael, Bit-Avragim, Nana, Riefflin, Axel, Perrot, Andreas, Schmidt, Oliver, Kreuz, Friedmar R., Dietz, Rainer, Jung, Wulf-Ingo, Osterziel, Karl Josef

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Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression von Plaschke, J, Krüger, S, Jeske, B, Theissig, F, Kreuz, F R, Pistorius, S, Saeger, H D, Iaccarino, I, Marra, Giancarlo, Schackert, H K

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Morbus Coats in Verbindung mit anderen Erkrankungen von Muletarow, J., Paditz, E., Petersen, H., Kreuz, F.

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