Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms von Rusticeanu, M., Zimmer, V., Schleithoff, L., Wonney, K., Viera, J., Zimmer, A., Hübschen, U., Bohle, R.M., Grünhage, F., Lammert, F.

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A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions von Lerche, H., Biervert, C., Alekov, A. K., Schleithoff, L., Lindner, M., Klingler, W., Bretschneider, F., Mitrovic, N., Jurkat-Rott, K., Bode, H., Lehmann-Horn, F., Steinlein, O. K.

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Gene symbol: SERPINC1. Disease: Antithrombin deficiency. Accession #Hd0514 von Schleithoff, L, Seelig, H P

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Gene symbol: PRSS1. Disease: Pancreatitis, hereditary. Accession #Hm0542 von Schleithoff, L, Seelig, H P

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1392 NOVEL CERULOPLASMIN MUTATION CAUSING ACERULOPLASMINEMIA WITH SEVERE HEPATIC IRON OVERLOAD AND EARLY ONSET OF DIABETES MELLITUS BUT WITHOUT NEUROLOGICAL SYMPTOMS von Rusticeanu, M, Schleithoff, L, Zimmer, V, Hübschen, U, Grünhage, F, Lammert, F

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Gene symbol: TNFSF5. Disease: Hyper-IgM syndrome. Accession #Hm0539 von Schleithoff, L S, Seelig, H P

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Screening of the Ryanodine Receptor Gene in 105 Malignant Hyperthermia Families: Novel Mutations and Concordance with the in Vitro Contracture Test von Brandt, Annebill, Schleithoff, Lothar, Jurkat-Rott, Karin, Klingler, Werner, Baur, Christoph, Lehmann-Horn, Frank

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Bafilomycin A1 is a potent inhibitor of urine formation by Malpighian tubules of Drosophila hydei: is a vacuolar-type ATPase involved in ion and fluid secretion von Bertram, G, Schleithoff, L, Zimmermann, P, Wessing, A

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Intracellular signaling of the Ufo/Axl receptor tyrosine kinase is mediated mainly by a multi-substrate docking-site von BRAUNGER, J, SCHLEITHOFF, L, SCHULZ, A. S, KESSLER, H, LAMMERS, R, ULLRICH, A, BARTRAM, C. R, JANSSEN, J. W. G

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Functional Characterization of a Distinct Ryanodine Receptor Mutation in Human Malignant Hyperthermia-susceptible Muscle von Richter, M, Schleithoff, L, Deufel, T, Lehmann-Horn, F, Herrmann-Frank, A

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Transient weakness and compound muscle action potential decrement in myotonia congenita von Deymeer, Feza, Çakirkaya, Sevinnç, Serdaroğlu, Piraye, Schleithoff, Lothar, Lehmann-Horn, Frank, Rüdel, Reinhardt, Özdemir, Coşkun

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Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2) von Schleithoff, L, Mehrke, G, Reutlinger, B, Lehmann-Horn, F

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An oncogenic fusion product of the phosphatidylinositol 3-kinase p85β subunit and HUMORF8, a putative deubiquitinating enzyme von JANSSEN, J. W. G, SCHLEITHOFF, L, BARTRAM, C. R, SCHULZ, A. S

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Genomic Structure and Functional Expression of a Human α2/δ Calcium Channel Subunit Gene (CACNA2) von Schleithoff, Lothar, Mehrke, Gerhard, Reutlinger, Bettina, Lehmann-Horn, Frank

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The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology, and channel pathology von Wagner, Susanne, Deymeer, Feza, Kürz, Lothar L., Benz, Sandra, Schleithoff, Lothar, Lehmann-Horn, Frank, Serdaroğlu, Piraye, Özdemir, Coskun, Rüdel, Reinhardt

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Loss of Wild-Type MEN1 Gene Expression in Multiple Endocrine Neoplasia Type 1-Associated Parathyroid Adenoma von LUDWIG, LEOPOLD, SCHLEITHOFF, LOTHAR, KESSLER, HEIDI, WAGNER, PETER K., BOEHM, BERNHARD O., KARGES, WOLFRAM

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An oncogenic fusion product of the phosphatidylinositol 3-kinase p85beta subunit and HUMORF8, a putative deubiquitinating enzyme von Janssen, J W, Schleithoff, L, Bartram, C R, Schulz, A S

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A Pvull-polymorphism within the AXL gene on chromosome 19q13.1 von Linz, Ute, Schleithoff, Lothar, Janssen, Johannes W.G., Bartram, Claus R., MüIIer, C.R.

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Bafilomycin A sub(1) is a potent inhibitor of urine formation by Malpighian tubules of Drosophila hydei): Is a vacuolar-type ATPase involved in ion and fluid secretion? von Bertram, G, Schleithoff, L, Zimmermann, P, Wessing, A

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Bafilomycin A 1 is a potent inhibitor of urine formation by Malpighian tubules of Drosophila hydei: Is a vacuolar-type ATPase involved in ion and fluid secretion? von Bertram, G., Schleithoff, L., Zimmermann, P., Wessing, A.

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