Tauroursodeoxycholic acid reduces endoplasmic reticulum stress, trypsin activation, and acinar cell apoptosis while increasing secretion in rat pancreatic acini von Malo, A, Krüger, B, Seyhun, E, Schäfer, C, Hoffmann, R T, Göke, B, Kubisch, C H

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New challenges for informed consent through whole genome array testing von Netzer, C, Klein, C, Kohlhase, J, Kubisch, C

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Radiofrequency ablation after selective internal radiation therapy with Yttrium90 microspheres in metastatic liver disease—Is it feasible? von Hoffmann, R.T, Jakobs, T.F, Kubisch, C.H, Stemmler, H.J, Trumm, C, Tatsch, K, Helmberger, T.K, Reiser, M.F

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Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations von Brenner, D, Rosenbohm, A, Yilmaz, R, Müller, K, Grehl, T, Petri, S, Meyer, T, Grosskreutz, J, Weydt, P, Ruf, W, Neuwirth, C, Weber, M, Pinto, S, Claeys, Kristl, Schrank, B, Jordan, B, Knehr, A, Günther, K, Hübers, A, Zeller, D, Kübisch, C, Jablonka, J, Sendtner, M, Klopstock, T, de Carvalho, M, Sperfeld, A, Borck, G, Volk, A, Dorst, J, Weis, Joachim, Otto, M, Schuster, J, Del Treici, K, Braak, H, Danzer, K, Freischmidt, A, Meitinger, T, Ludolph, A, Andersen, P, Weishaupt, J, German ALS network MND-NET

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A Potassium Channel Mutation in Neonatal Human Epilepsy von Biervert, Christian, Schroeder, Björn C., Kubisch, Christian, Berkovic, Samuel F., Propping, Peter, Jentsch, Thomas J., Steinlein, Ortrud K.

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A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression von Wilch, E, Azaiez, H, Fisher, RA, Elfenbein, J, Murgia, A, Birkenhäger, R, Bolz, H, Da Silva-Costa, SM, Del Castillo, I, Haaf, T, Hoefsloot, L, Kremer, H, Kubisch, C, Le Marechal, C, Pandya, A, Sartorato, EL, Schneider, E, Van Camp, G, Wuyts, W, Smith, RJH, Friderici, KH

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Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature von Hedergott, A., Volk, A. E., Herkenrath, P., Thiele, H., Fricke, J., Altmüller, J., Nürnberg, P., Kubisch, C., Neugebauer, A.

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Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDS von FISCHER, Dirk, WALTER, Maggie C, URBACH, Horst, SCHRÖDER, Rolf, KESPER, Kristina, PETERSEN, Jens A, AURINO, Stefania, NIGRO, Vincenzo, KUBISCH, Christian, MEINDL, Thomas, LOCHMÜLLER, Hanns, WILHELM, Kai

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V42. De novo mutations in the FUS gene are a frequent cause of sporadic ALS in very young patients von Hübers, A, Volk, A, Just, W, Rosenbohm, A, Bierbaumer, N, Kathrin, M, Nicolai, M, Ingrid, G, Josef, H, Janine, A, Holger, T, Nürnberg, P, Weishaupt, J.H, Kubisch, C, Ludolph, A.C

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High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel von Borck, G, Rainshtein, L, Hellman-Aharony, S, Volk, AE, Friedrich, K, Taub, E, Magal, N, Kanaan, M, Kubisch, C, Shohat, M, Basel-Vanagaite, L

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Pathophysiological Mechanisms of Dominant and Recessive KvLQT1 K+ Channel Mutations Found in Inherited Cardiac Arrhythmias von Wollnik, Bernd, Schroeder, Björn C., Kubisch, Christian, Esperer, Hans D., Wieacker, Peter, Jentsch, Thomas J.

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KCNQ5, a Novel Potassium Channel Broadly Expressed in Brain, Mediates M-type Currents von Schroeder, Björn C., Hechenberger, Mirko, Weinreich, Frank, Kubisch, Christian, Jentsch, Thomas J.

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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease von Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J. A., Watson, Hunna J., Liu, Zijing, Brueggeman, Leo, Breen, Gerome, Bulik, Cynthia M., Arenas, Ernest, Hjerling-Leffler, Jens, Sullivan, Patrick F.

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KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness von Kubisch, Christian, Schroeder, Björn C, Friedrich, Thomas, Lütjohann, Björn, El-Amraoui, Aziz, Marlin, Sandrine, Petit, Christine, Jentsch, Thomas J

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ClC-1 Chloride Channel Mutations in Myotonia Congenita: Variable Penetrance of Mutations Shifting the Voltage Dependence von Kubisch, Christian, Schmidt-Rose, Thomas, Fontaine, Bertrand, Bretag, Allan H., Jentsch, Thomas J.

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Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: A cross-sectional study von Uhlenbusch, N., Mund, M., Rillig, F., Weiler-Normann, C., Herget, T., Kubisch, C., Löwe, B., Schramm, C.

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A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation von VORGERD, M, RICKER, K, ZIEMSSEN, F, KRESS, W, GOEBEL, H. H, NIX, W. A, KUBISCH, C, SCHOSER, B. G. H, MORTIER, W

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Genetic Association Study of Endothelin-1 and Its Receptors EDNRA and EDNRB in Migraine with Aura von Tikka-Kleemola, P, Kaunisto, MA, Hämäläinen, E, Todt, U, Göbel, H, Kaprio, J, Kubisch, C, Färkkilä, M, Palotie, A, Wessman, M, Kallela, M

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Werner syndrome. A prototypical form of segmental progeria. von Lessel, D, Oshima, J, Kubisch, C

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Automatic Transfer Function Specification for Visual Emphasis of Coronary Artery Plaque von Glaßer, S., Oeltze, S., Hennemuth, A., Kubisch, C., Mahnken, A., Wilhelmsen, S., Preim, B.

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