Benedikt Schoser - Dissemin

Papers authored by Benedikt Schoser

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2012 Karla Blonsky, Darren Monckton, Bé Wieringa, Benedikt Schoser

, John W. Day, Baziel van Engelen, B. G. M. van Engelen

2010 Marigold therapeutic strategies for myotonic dystrophy.

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2011 Joachim Schessl, Sarah Feldkirchner, Christiana Kubny, Benedikt Schoser

Reducing Body Myopathy and Other FHL1-Related Muscular Disorders

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Karlie Jones, Bingwen Jin, Polina Iakova, Claudia Huichalaf, Partha Sarkar, Christiane Schneider-Gold, Benedikt Schoser

, Giovanni Meola, Ann Bin Shyu, Ann-Bin Shyu, Nikolai Timchenko, Lubov Timchenko

RNA Foci, CUGBP1, and ZNF9 Are the Primary Targets of the Mutant CUG and CCUG Repeats Expanded in Myotonic Dystrophies Type 1 and Type 2

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Ja Mayr, Fa Zimmermann, Rita Horváth, Hc Schneider, Benedikt Schoser

, Elke Holinski-Feder, Birgit Czermin, Peter Freisinger, Wolfgang Sperl

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

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This paper is made freely available by the publisher.

Ivana Poparic, Wolfgang Schreibmayer, Benedikt Schoser

, Gernot Desoye, Astrid Gorischek, Heidi Miedl, Sonja Hochmeister, Josepha Binder, Stefan Quasthoff, Klaus Wagner, Christian Windpassinger, Ernst Malle

Four and a Half LIM Protein 1C (FHL1C): A Binding Partner for Voltage-Gated Potassium Channel Kv1.5

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Velina Guergueltcheva, Js Müller, Marina Dusl, Jan Senderek, Anders Oldfors, Christopher Lindbergh, Susan Maxwell, Jaume Colomer, Cj Mallebrera, Andres Nascimento, Juan Jj Vilchez, Nuria Muelas, Janbernd Kirschner, Shahriar Nafissi, Ariana Kariminejad

and 22 other authors

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

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S. Wenninger, B. Schoser

Angeborene und endogene endokrine Myopathien

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Alexandra Pevzner, Benedikt Schoser

, Katja Peters, Nicoleta-Carmen Cosma, Andromachi Karakatsani, Berthold Schalke, Arthur Melms, Stephan Kröger

Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis

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Vilma-Lotta Lehtokari, Katarina Pelin, Agnes Herczegfalvi, Veronika Karcagi, Jean Pouget, Jerôme Franques, Jean François Pellissier, Dominique Figarella-Branger, Maja von der Hagen, Angela Huebner

, Benedikt Schoser

, Hanns Lochmüller, Carina Wallgren-Pettersson

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

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B. Udd, G. Meola, R. Krahe, D. G. Wansink, G. Bassez, W. Kress, B. Schoser

, R. Moxley

Myotonic dystrophy type 2 (DM2) and related disorders

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B. Schoser

, S. Zierz

Neuromuskuläre Erkrankungen

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Charlotte Fugier, Arnaud F. Klein, Caroline Hammer, Stéphane Vassilopoulos, Ylva Ivarsson, Anne Toussaint, Valérie Tosch, Yosuke Kokunai, Pierre de la Grange, Alban Vignaud, Rie Tsuburaya, Arnaud Ferry, Doulaye Dembele

, Nadia Messaddeq, Virginie Francois and 20 other authors

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

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Peter Reilich, Rita Horvath, Sabine Krause, Nicolai Schramm, Doug M. Turnbull, Michael Trenell, Kieren G. Hollingsworth, Grainne S. Gorman, Volkmar H. Hans, Jens Reimann, Andrée MacMillan, Lesley Turner, Annette Schollen, Gregor Witte

, Birgit Czermin and 4 other authors

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

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Peter Reilich, Sabine Krause, Nicolai Schramm, Ursula Klutzny, Stefanie Bulst, Barbara Zehetmayer, Peter Schneiderat, Maggie C. Walter, Benedikt Schoser

, Hanns Lochmüller

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)

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Jan Senderek, Js Müller, Marina Dusl, Tm Strom, Velina Guergueltcheva, Irmgard Diepolder, Sh Laval, Susan Maxwell, Judy Cossins, Sabine Krause, Nuria Muelas, Juan Jj Vilchez, Jaume Colomer, Cj Mallebrera, Andres Nascimento and 24 other authors

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

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2010 Tao Zu, Brian Gibbens, Noelle S. Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D. Stone, Jamie Margolis, Mark Peterson, Todd W. Markowski, Melissa A. C. Ingram, Zhenhong Nan, Colleen Forster, Walter C. Low, Benedikt Schoser

, Nikunj V. Somia and 7 other authors

Non-ATG–initiated translation directed by microsatellite expansions

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J. Schessl, M. Schuberth, P. Reilich, P. Schneiderat, N. Strigl Pill, M. C. Walter, B. Schlotter Weigel, B. Schoser

Long-term efficiency of intravenously administered immunoglobulin in anti-Yo syndrome with paraneoplastic cerebellar degeneration

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Christoph S. Clemen, Karthikeyan Tangavelou, Karl-Heinz Strucksberg, Steffen Just, Linda Gaertner, Hanna Regus-Leidig, Maria Stumpf, Jens Reimann, Roland Coras, Reginald O. Morgan, Maria-Pilar Fernandez, Andreas Hofmann

, Stefan Müller, Benedikt Schoser

, Franz-Georg Hanisch and 5 other authors

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases

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Claudia Huichalaf, Keiko Sakai, Bingwen Jin, Karlie Jones, Guo-Li Wang, Benedikt Schoser

, Christiane Schneider-Gold, Partha Sarkar, Olivia M. Pereira-Smith, Nikolai Timchenko, Lubov Timchenko

Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells

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Benedikt Schoser

, Lubov Timchenko

Myotonic Dystrophies 1 and 2: Complex Diseases with Complex Mechanisms

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Papers authored by Benedikt Schoser