Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
Kubisch, Christian, Stein, Valentin, Mortier, Wilhelm, Nöthen, Markus M, Betz, Regina C, Reis, André, Vorgerd, Matthias, Ramírez, Alfredo, Malin, Jean-Pierre, Ricker, Kenneth, Kasper, Dagmar, Jentsch, Thomas J, Torbergsen, Torberg, Propping, Peter, Schoser, Benedikt G. H, Lee, Young-Ae, Wienker, Thomas F
Published in Nature genetics (01.07.2001)
Published in Nature genetics (01.07.2001)
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Journal Article
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase
Schmidt, Carolin, Abicht, Angela, Krampfl, Klaus, Voss, Wolfgang, Stucka, Rolf, Mildner, Gina, Petrova, Sofia, Schara, Ulrike, Mortier, Wilhelm, Bufler, Johannes, Huebner, Angela, Lochmüller, Hanns
Published in Neuromuscular disorders : NMD (01.03.2003)
Published in Neuromuscular disorders : NMD (01.03.2003)
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A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome
Müller, Juliane S, Abicht, Angela, Christen, Hans-Jürgen, Stucka, Rolf, Schara, Ulrike, Mortier, Wilhelm, Huebner, Angela, Lochmüller, Hanns
Published in Neuromuscular disorders : NMD (01.11.2004)
Published in Neuromuscular disorders : NMD (01.11.2004)
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Journal Article
Mutation analysis in myophosphorylase deficiency (McArdle's disease)
Vorgerd, M, Kubisch, C, Burwinkel, B, Reichmann, H, Mortier, W, Tettenborn, B, Pongratz, D, Lindemuth, R, Tegenthoff, M, Malin, J P, Kilimann, M W
Published in Annals of neurology (01.03.1998)
Published in Annals of neurology (01.03.1998)
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Journal Article
Consequences of a novel caveolin-3 mutation in a large German family
Fischer, Dirk, Schroers, Anja, Blümcke, Ingmar, Urbach, Horst, Zerres, Klaus, Mortier, Wilhelm, Vorgerd, Matthias, Schröder, Rolf
Published in Annals of neurology (01.02.2003)
Published in Annals of neurology (01.02.2003)
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Journal Article
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation
SCHARA, Ulrike, TÜCKE, Jens, SCHRÖDER, Rolf, MORTIER, Wilhelm, NÜSSLEIN, Thomas, ROUAN, Fatima, PFENDNER, Ellen, ZILLIKENS, Detlef, BRUCKNER-TUDERMAN, Leena, UITTO, Jouni, WICHE, Gerhard
Published in European journal of pediatrics (01.04.2004)
Published in European journal of pediatrics (01.04.2004)
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Novel mutation in theRYR1gene (R2454C) in a patient with malignant hyperthermia
Gencik, Martin, Gencik, Alexandra, Mortier, Wilhelm, Epplen, J rg T.
Published in Human mutation (01.01.2000)
Published in Human mutation (01.01.2000)
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Journal Article
Rippling muscle disease in childhood
Schara, Ulrike, Vorgerd, Matthias, Popovic, Nikola, Schoser, Benedikt G H, Ricker, Kenneth, Mortier, Wilhelm
Published in Journal of child neurology (01.07.2002)
Published in Journal of child neurology (01.07.2002)
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Journal Article
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR
ARNING, Larissa, JAGIELLO, Peter, SCHARA, Ulrike, VORGERD, Matthias, DAHMEN, Norbert, GENCIKOVA, Alexandra, MORTIER, Wilhelm, EPPLEN, Jörg T, GENCIK, Martin
Published in Journal of neurology (2004)
Published in Journal of neurology (2004)
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Journal Article
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy : implications for current diagnostics and patient care
SCHARA, Ulrike, GENCIK, Martin, MORTIER, Johannes, LANGEN, Margarete, GENCIKOVA, Alexandra, EPPLEN, Jörg Thomas, MORTIER, Wilhelm
Published in European journal of pediatrics (01.07.2001)
Published in European journal of pediatrics (01.07.2001)
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Journal Article
Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia
Gencik, Martin, Gencik, Alexandra, Mortier, Wilhelm, Epplen, Jörg T.
Published in Human mutation (01.01.2000)
Published in Human mutation (01.01.2000)
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Journal Article
Effect of High-Dose Creatine Therapy on Symptoms of Exercise Intolerance in McArdle Disease: Double-blind, Placebo-Controlled Crossover Study
Vorgerd, Matthias, Zange, Jochen, Kley, Rudolf, Grehl, T, Hüsing, Anika, Jäger, Matthias, Müller, Klaus, Schröder, Rolf, Mortier, Wilhelm, Fabian, Klaus, Malin, Jean-Pierre, Luttmann, Alwin
Published in Archives of neurology (Chicago) (01.01.2002)
Published in Archives of neurology (Chicago) (01.01.2002)
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Journal Article
Lymphocyte capping in muscular dystrophies
Bartram, Claus-Rainer, Serwinski, Jan, Reinhardt, Dietrich, Mortier, Wilhelm
Published in Brain & development (Tokyo. 1979) (1982)
Published in Brain & development (Tokyo. 1979) (1982)
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