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Results: 1-10 |
Results: 10
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle inrippling muscle disease
Authors: Betz, RC Schoser, BGH Kasper, D Ricker, K Ramirez, A Stein, V Torbergsen, T Lee, YA Nothen, MM Wienker, TF Malin, JP Propping, P Reis, A Mortier, W Jentsch, TJ Vorgerd, M Kubisch, C
Citation: Rc. Betz et al., Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle inrippling muscle disease, NAT GENET, 28(3), 2001, pp. 218-219
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care
Authors: Schara, U Gencik, M Mortier, J Langen, M Gencikova, A Epplen, JT Mortier, W
Citation: U. Schara et al., Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care, EUR J PED, 160(7), 2001, pp. 452-453
Isolated loss of gamma-sarcoglycan: Diagnostic implications in autosomal recessive limb-girdle muscular dystrophies
Authors: Vorgerd, M Gencik, M Mortier, J Epplen, JT Malin, JP Mortier, W
Citation: M. Vorgerd et al., Isolated loss of gamma-sarcoglycan: Diagnostic implications in autosomal recessive limb-girdle muscular dystrophies, MUSCLE NERV, 24(3), 2001, pp. 421-424
Type I muscle-fiber atrophy. Guide for the diagnosis of myotonic muscular dystrophy with an unusual phenotype
Authors: Schara, U Hoffmann, U Vorgerd, M Mortier, W
Citation: U. Schara et al., Type I muscle-fiber atrophy. Guide for the diagnosis of myotonic muscular dystrophy with an unusual phenotype, MONATS KIND, 148(7), 2000, pp. 674-677
Creatine therapy in myophosphorylase deficiency (McArdle disease) - A placebo-controlled crossover trial
Authors: Vorgerd, M Grehl, T Jager, M Muller, K Freitag, G Patzold, T Bruns, N Fabian, K Tegenthoff, M Mortier, W Luttmann, A Zange, J Malin, JP
Citation: M. Vorgerd et al., Creatine therapy in myophosphorylase deficiency (McArdle disease) - A placebo-controlled crossover trial, ARCH NEUROL, 57(7), 2000, pp. 956-963
Severe anaesthetic incidents in patients and families with Duchenne and Becker type muscular dystrophy
Authors: Breucking, E Reimnitz, P Schara, U Mortier, W
Citation: E. Breucking et al., Severe anaesthetic incidents in patients and families with Duchenne and Becker type muscular dystrophy, ANAESTHESIS, 49(3), 2000, pp. 187-195
Diagnosis of neuromuscular diseases: advances through molecular genetic techniques
Authors: Gencik, M Epplen, JT Mortier, W
Citation: M. Gencik et al., Diagnosis of neuromuscular diseases: advances through molecular genetic techniques, DEUT MED WO, 124(4), 1999, pp. 85-87
Short stature in Duchenne muscular dystrophy: a study of 34 patients
Authors: Nagel, BHP Mortier, W Elmlinger, M Wollmann, HA Schmitt, K Ranke, MB
Citation: Bhp. Nagel et al., Short stature in Duchenne muscular dystrophy: a study of 34 patients, ACT PAEDIAT, 88(1), 1999, pp. 62-65
A common mutation (epsilon 1267delG) in congenital myasthenic patients of Gypsy ethnic origin
Authors: Abicht, A Stucka, R Karcagi, V Herczegfalvi, A Horvath, R Mortier, W Schara, U Ramaekers, V Jost, W Brunner, J Janssen, G Seidel, U Schlotter, B Muller-Felber, W Pongratz, D Rudel, R Lochmuller, H
Citation: A. Abicht et al., A common mutation (epsilon 1267delG) in congenital myasthenic patients of Gypsy ethnic origin, NEUROLOGY, 53(7), 1999, pp. 1564-1569
Phenotypic variability in rippling muscle disease
Authors: Vorgerd, M Bolz, H Patzold, T Kubisch, C Malin, JP Mortier, W
Citation: M. Vorgerd et al., Phenotypic variability in rippling muscle disease, NEUROLOGY, 52(7), 1999, pp. 1453-1459
Risultati: 1-10 |