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Results: 1-19 |
Results: 19
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
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
Mitochondrial impairment of human muscle in Friedreich ataxia in vivo
Authors: Vorgerd, M Schols, L Hardt, C Ristow, M Epplen, JT Zange, J
Citation: M. Vorgerd et al., Mitochondrial impairment of human muscle in Friedreich ataxia in vivo, NEUROMUSC D, 10(6), 2000, pp. 430-435
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Authors: Bonne, G Mercuri, E Muchir, A Urtizberea, A Becane, HM Recan, D Merlini, L Wehnert, M Boor, R Reuner, U Vorgerd, M Wicklein, EM Eymard, B Duboc, D Penisson-Besnier, I Cuisset, JM Ferrer, X Desguerre, I Lacombe, D Bushby, K Pollitt, C Toniolo, D Fardeau, M Schwartz, K Muntoni, F
Citation: G. Bonne et al., Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, ANN NEUROL, 48(2), 2000, pp. 170-180
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease
Authors: Ziemssen, F Sindern, E Schroder, JM Shin, YS Zange, JH Kilimann, MW Malin, JP Vorgerd, M
Citation: F. Ziemssen et al., Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease, ANN NEUROL, 47(4), 2000, pp. 536-540
Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency
Authors: Buhrer, C van Landeghem, F Bruck, W Felderhoff-Muser, U Vorgerd, M Obladen, M
Citation: C. Buhrer et al., Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency, NEUROPEDIAT, 31(2), 2000, pp. 104-106
Oxidative stress in patients with Friedreich ataxia
Authors: Schulz, JB Dehmer, T Schols, L Mende, H Hardt, C Vorgerd, M Burk, K Matson, W Dichgan, J Beal, MF Bogdanov, MB
Citation: Jb. Schulz et al., Oxidative stress in patients with Friedreich ataxia, NEUROLOGY, 55(11), 2000, pp. 1719-1721
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
Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans
Authors: Hebinck, J Hardt, C Schols, L Vorgerd, M Briedigkeit, L Kahn, CR Ristow, M
Citation: J. Hebinck et al., Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans, DIABETES, 49(9), 2000, pp. 1604-1607
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
Insulin resistance and impaired insulin secretion due to phosphofructo-1-kinase-deficiency in humans
Authors: Ristow, M Vorgerd, M Mohlig, M Schatz, H Pfeiffer, A
Citation: M. Ristow et al., Insulin resistance and impaired insulin secretion due to phosphofructo-1-kinase-deficiency in humans, J MOL MED-J, 77(1), 1999, pp. 96-103
Polymyositis of the skeletal muscles as an extraintestinal complication inquiescent ulcerative colitis
Authors: Voigt, E Griga, T Tromm, A Henschel, MG Vorgerd, M May, B
Citation: E. Voigt et al., Polymyositis of the skeletal muscles as an extraintestinal complication inquiescent ulcerative colitis, INT J COL R, 14(6), 1999, pp. 304-307
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
Adult polyglucosan body disease. Report of a case with predominant involvement of the central and peripheral nervous system and branching enzyme deficiency in leukocytes
Authors: Sindern, E Patzold, T Vorgerd, M Shin, YS Podskarbi, T Schroder, JM Malin, JP
Citation: E. Sindern et al., Adult polyglucosan body disease. Report of a case with predominant involvement of the central and peripheral nervous system and branching enzyme deficiency in leukocytes, NERVENARZT, 70(8), 1999, pp. 745-749
Deficiency of phosphofructo-1-kinase/muscle subtype in humans is associated with impairment of insulin secretory oscillations
Authors: Ristow, M Carlqvist, H Hebinck, J Vorgerd, M Krone, W Pfeiffer, A Muller-Wieland, D Ostenson, CG
Citation: M. Ristow et al., Deficiency of phosphofructo-1-kinase/muscle subtype in humans is associated with impairment of insulin secretory oscillations, DIABETES, 48(8), 1999, pp. 1557-1561
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality
Authors: Burwinkel, B Kreuder, J Schweitzer, S Vorgerd, M Gempel, K Gerbitz, KD Kilimann, MW
Citation: B. Burwinkel et al., Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality, BIOC BIOP R, 261(2), 1999, pp. 484-487
Assessment of postexcitatory inhibition in patients with focal dystonia
Authors: Schwenkreis, P Vorgerd, M Malin, JP Tegenthoff, M
Citation: P. Schwenkreis et al., Assessment of postexcitatory inhibition in patients with focal dystonia, ACT NEUR SC, 100(4), 1999, pp. 260-264
Influence of amantadine on inhibitory phenomena of the motor cortex after TMS in patients with Parkinson's disease
Authors: Schwenkreis, P Tegenthoff, M Vorgerd, M Fenger, E Greulich, W Malin, JP
Citation: P. Schwenkreis et al., Influence of amantadine on inhibitory phenomena of the motor cortex after TMS in patients with Parkinson's disease, KLIN NEUROP, 29(4), 1998, pp. 314-320
Reduced intracortical facilitation in patients with cerebellar degeneration
Authors: Liepert, J Wessel, K Schwenkreis, P Trillenberg, P Otto, V Vorgerd, M Malin, JP Tegenthoff, M
Citation: J. Liepert et al., Reduced intracortical facilitation in patients with cerebellar degeneration, ACT NEUR SC, 98(5), 1998, pp. 318-323
Risultati: 1-19 |