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Results: 1-17 |
Results: 17
Nebulin expression in patients with nemaline myopathy
Authors: Gurgel-Giannetti, J Reed, U Bang, ML Pelin, K Donner, K Marie, SK Carvalho, M Fireman, MAT Zanoteli, E Oliveira, ASB Zatz, M Wallgren-Pettersson, C Labeit, S Vainzof, M
Citation: J. Gurgel-giannetti et al., Nebulin expression in patients with nemaline myopathy, NEUROMUSC D, 11(2), 2001, pp. 154-162
Dysferlin protein analysis in limb-girdle muscular dystrophies
Authors: Vainzof, M Anderson, LVB McNally, EM Davis, DB Faulkner, G Valle, G Moreira, ES Pavanello, RCM Passos-Bueno, MR Zatz, M
Citation: M. Vainzof et al., Dysferlin protein analysis in limb-girdle muscular dystrophies, J MOL NEURO, 17(1), 2001, pp. 71-80
Mutations in the caveolin-3 gene: When are they pathogenic?
Authors: de Paula, F Vainzof, M Bernardino, ALF McNally, E Kunkel, LM Zatz, M
Citation: F. De Paula et al., Mutations in the caveolin-3 gene: When are they pathogenic?, AM J MED G, 99(4), 2001, pp. 303-307
Characterization of human skeletal muscle Ankrd2
Authors: Pallavicini, A Kojic, S Bean, C Vainzof, M Salamon, M Ievolella, C Bortoletto, G Pacchioni, B Zatz, M Lanfranchi, G Faulkner, G Valle, G
Citation: A. Pallavicini et al., Characterization of human skeletal muscle Ankrd2, BIOC BIOP R, 285(2), 2001, pp. 378-386
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes
Authors: Zatz, M Vainzof, M Passos-Bueno, MR
Citation: M. Zatz et al., Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes, CURR OP NEU, 13(5), 2000, pp. 511-517
Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?
Authors: Vainzof, M Muniz, VP Tsanaclis, AMC Silva, HCA Rusticci, MS
Citation: M. Vainzof et al., Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?, GENET TEST, 4(4), 2000, pp. 383-386
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
Authors: Moreira, ES Wiltshire, TJ Faulkner, G Nilforoushan, A Vainzof, M Suzuki, OT Valle, G Reeves, R Zatz, M Passos-Bueno, MR Jenne, DE
Citation: Es. Moreira et al., Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin, NAT GENET, 24(2), 2000, pp. 163-166
Heterogeneity of classic congenital muscular dystrophy with involvement ofthe central nervous system: Report of five atypical cases
Authors: Reed, UC Marie, SKN Vainzof, M Gobbo, LF Gurgel, JEP Carvalho, MS Resende, MBD Espindola, AA Zatz, M Diament, A
Citation: Uc. Reed et al., Heterogeneity of classic congenital muscular dystrophy with involvement ofthe central nervous system: Report of five atypical cases, J CHILD NEU, 15(3), 2000, pp. 172-178
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin
Authors: Rocco, P Vainzof, M Froehner, SC Peters, MF Marie, SKN Passos-Bueno, MR Zatz, M
Citation: P. Rocco et al., Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin, AM J MED G, 92(2), 2000, pp. 122-127
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family
Authors: Vainzof, M Moreira, ES Canovas, M Anderson, LVB Pavanello, RCM Passos-Bueno, MR Zatz, M
Citation: M. Vainzof et al., Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family, MUSCLE NERV, 23(6), 2000, pp. 984-988
Post exercise myalgias as a form of dystrophynopathy. Case report.
Authors: Kleinsteuber, K Rocco, P Herrera, L Vainzof, M Birke, ME Yanez, M Flandes, A Zatz, M Carvallo, PD Avaria, MD
Citation: K. Kleinsteuber et al., Post exercise myalgias as a form of dystrophynopathy. Case report., REV MED CHI, 128(7), 2000, pp. 772-777
Serum creatine kinase in progressive muscular dystrophies
Authors: Zatz, M Vainzof, M Passos-Bueno, MR
Citation: M. Zatz et al., Serum creatine kinase in progressive muscular dystrophies, METH MOL M, 43, 2000, pp. 31-49
Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex
Authors: Vainzof, M Moreira, ES Ferraz, G Passos-Bueno, MR Marie, SK Zatz, M
Citation: M. Vainzof et al., Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex, EUR J HUM G, 7(2), 1999, pp. 251-254
Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation
Authors: Reed, UC Tsanaclis, AMC Vainzof, M Marie, SK Carvalho, MS Roizenblatt, J Pedreira, CC Diament, A Levy, JA
Citation: Uc. Reed et al., Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation, BRAIN DEVEL, 21(4), 1999, pp. 274-278
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G
Authors: Passos-Bueno, MR Vainzof, M Moreira, ES Zatz, M
Citation: Mr. Passos-bueno et al., Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G, AM J MED G, 82(5), 1999, pp. 392-398
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
Authors: Vainzof, M Passos-Bueno, MR Pavanello, RCM Marie, SK Oliveira, ASB Zatz, M
Citation: M. Vainzof et al., Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population, J NEUR SCI, 164(1), 1999, pp. 44-49
Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers
Authors: Sumita, DR Vainzof, M Campiotto, S Cerqueira, AM Canovas, M Otto, PA Passos-Bueno, MR Zatz, M
Citation: Dr. Sumita et al., Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers, AM J MED G, 80(4), 1998, pp. 356-361
Risultati: 1-17 |