Telethonin protein expression in neuromuscular disorders.
暂无分享,去创建一个
M. Passos-Bueno | M. Zatz | A. Beggs | G. Faulkner | E. Zanoteli | O. Carpén | A. Ribeiro | M. Vainzof | O. Suzuki | A. Tsanaclis | H. Silva | E. S. Moreira | Georgio Valle | J. Gurgel-Gianneti
[1] K. Campbell,et al. Molecular basis of muscular dystrophies , 2000, Muscle & nerve.
[2] A A Schäffer,et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. , 2000, American journal of human genetics.
[3] M. Passos-Bueno,et al. Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes , 2000, Current opinion in neurology.
[4] J. Gilbert,et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. , 2000, Human molecular genetics.
[5] E. Mercuri,et al. Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene , 2000, Annals of neurology.
[6] M. Hamida,et al. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3 , 2000, Neuromuscular Disorders.
[7] E. McNally,et al. Sarcoglycans in muscular dystrophy , 2000, Microscopy research and technique.
[8] C. Reggiani,et al. Human skeletal muscle fibres: molecular and functional diversity. , 2000, Progress in biophysics and molecular biology.
[9] G. Valle,et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin , 2000, Nature Genetics.
[10] K. Pelin,et al. Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy , 1999, Nature Genetics.
[11] J. Kere,et al. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. , 1999, Human molecular genetics.
[12] J. Beckmann,et al. Calpainopathy-a survey of mutations and polymorphisms. , 1999, American journal of human genetics.
[13] K. Bushby,et al. Dysferlin is a plasma membrane protein and is expressed early in human development. , 1999, Human molecular genetics.
[14] P. Loughna,et al. The novel sarcomeric protein telethonin exhibits developmental and functional regulation. , 1999, Biochemical and biophysical research communications.
[15] Siegfried Labeit,et al. The NH2 Terminus of Titin Spans the Z-Disc: Its Interaction with a Novel 19-kD Ligand (T-cap) Is Required for Sarcomeric Integrity , 1998, The Journal of cell biology.
[16] Paul Young,et al. Structural basis for activation of the titin kinase domain during myofibrillogenesis , 1998, Nature.
[17] J. Beckmann,et al. Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. , 1998, The American journal of pathology.
[18] Pieter J. de Jong,et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy , 1998, Nature Genetics.
[19] J. Beckmann,et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B , 1998, Nature Genetics.
[20] C. Greenberg,et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. , 1998, American journal of human genetics.
[21] M. Gautel,et al. Two immunoglobulin‐like domains of the Z‐disc portion of titin interact in a conformation‐dependent way with telethonin , 1998, FEBS letters.
[22] L. Kunkel,et al. Caveolin-3 in muscular dystrophy. , 1998, Human molecular genetics.
[23] F. Zara,et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy , 1998, Nature Genetics.
[24] G. Lanfranchi,et al. Telethonin, a novel sarcomeric protein of heart and skeletal muscle , 1997, FEBS letters.
[25] M. Passos-Bueno,et al. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. , 1997, American journal of human genetics.
[26] L. Kunkel,et al. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. , 1996, Human molecular genetics.
[27] L. Kunkel,et al. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. , 1996, American journal of human genetics.
[28] M. Passos-Bueno,et al. Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene , 1996, Nature Genetics.
[29] G. Viglietto,et al. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. , 1996, Human molecular genetics.
[30] E. Sekul. Muscle Disorders in Childhood, 2nd Ed. , 1996, Neurology.
[31] M. Passos-Bueno,et al. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. , 1996, Human molecular genetics.
[32] K. Bushby,et al. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. , 1996, Journal of medical genetics.
[33] L. Kunkel,et al. Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy , 1995, Science.
[34] R. Worton. Muscular Dystrophies—Diseases of the Dystrophin-Glycoprotein Complex , 1995, Science.
[35] L. Kunkel,et al. β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex , 1995, Nature Genetics.
[36] J. Beckmann,et al. β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12 , 1995, Nature Genetics.
[37] Isabelle Richard,et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A , 1995, Cell.
[38] K. Bushby. Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limbgirdle dystrophies , 1995, Neuromuscular Disorders.
[39] J. Beckmann,et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy , 1994, Cell.
[40] K. Bushby,et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. , 1994, Human molecular genetics.
[41] J. Beckmann,et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. , 1993, Human molecular genetics.
[42] K. Campbell,et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy , 1992, Nature.
[43] L. Kunkel,et al. Cloning and Characterization of Two Human Skeletal Muscle 0-actinin Genes Located on Chromosomes 1 and 11* , 2022 .
[44] M. Vincent,et al. Dystrophin: a sensitive and reliable immunochemical assay in tissue and cell culture homogenates. , 1991 .
[45] M. Passos-Bueno,et al. Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein , 1991, Journal of the Neurological Sciences.
[46] E. Ozawa,et al. Glycoprotein complex anchoring dystrophin to sarcolemma. , 1990, Journal of biochemistry.
[47] J. Ervasti,et al. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle , 1990, Nature.
[48] N. Laing,et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. , 1995, Nature genetics.
[49] E. Haan,et al. A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy , 1995, Nature Genetics.
[50] J. Beckmann,et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. , 1991, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.
[51] V. Dubowitz. Muscle disorders in childhood. , 1977, Israel journal of medical sciences.
[52] A. J. Clifford,et al. BIOCHIMICA ET BIOPHYSICA ACTA , 2022 .