検索結果 - Françoise Fougerousse
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Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families. 著者: Maria Rita Passos‐Bueno, Isabelle Richard, Mariz Vainzof, Françoise Fougerousse, J. Weissenbach, Odile Broux, Daniel Cohen, Jeanne Akiyama, Suely Kazue Nagahashi Marie, Alexandre Carvalho
出版事項 1993Artigo -
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Expression and Functional Characteristics of Calpain 3 Isoforms Generated through Tissue-Specific Transcriptional and Posttranscriptional Events 著者: Muriel Hérasse, Yasuko Ono, Françoise Fougerousse, Eiichi KIMURA, Daniel Stockholm, Cyriaque Beley, Didier Montarras, Christian Pinset, Hiroyuki Sorimachi, Koichi Suzuki, J. Beckmann, Isabelle Richard
出版事項 1999Artigo -
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Natural history of <scp>LGMD</scp>2A for delineating outcome measures in clinical trials 著者: Isabelle Richard, Jean‐Yves Hogrel, Daniel Stockholm, Christine Payan, Françoise Fougerousse, B. Eymard, Claude Mignard, Adolfo López de Munaín, Michel Fardeau, Jon Andoni Urtizberea
出版事項 2016Artigo -
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Series of Exon-Skipping Events in the Elastic Spring Region of Titin as the Structural Basis for Myofibrillar Elastic Diversity 著者: Alexandra Freiburg, K Trombitás, Wolfgang Hell, Olivier Cazorla, Françoise Fougerousse, Thomas Centner, Bernhard Kolmerer, Christian Witt, J. Beckmann, Carol C. Gregorio, Henk Granzier, Siegfried Labeit
出版事項 2000Artigo -
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A homeobox gene, <i>vax2</i> , controls the patterning of the eye dorsoventral axis 著者: Anna Maria Barbieri, Giuseppe Lupo, Alessandro Bulfone, Massimiliano Andreazzoli, Margherita Mariani, Françoise Fougerousse, G. Giacomo Consalez, Giuseppe Borsani, J. Beckmann, Giuseppina Barsacchi, Andrea Ballabio, Sandro Banfi
出版事項 1999Artigo -
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AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis 著者: Anna Buj‐Bello, Françoise Fougerousse, Yannick Schwab, Nadia Messaddeq, Danièle Spehner, Christopher R. Pierson, Muriel Durand, Christine Kretz, Olivier Danos, Anne‐Marie Douar, Alan H. Beggs, Patrick Schultz, Marie Montus, Patrice Denèfle, Jean‐Louis Mandel
出版事項 2008Artigo -
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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A 著者: Isabelle Richard, Odile Broux, Valéerie Allamand, Françoise Fougerousse, Nuchanard Chiannilkulchai, Nathalie Bourg, L. Brenguier, Catherine Devaud, Patricia Pasturaud, Carinne Roudaut, Dominique Hillaire, Maria-Rita Passos-Bueno, Mayana Zatz, Jay A. Tischfield, Michel Fardeau, Charles E. Jackson, Daniel Cohen, J. Beckmann
出版事項 1995Artigo
関連主題
Biology
Gene
Genetics
Cell biology
Biochemistry
Alternative splicing
Exon
Limb-girdle muscular dystrophy
Molecular biology
Muscular dystrophy
Mutation
Myocyte
Calpain
Enzyme
Exon skipping
Frameshift mutation
Gene isoform
Internal medicine
Medicine
Phenotype
RNA
RNA splicing
Sarcomere
Skeletal muscle
Titin
Adeno-associated virus
Anatomy
Axon
Axon guidance
Chromosome