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1
المؤلفون: Norbert Mücke, Michel Fardeau, Harald Bär, Aleksey Shatunov, Bertrand Goudeau, Hugo A. Katus, Sarah Wälde, Harald Herrmann, Janice L. Holton, Patrick Vicart, Charles Clarke, Monique Casteras-Simon, Y. Paul Goldberg, Bruno Eymard, Lev G. Goldfarb
المصدر: Human Mutation. 28:374-386
مصطلحات موضوعية: Adult, Male, DNA, Complementary, Molecular Sequence Data, macromolecular substances, Biology, medicine.disease_cause, Protein Structure, Secondary, Desmin, Dystrophin, Protein filament, Muscular Diseases, Genetics, medicine, Humans, Point Mutation, Intermediate Filament Protein, Myocyte, Amino Acid Sequence, Muscle, Skeletal, Cytoskeleton, Intermediate filament, Genetics (clinical), Mutation, Point mutation, alpha-Crystallin B Chain, Middle Aged, Molecular biology, Pedigree, Protein Structure, Tertiary, Mutagenesis, Site-Directed, Female, Cardiomyopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d601731323d66071bca3af4e42e316b6Test
https://doi.org/10.1002/humu.20459Test -
2
المؤلفون: Fernando Rodrigues-Lima, Sylvie Langlois, Patrick Vicart, Bertrand Goudeau, Monique Casteras-Simon, Patrick Nédellec, Ayush Dagvadorj, Lev G. Goldfarb, Emmanuelle Perret
المصدر: Human Mutation. 18:388-396
مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, Pathology, medicine.medical_specialty, Cardiomyopathy, Muscle weakness, macromolecular substances, Biology, medicine.disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, Myocyte, Desmin, medicine.symptom, Myopathy, Intermediate filament, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d20811dc7e400bcf354aa3b9d7c52899Test
https://doi.org/10.1002/humu.1210Test -
3
المؤلفون: Gunnar Sjöberg, Marianne de Visser, Marinos C. Dalakas, Lev G. Goldfarb, Patrick Vicart, Anna Kostareva, Pascal Laforêt, Monique Casteras-Simon, Dirk Fischer, Xavier Ferrer, Bertrand Goudeau, Nyamkhishig Sambuughin, Fernando Rodrigues-Lima, Thomas Sejersen, Françoise Chapon
المساهمون: Neurology
المصدر: Human mutation, 27(9), 906-913. Wiley-Liss Inc.
مصطلحات موضوعية: Adult, Male, Models, Molecular, Skeletal muscle weakness, DNA Mutational Analysis, Molecular Sequence Data, Cardiomyopathy, Mutation, Missense, Alpha (ethology), macromolecular substances, Biology, Protein Structure, Secondary, Cell Line, Desmin, Muscular Diseases, Genetics, medicine, Humans, Amino Acid Sequence, Child, Gene, Genetics (clinical), Aged, Desmin filament, Anatomy, Middle Aged, medicine.disease, Phenotype, Molecular biology, Immunohistochemistry, Child, Preschool, Female, Sequence Alignment, Sporadic disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1667ef8827b1dd4d84265d9ab15a207eTest
https://pubmed.ncbi.nlm.nih.gov/16865695Test