المؤلفون: Pierson, C. R., Dulin-Smith, A. N., Durban, A. N., Marshall, M. L., Marshall, J. T., Snyder, A. D., Naiyer, N., Gladman, J. T., Chandler, D. S., Lawlor, M. W., Buj-Bello, A., Dowling, J. J., Beggs, A. H.

المساهمون: Immunologie moléculaire et biothérapies innovantes (IMBI), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon

المصدر: Hum Mol Genet ; https://hal.science/hal-02881147Test ; Hum Mol Genet, 2012, 21 (4), pp.811-25. ⟨10.1093/hmg/ddr512⟩

مصطلحات موضوعية: Humans, Male, Animals, Mice, Calcium/metabolism, Animal, Disease Models, Inbred C57BL, Phenotype, Knockout, Exons/*genetics, Muscle, Skeletal/metabolism, Genetic Association Studies, Female, Missense/genetics, Mutation, Myopathies, Structural, Congenital/*genetics/*pathology/physiopathology, Point Mutation/*genetics, Protein Tyrosine Phosphatases, Non-Receptor/analysis/biosynthesis/*genetics/metabolism, Phosphatidylinositol Phosphates/metabolism, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22068590; hal-02881147; https://hal.science/hal-02881147Test; PUBMED: 22068590; PUBMEDCENTRAL: PMC3263994

الإتاحة: https://doi.org/10.1093/hmg/ddr512Test
https://hal.science/hal-02881147Test

المؤلفون: Dowling, J. J., Joubert, R., Low, S. E., Durban, A. N., Messaddeq, N., Li, Xiaojian, Dulin-Smith, A. N., Snyder, A. D., Marshall, M. L., Marshall, J. T., Beggs, A. H., Buj-Bello, A., Pierson, C. R.

المساهمون: University of Michigan Ann Arbor, University of Michigan System, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immunologie moléculaire et biothérapies innovantes (IMBI), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon

المصدر: ISSN: 1754-8403.

مصطلحات موضوعية: Motor Activity/drug effects, Myopathies, Congenital/*pathology/physiopathology/*therapy, Structural, Neuregulin-1/metabolism, Neuromuscular Junction/drug effects/*pathology/physiopathology/ultrastructure, Phenotype, Knockout, Cell Membrane/drug effects/metabolism, Animal, Mice, Gene Expression Regulation/drug effects, Receptors, Pyridostigmine Bromide/pharmacology, Synaptic Transmission/drug effects, Signal Transduction/drug effects/genetics, Cholinergic/genetics/metabolism, Animals, Disease Models, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22645112; hal-02881204; https://hal.science/hal-02881204Test; PUBMED: 22645112; PUBMEDCENTRAL: PMC3484867

الإتاحة: https://doi.org/10.1242/dmm.009746Test
https://hal.science/hal-02881204Test

المؤلفون: Pierson, C. R., Dulin-Smith, A. N., Durban, A. N., Marshall, M. L., Marshall, J. T., Snyder, A. D., Naiyer, N., Gladman, J. T., Chandler, D. S., Lawlor, M. W., Buj-Bello, A., Dowling, J. J., Beggs, A. H.

المساهمون: Immunologie moléculaire et biothérapies innovantes (IMBI), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon

المصدر: Hum Mol Genet ; https://hal.science/hal-02881147Test ; Hum Mol Genet, 2012, 21 (4), pp.811-25. ⟨10.1093/hmg/ddr512⟩

مصطلحات موضوعية: Humans, Male, Animals, Mice, Calcium/metabolism, Animal, Disease Models, Inbred C57BL, Phenotype, Knockout, Exons/*genetics, Muscle, Skeletal/metabolism, Genetic Association Studies, Female, Missense/genetics, Mutation, Myopathies, Structural, Congenital/*genetics/*pathology/physiopathology, Point Mutation/*genetics, Protein Tyrosine Phosphatases, Non-Receptor/analysis/biosynthesis/*genetics/metabolism, Phosphatidylinositol Phosphates/metabolism, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22068590; hal-02881147; https://hal.science/hal-02881147Test; PUBMED: 22068590; PUBMEDCENTRAL: PMC3263994

الإتاحة: https://doi.org/10.1093/hmg/ddr512Test
https://hal.science/hal-02881147Test

المؤلفون: Dowling, J. J., Joubert, R., Low, S. E., Durban, A. N., Messaddeq, N., Li, Xiaojian, Dulin-Smith, A. N., Snyder, A. D., Marshall, M. L., Marshall, J. T., Beggs, A. H., Buj-Bello, A., Pierson, C. R.

المساهمون: University of Michigan Ann Arbor, University of Michigan System, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immunologie moléculaire et biothérapies innovantes (IMBI), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon

المصدر: ISSN: 1754-8403.

مصطلحات موضوعية: Motor Activity/drug effects, Myopathies, Congenital/*pathology/physiopathology/*therapy, Structural, Neuregulin-1/metabolism, Neuromuscular Junction/drug effects/*pathology/physiopathology/ultrastructure, Phenotype, Knockout, Cell Membrane/drug effects/metabolism, Animal, Mice, Gene Expression Regulation/drug effects, Receptors, Pyridostigmine Bromide/pharmacology, Synaptic Transmission/drug effects, Signal Transduction/drug effects/genetics, Cholinergic/genetics/metabolism, Animals, Disease Models, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22645112; hal-02881204; https://hal.science/hal-02881204Test; PUBMED: 22645112; PUBMEDCENTRAL: PMC3484867

الإتاحة: https://doi.org/10.1242/dmm.009746Test
https://hal.science/hal-02881204Test

المؤلفون: Pierson, C. R., Dulin-Smith, A. N., Durban, A. N., Marshall, M. L., Marshall, J. T., Snyder, A. D., Naiyer, N., Gladman, J. T., Chandler, D. S., Lawlor, M. W., Buj-Bello, A., Dowling, J. J., Beggs, A. H.

المساهمون: Immunologie moléculaire et biothérapies innovantes (IMBI), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon

المصدر: Hum Mol Genet ; https://hal.science/hal-02881147Test ; Hum Mol Genet, 2012, 21 (4), pp.811-25. ⟨10.1093/hmg/ddr512⟩

مصطلحات موضوعية: Humans, Male, Animals, Mice, Calcium/metabolism, Animal, Disease Models, Inbred C57BL, Phenotype, Knockout, Exons/*genetics, Muscle, Skeletal/metabolism, Genetic Association Studies, Female, Missense/genetics, Mutation, Myopathies, Structural, Congenital/*genetics/*pathology/physiopathology, Point Mutation/*genetics, Protein Tyrosine Phosphatases, Non-Receptor/analysis/biosynthesis/*genetics/metabolism, Phosphatidylinositol Phosphates/metabolism, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22068590; hal-02881147; https://hal.science/hal-02881147Test; PUBMED: 22068590; PUBMEDCENTRAL: PMC3263994

الإتاحة: https://doi.org/10.1093/hmg/ddr512Test
https://hal.science/hal-02881147Test

المؤلفون: Dowling, J. J., Joubert, R., Low, S. E., Durban, A. N., Messaddeq, N., Li, Xiaojian, Dulin-Smith, A. N., Snyder, A. D., Marshall, M. L., Marshall, J. T., Beggs, A. H., Buj-Bello, A., Pierson, C. R.

المساهمون: University of Michigan Ann Arbor, University of Michigan System, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immunologie moléculaire et biothérapies innovantes (IMBI), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon

المصدر: ISSN: 1754-8403.

مصطلحات موضوعية: Motor Activity/drug effects, Myopathies, Congenital/*pathology/physiopathology/*therapy, Structural, Neuregulin-1/metabolism, Neuromuscular Junction/drug effects/*pathology/physiopathology/ultrastructure, Phenotype, Knockout, Cell Membrane/drug effects/metabolism, Animal, Mice, Gene Expression Regulation/drug effects, Receptors, Pyridostigmine Bromide/pharmacology, Synaptic Transmission/drug effects, Signal Transduction/drug effects/genetics, Cholinergic/genetics/metabolism, Animals, Disease Models, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22645112; hal-02881204; https://hal.science/hal-02881204Test; PUBMED: 22645112; PUBMEDCENTRAL: PMC3484867

الإتاحة: https://doi.org/10.1242/dmm.009746Test
https://hal.science/hal-02881204Test

المؤلفون: Pierson, C. R., Dulin-Smith, A. N., Durban, A. N., Marshall, M. L., Marshall, J. T., Snyder, A. D., Naiyer, N., Gladman, J. T., Chandler, D. S., Lawlor, M. W., Buj-Bello, A., Dowling, J. J., Beggs, A. H.

المساهمون: Immunologie moléculaire et biothérapies innovantes (IMBI), Généthon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Évry-Val-d'Essonne (UEVE)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)

المصدر: Hum Mol Genet ; https://hal.archives-ouvertes.fr/hal-02881147Test ; Hum Mol Genet, 2012, 21 (4), pp.811-25. ⟨10.1093/hmg/ddr512⟩

مصطلحات موضوعية: Phosphatidylinositol Phosphates/metabolism, Protein Tyrosine Phosphatases, Non-Receptor/analysis/biosynthesis/*genetics/metabolism, Mutation, Missense/genetics, Exons/*genetics, Muscle, Skeletal/metabolism, Genetic Association Studies, Female, Phenotype, Knockout, Animal, Disease Models, Inbred C57BL, Calcium/metabolism, Mice, Animals, Male, Humans, Structural, Point Mutation/*genetics, Congenital/*genetics/*pathology/physiopathology, Myopathies, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22068590; hal-02881147; https://hal.archives-ouvertes.fr/hal-02881147Test; PUBMED: 22068590

الإتاحة: https://doi.org/10.1093/hmg/ddr512Test
https://hal.archives-ouvertes.fr/hal-02881147Test

المؤلفون: Dowling, J. J., Joubert, R., Low, S. E., Durban, A. N., Messaddeq, N., Li, Xiaojian, Dulin-Smith, A. N., Snyder, A. D., Marshall, M. L., Marshall, J. T., Beggs, A. H., Buj-Bello, A., Pierson, C. R.

المساهمون: University of Michigan Ann Arbor, University of Michigan System, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Immunologie moléculaire et biothérapies innovantes (IMBI), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon

المصدر: ISSN: 1754-8403.

مصطلحات موضوعية: Neuromuscular Junction/drug effects/*pathology/physiopathology/ultrastructure, Neuregulin-1/metabolism, Congenital/*pathology/physiopathology/*therapy, Myopathies, Structural, Knockout, Motor Activity/drug effects, Cell Membrane/drug effects/metabolism, Gene Expression Regulation/drug effects, Mice, Animal, Disease Models, Animals, Pyridostigmine Bromide/pharmacology, Synaptic Transmission/drug effects, Cholinergic/genetics/metabolism, Signal Transduction/drug effects/genetics, Receptors, Phenotype, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22645112; hal-02881204; https://hal.archives-ouvertes.fr/hal-02881204Test; PUBMED: 22645112

الإتاحة: https://doi.org/10.1242/dmm.009746Test
https://hal.archives-ouvertes.fr/hal-02881204Test