المؤلفون: Silva, Francisco Marcos Alencar da

مرشدي الرسالة: Zanoteli, Edmar

مصطلحات موضوعية: Blotting western, Calpain, Calpaína, Distrofia muscular de cinturas, Distrofia muscular de cinturas/genética, Distrofia muscular de cinturas/patologia, Distrofias musculares/diagnóstico, Muscular dystrophies limb-girdle, Muscular dystrophies limb-girdle/genetics, Muscular dystrophies limb-girdle/pathology, Muscular dystrophies/diagnosis, Western blotting

وصف الملف: application/pdf

الإتاحة: http://www.teses.usp.br/teses/disponiveis/5/5138/tde-18112016-113304Test/

المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test

المؤلفون: Francisco Marcos Alencar da Silva

مرشدي الرسالة: Edmar Zanoteli, Leslie Domenici Kulikowski

المصدر: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

مصطلحات موضوعية: Calpaína, Distrofia muscular de cinturas, Distrofia muscular de cinturas/genética, Distrofia muscular de cinturas/patologia, Distrofias musculares/diagnóstico, Western blotting, Blotting western, Calpain, Muscular dystrophies limb-girdle, Muscular dystrophies limb-girdle/genetics, Muscular dystrophies limb-girdle/pathology, Muscular dystrophies/diagnosis

الإتاحة: http://www.teses.usp.br/teses/disponiveis/5/5138/tde-18112016-113304Test/

المؤلفون: Hans H. Jung, Michael Sinnreich, Jens A. Petersen, Wolfram Kress, Thierry Kuntzer, Angela Huebner, Elisabeth J. Rushing, Maja von der Hagen, Johannes Alexander Lobrinus, Veronika Kana, Dirk Fischer

المساهمون: University of Zurich, Petersen, Jens A

المصدر: BMC Neurology, Vol. 15 (2015) P. 182
BMC neurology
BMC Neurology
Bmc Neurology, vol. 15, no. 1, pp. 182

مصطلحات موضوعية: Adult, Male, Heterozygote, Dysferlinopathy, Adolescent, Clinical Neurology, 10208 Institute of Neuropathology, Muscle Proteins, 610 Medicine & health, ddc:616.07, medicine.disease_cause, Dysferlin, Young Adult, medicine, Humans, Myopathy, ddc:611, Genetics, Mutation, biology, Genetic heterogeneity, business.industry, Homozygote, Haplotype, Membrane Proteins, General Medicine, Anatomy, Middle Aged, medicine.disease, Founder Effect, 10040 Clinic for Neurology, 3. Good health, 2728 Neurology (clinical), Phenotype, Muscular Dystrophies, Limb-Girdle, Female, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Switzerland, biology.protein, Neurology (clinical), medicine.symptom, business, Research Article, Limb-girdle muscular dystrophy, Founder effect

وصف الملف: s12883-015-0449-3.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5d47ec334c3e9a41a950925d0c5859Test
https://doi.org/10.1186/s12883-015-0449-3Test

المؤلفون: Jacques S. Beckmann, Melissa J. Spencer

المصدر: Neuromuscular Disorders, vol. 18, no. 12, pp. 913-921

مصطلحات موضوعية: Sarcomeres, Gene isoform, Muscle Proteins, Models, Biological, Sarcomere, Article, medicine, Animals, Humans, Calpain/genetics, Calpain/metabolism, Muscle Proteins/genetics, Muscle Proteins/metabolism, Muscular Dystrophies, Limb-Girdle/genetics, Muscular Dystrophies, Limb-Girdle/metabolism, Mutation, Sarcomeres/metabolism, Muscular dystrophy, Genetics (clinical), Loss function, Genetics, biology, Calpain, Dystrophy, medicine.disease, Cell biology, Muscular Dystrophies, Limb-Girdle, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Titin, Neurology (clinical), Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d38571d4127b7b2f9c161021bded730Test
https://doi.org/10.1016/j.nmd.2008.08.005Test

المؤلفون: Laure Grand Moursel, Rune R. Frants, Jun Wang, René E. M. Toes, Ivana Bagaric, Silvère M. van der Maarel, Eduard Gallardo, Bàrbara Flix, Antoine de Morrée, Isabel Illa, Marlinde L. van den Boogaard

المصدر: JOURNAL OF BIOLOGICAL CHEMISTRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Biological Chemistry, 288(20), 14147-14157
de Morrée, A, Flix, B, Bagaric, I, Wang, J, van den Boogaard, M, Grand Moursel, L, Frants, R R, Illa, I, Gallardo, E, Toes, R & van der Maarel, S M 2013, ' Dysferlin regulates cell adhesion in human monocytes ', The Journal of Biological Chemistry, vol. 288, no. 20, pp. 14147-14157 . https://doi.org/10.1074/jbc.M112.448589Test

مصطلحات موضوعية: Monocytes/cytology, Dysferlinopathy, Integrin, Cell, Muscle Proteins, Biology, Biochemistry, Monocytes, Muscular Dystrophies, Dysferlin, Cell membrane, medicine, Cell Adhesion, Humans, Muscular Dystrophies/metabolism, Membrane Proteins/genetics, Muscle, Skeletal, Cell adhesion, Molecular Biology, Inflammation, Muscle Proteins/genetics, Muscle, Skeletal/metabolism, Monocyte, Macrophages, Integrin beta3, Muscular Dystrophies, Limb-Girdle/genetics, Membrane Proteins, Cell Differentiation, Cell Biology, biochemical phenomena, metabolism, and nutrition, medicine.disease, Cell biology, Fibronectin, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Gene Expression Regulation, Immune System, Mutation, biology.protein, Integrin beta3/metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed5bf61dc43b228f7acaa8aa2ad1ec10Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10011Test

المؤلفون: Gulcin Pekkurnaz, Joshua Zimmerberg, Elena Mekhedov, Glen Humphrey, Antoine de Morrée, Paul S. Blank, Kanneboyina Nagaraju

المصدر: Humphrey, G W, Mekhedov, E, Blank, P S, de Morree, A, Pekkurnaz, G, Nagaraju, K & Zimmerberg, J 2012, ' GREG cells, a dysferlin-deficient myogenic mouse cell line ', Experimental Cell Research, vol. 318, no. 2, pp. 127-35 . https://doi.org/10.1016/j.yexcr.2011.10.004Test

مصطلحات موضوعية: Dysferlinopathy, Muscle Fibers, Skeletal/metabolism, Muscle Fibers, Skeletal, Wounds and Injuries/genetics, Pyridinium Compounds, Muscle Development, Article, Cell Line, Dysferlin, Myoblasts, Mice, Lasers/adverse effects, Genetic model, medicine, Myocyte, Animals, Membrane Proteins/genetics, Muscle, Skeletal/injuries, Muscle, Skeletal, Cell Proliferation, biology, Myogenesis, Lasers, Muscular Dystrophies, Limb-Girdle/genetics, Myoblasts/metabolism, Plasma membrane repair, Membrane Proteins, Cell Biology, Quaternary Ammonium Compounds/adverse effects, medicine.disease, Cell biology, Quaternary Ammonium Compounds, Membrane protein, Biochemistry, Muscular Dystrophies, Limb-Girdle, biology.protein, Muscle Development/genetics, Wounds and Injuries, C2C12, Pyridinium Compounds/adverse effects

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::156866ab8970d9792fc4e1b5f57e4c0cTest
https://pure.au.dk/portal/da/publications/greg-cells-a-dysferlindeficient-myogenic-mouse-cell-lineTest(f9da42d8-4dbf-4004-a973-dacb38b07d80).html

المؤلفون: Francesco Muntoni, Hulya Gundesli, Beril Talim, Haluk Topaloglu, Motoi Kanagawa, Jakob S. Satz, Alessio Accardi, Stefan Kunz, Yuji Hara, Steven J. Burden, Daniel Beltrán-Valero de Bernabé, Pervin Dinçer, Robert W. Crawford, Takako Yoshida-Moriguchi, Kevin P. Campbell, Burcu Balci-Hayta, Tobias Willer, Michael B. A. Oldstone

المصدر: New England Journal of Medicine, vol. 364, no. 10, pp. 939-946

مصطلحات موضوعية: musculoskeletal diseases, animal structures, Mutation, Missense, Article, Dystroglycans, Mice, Laminin, medicine, Dystroglycan, Missense mutation, Animals, Humans, Muscular dystrophy, biology, Skeletal muscle, General Medicine, Sequence Analysis, DNA, medicine.disease, Disease Models, Animal, Dystroglycans/genetics, Female, Muscular Dystrophies, Limb-Girdle/genetics, Pedigree, Phenotype, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, biology.protein, Cancer research, Pikachurin, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5092580db21147cc92735b2fe0de1b6Test
https://pubmed.ncbi.nlm.nih.gov/21388311Test

المؤلفون: Kate Bushby, Alexandra van Remoortere, Johan T. den Dunnen, Rune R. Frants, Yanchao Huang, Antoine de Morrée, Silvère M. van der Maarel

المصدر: Huang, Y, de Morrée, A, van Remoortere, A, Bushby, K, Frants, R R, den Dunnen, J T & van der Maarel, S M 2008, ' Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle ', Human Molecular Genetics, vol. 17, no. 12, pp. 1855-66 . https://doi.org/10.1093/hmg/ddn081Test

مصطلحات موضوعية: Muscle Proteins, Down-Regulation, Muscle disorder, Sarcomere, Dysferlin, Mice, Downregulation and upregulation, Multiprotein Complexes/metabolism, Chlorocebus aethiops, Genetics, medicine, Animals, Neoplasm Proteins/metabolism, Muscular dystrophy, Muscle, Skeletal, Molecular Biology, Genetics (clinical), Muscle Proteins/metabolism, Muscle, Skeletal/metabolism, biology, Calpain, Calpain/metabolism, Muscular Dystrophies, Limb-Girdle/genetics, Skeletal muscle, Membrane Proteins, General Medicine, Articles, 3T3 Cells, medicine.disease, Cell biology, Neoplasm Proteins, Up-Regulation, medicine.anatomical_structure, Membrane protein, Biochemistry, Muscular Dystrophies, Limb-Girdle, Multiprotein Complexes, COS Cells, biology.protein, Membrane Proteins/metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67503d939f2ea79a062199096ab65d7eTest
https://pure.au.dk/portal/da/publications/calpain-3-is-a-modulator-of-the-dysferlin-protein-complex-in-skeletal-muscleTest(3311d29d-14a2-4278-81ee-89c2ca100679).html

المؤلفون: A Meulemans, Sara Seneca, Linda De Meirleir, Joél Smet, Willy Lissens, Jan De Bleecker, Rudy Van Coster, Boel De Paepe

المساهمون: Faculty of Medicine and Pharmacy, Department of Embryology and Genetics, Pediatrics

المصدر: Vrije Universiteit Brussel

مصطلحات موضوعية: Muscle tissue, Mitochondrial DNA, Muscle Fibers, Skeletal, oxidative phosphorylation, Biology, DNA, Mitochondrial, law.invention, Restriction fragment, DNA, Mitochondrial/genetics, Electron Transport Complex IV, RNA, Transfer, Arts and Humanities (miscellaneous), law, Electron Transport Complex IV/genetics, medicine, Cytochrome c oxidase, oxidative phosphorylation system, Humans, Muscle, Skeletal, Myopathy, Muscle Fibers, Skeletal/pathology, Gene, Polymerase chain reaction, Mutation/physiology, Polymorphism, Single-Stranded Conformational, Genetics, mt disorders, Muscular Dystrophies, Limb-Girdle/genetics, Middle Aged, Molecular biology, Immunohistochemistry, Heteroplasmy, Blotting, Southern, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Muscle, Skeletal/pathology, Mutation, biology.protein, Electrophoresis, Polyacrylamide Gel, Female, Neurology (clinical), medicine.symptom, DNA mutations, RNA, Transfer/genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3537da1e5c6bb49f9ddfe86691abbba9Test
https://doi.org/10.1001/archneur.64.9.1339Test