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1دورية أكاديمية
المؤلفون: Quick, Silvio, Winkler, Max, Speiser, Uwe, Ibrahim, Karim, Schäfer, Jochen, Linke, Axel, Zhang, Kun, Christoph, Marian, Heidrich, Felix M.
المصدر: http://lobid.org/resources/99370675069506441Test#!, 16(1):194.
مصطلحات موضوعية: Rare cardiovascular diseases, Ventricular Function, Left [MeSH], Muscular Dystrophies, Limb-Girdle/genetics [MeSH], Limb-Girdle/diagnostic imaging [MeSH], Humans [MeSH], Prospective Studies [MeSH], Calpainopathy, LGMD2A, Magnetic Resonance Imaging, Cine [MeSH], Contrast Media [MeSH], Strain analysis, Magnetic Resonance Spectroscopy [MeSH], Cardiac magnetic resonance imaging, Gadolinium [MeSH], Feature-tracking, Limb-girdle muscular dystrophy, Research, Global longitudinal strain
العلاقة: https://repository.publisso.de/resource/frl:6464717Test; https://doi.org/10.1186/s13023-021-01826-0Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086059Test/
الإتاحة: https://doi.org/10.1186/s13023-021-01826-0Test
https://repository.publisso.de/resource/frl:6464717Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086059Test/ -
2دورية أكاديمية
المؤلفون: Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G, De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E, Lek, Monkol, MacArthur, Daniel G, Straub, Volker
المصدر: 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 ....
مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Dystroglycans/metabolism, Female, Genetic Predisposition to Disease, Genetic Variation, Glycosylation, Heterozygote, Homozygote, Humans, Male, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Whole Exome Sequencing/methods, Young Adult
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13395-018-0170-1Test
https://curis.ku.dk/portal/da/publications/detection-of-variants-in-dystroglycanopathyassociated-genes-through-the-application-of-targeted-wholeexome-sequencing-analysis-to-a-large-cohort-of-patients-with-unexplained-limbgirdle-muscle-weaknessTest(0068e518-f9ce-4b5f-b7f2-313ed225bc7e).html
https://curis.ku.dk/ws/files/218088378/s13395_018_0170_1.pdfTest -
3رسالة جامعية
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
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4دورية أكاديمية
المساهمون: Ha Young Shin, Hoon Jang, Joo Hyung Han, Hyung Jun Park, Jung Hwan Lee, So Won Kim, Seung Min Kim, Young-Eun Park, Dae-Seong Kim, Duhee Bang, Min Goo Lee, Ji Hyun Lee, Young-Chul Choi, Kim, Seung Min, Shin, Ha Young, Lee, Min Goo, Lee, Jung Hwan, Lee, Ji Hyun, Choi, Young Chul
مصطلحات موضوعية: Adolescent, Adult, Child, DNA Mutational Analysis, Dysferlin, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/genetics, Young Adult, DYSF, Dysferlinopathy, Hybridization capture, Mutation, Next-generation sequencing
وصف الملف: 502~510
العلاقة: NEUROMUSCULAR DISORDERS; J02344; OAK-2015-00991; https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test; http://www.sciencedirect.com/science/article/pii/S0960896615001005Test; T201501491; NEUROMUSCULAR DISORDERS, Vol.25(6) : 502-510, 2015
الإتاحة: https://doi.org/10.1016/j.nmd.2015.03.006Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test
http://www.sciencedirect.com/science/article/pii/S0960896615001005Test -
5دورية أكاديمية
المؤلفون: Petersen, J.A., Kuntzer, T., Fischer, D., von der Hagen, M., Huebner, A., Kana, V., Lobrinus, J.A., Kress, W., Rushing, E.J., Sinnreich, M., Jung, H.H.
المصدر: Bmc Neurology, vol. 15, no. 1, pp. 182
مصطلحات موضوعية: Adolescent, Adult, Female, Founder Effect, Heterozygote, Homozygote, Humans, Male, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Switzerland, Young Adult
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26444858; info:eu-repo/semantics/altIdentifier/eissn/1471-2377; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5DFF23E46ADD9; https://serval.unil.ch/notice/serval:BIB_5DFF23E46ADDTest; urn:issn:1471-2377; https://serval.unil.ch/resource/serval:BIB_5DFF23E46ADD.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DFF23E46ADD9Test
الإتاحة: https://doi.org/10.1186/s12883-015-0449-3Test
https://serval.unil.ch/notice/serval:BIB_5DFF23E46ADDTest
https://serval.unil.ch/resource/serval:BIB_5DFF23E46ADD.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DFF23E46ADD9Test -
6دورية أكاديمية
المؤلفون: Preiksaitiene, E., Voisin, N., Gueneau, L., Benušienė, E., Krasovskaja, N., Blažytė, E.M., Ambrozaitytė, L., Rančelis, T., Reymond, A., Kučinskas, V.
المصدر: American journal of medical genetics. Part A, vol. 182, no. 3, pp. 536-542
مصطلحات موضوعية: Adult, Brain/diagnostic imaging, Brain/pathology, Codon, Nonsense/genetics, Female, Homozygote, Humans, Infant, Newborn, Male, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/diagnostic imaging, Limb-Girdle/genetics, Limb-Girdle/pathology, Mutation/genetics, Nervous System Malformations/diagnosis, Nervous System Malformations/diagnostic imaging, Nervous System Malformations/genetics, Nervous System Malformations/pathology, Pedigree, Pregnancy, Protein Kinases/genetics, Ultrasonography, Prenatal, POMK, Walker-Warburg syndrome, hydrocephalus, muscular dystrophy-dystroglycanopathy
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31833209; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_E560C613EBEETest; urn:issn:1552-4825
الإتاحة: https://doi.org/10.1002/ajmg.a.61453Test
https://serval.unil.ch/notice/serval:BIB_E560C613EBEETest -
7دورية أكاديمية
المساهمون: Hyung Jun Park, Ji-Man Hong, Gyoung Im Suh, Ha Young Shin, Seung Min Kim, Il Nam Sunwoo, Bum Chun Suh, Young-Chul Choi, Kim, Seung Min, Park, Hyung Jun, Sunwoo, Il Nam, Shin, Ha Young, Choi, Young Chul, Hong, Ji Man
المصدر: T201201163.pdf
مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Creatine Kinase/blood, Distal Myopathies/pathology, Dysferlin, Female, Humans, Immunohistochemistry, Male, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Atrophy/pathology, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/genetics, Limb-Girdle/pathology, Mutation, Phenotype, Republic of Korea, Tomography, X-Ray Computed, Young Adult, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, mmunohistochemistry
العلاقة: JOURNAL OF KOREAN MEDICAL SCIENCE; J01517; OAK-2012-00641; https://ir.ymlib.yonsei.ac.kr/handle/22282913/90887Test; T201201163; JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.27(4) : 423-429, 2012
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8دورية أكاديمية
المؤلفون: Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi, T., Kanagawa, M., Beltrán-Valero de Bernabé, D., Gündeşli, H., Willer, T., Satz, J.S., Crawford, R.W., Burden, S.J., Kunz, S., Oldstone, M.B., Accardi, A., Talim, B., Muntoni, F., Topaloğlu, H., Dinçer, P., Campbell, K.P.
المصدر: New England Journal of Medicine, vol. 364, no. 10, pp. 939-946
مصطلحات موضوعية: Animals, Disease Models, Animal, Dystroglycans/genetics, Female, Humans, Mice, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Missense, Pedigree, Phenotype, Sequence Analysis, DNA
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21388311; info:eu-repo/semantics/altIdentifier/eissn/1533-4406; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_75F27BF27F444; https://serval.unil.ch/notice/serval:BIB_75F27BF27F44Test; urn:issn:0028-4793; https://serval.unil.ch/resource/serval:BIB_75F27BF27F44.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_75F27BF27F444Test
الإتاحة: https://doi.org/10.1056/NEJMoa1006939Test
https://serval.unil.ch/notice/serval:BIB_75F27BF27F44Test
https://serval.unil.ch/resource/serval:BIB_75F27BF27F44.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_75F27BF27F444Test -
9
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 muscleمصطلحات 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 -
10رسالة جامعية
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