المؤلفون: Magri, Francesca, Zanotti, Simona, Salani, Sabrina, Fortunato, Francesco, Ciscato, Patrizia, Gerevini, Simonetta, Maggi, Lorenzo, Sciacco, Monica, Moggio, Maurizio, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo Pietro, Ronchi, Dario

المساهمون: F. Magri, S. Zanotti, S. Salani, F. Fortunato, P. Ciscato, S. Gerevini, L. Maggi, M. Sciacco, M. Moggio, S. Corti, N. Bresolin, G.P. Comi, D. Ronchi

مصطلحات موضوعية: LGMD, SGCB, beta-sarcoglycan, morpholino, Child, Human, Muscle, Skeletal, Mutation, Muscular Dystrophies, Limb-Girdle, Sarcoglycanopathies, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/36077211; info:eu-repo/semantics/altIdentifier/wos/WOS:000851196900001; volume:23; issue:17; firstpage:1; lastpage:10; numberofpages:10; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/2434/944643; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137582017

الاتاحة: https://hdl.handle.net/2434/944643
https://doi.org/10.3390/ijms23179817

المؤلفون: Diniz G, Tekgul H, Hazan F, Yararbas K, Tukun A

المصدر: Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 71-76 (2015)

مصطلحات موضوعية: beta sarcoglycan (sgcb) gene, large deletion, muscular dystrophy (md), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/7ae3656ef9bf4f9493bab3d6a44b3e7d

المؤلفون: Murugesan, Vignesh

مصطلحات موضوعية: Dystrophin glycoprotein complex, beta-sarcoglycan, dystrophin, Plaque, vascular smooth muscle cells, atherosclerosis, restenosis, Medicin och hälsovetenskap, Klinisk medicin, Kardiologi, Medical and Health Sciences, Clinical Medicine, Cardiac and Cardiovascular Systems

وصف الملف: electronic

URL الوصول: https://lup.lub.lu.se/record/e0975189-b9f3-4aa7-8b56-2b7a08b15e91
https://portal.research.lu.se/files/29633052/Challenging_the_mystique_connection_Vignesh_Murugesan.pdf

المؤلفون: Cox, Melissa L., Evans, Jacquelyn M., Davis, Alexander G., Guo, Ling T., Levy, Jennifer R., Starr-Moss, Alison N., Salmela, Elina, Hytonen, Marjo K., Lohi, Hannes, Campbell, Kevin P., Clark, Leigh Anne, Shelton, G. Diane

المساهمون: Biosciences, University of Helsinki, Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics, Veterinary Biosciences, Research Programme for Molecular Neurology, Research Programs Unit

مصطلحات موضوعية: Muscle, Myopathy, Sarcoglycanopathy, Dog, LGMD, DELTA-SARCOGLYCAN, BETA-SARCOGLYCAN, ANIMAL-MODELS, GENE, COMPLEX, MUTATIONS, CANINE, SARCOSPAN, HAMSTER, Veterinary science, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: Research reported in this publication was supported in part by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health under Award Number R15AR062868 (LAC) and the Clemson University Calhoun Honors College (AGD). HL was supported by the Jane and Aatos Erkko Foundation and the Academy of Finland. ES was supported by the Jenny and Antti Wihuri Foundation. This work was supported in part by a Paul D. Wellstone Muscular Dystrophy Cooperative Research Center grant (1U54NS053672 to KPC). KPC is an investigator of the Howard Hughes Medical Institute.; Cox , M L , Evans , J M , Davis , A G , Guo , L T , Levy , J R , Starr-Moss , A N , Salmela , E , Hytonen , M K , Lohi , H , Campbell , K P , Clark , L A & Shelton , G D 2017 , ' Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers ' , Skeletal Muscle , vol. 7 , 15 . https://doi.org/10.1186/s13395-017-0131-0; ORCID: /0000-0003-1976-5874/work/80222244; ORCID: /0000-0003-1326-4462/work/156702941; http://hdl.handle.net/10138/207003; ad21c91f-ae94-4943-8cc3-a354f3f69974; 85023180710; 000405723800001

الاتاحة: http://hdl.handle.net/10138/207003

المؤلفون: G. Diane Shelton, Alexander G. Davis, Jennifer R. Levy, Elina Salmela, Hannes Lohi, Alison N. Starr-Moss, Marjo K. Hytönen, Melissa L. Cox, Ling T. Guo, Jacquelyn M. Evans, Kevin P. Campbell, Leigh Anne Clark

المساهمون: Biosciences, University of Helsinki, Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics, Veterinary Biosciences, Research Programme for Molecular Neurology, Research Programs Unit

المصدر: Skeletal Muscle, Vol 7, Iss 1, Pp 1-10 (2017)
Skeletal muscle, vol 7, iss 1
Skeletal Muscle

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, lcsh:Diseases of the musculoskeletal system, Myopathy, 413 Veterinary science, Muscular Dystrophies, Sarcospan, Limb-Girdle, 0302 clinical medicine, Loss of Function Mutation, Dog, Orthopedics and Sports Medicine, Exome, Dog Diseases, Muscular Dystrophy, Exome sequencing, Anatomy, LGMD, Sarcoglycan, ANIMAL-MODELS, BETA-SARCOGLYCAN, HAMSTER, Muscle, Female, medicine.symptom, CANINE, Sarcoglycanopathy, musculoskeletal diseases, medicine.medical_specialty, Intellectual and Developmental Disabilities (IDD), Biology, 03 medical and health sciences, Atrophy, Dogs, Rare Diseases, DELTA-SARCOGLYCAN, Sarcoglycans, medicine, Genetics, Animals, Molecular Biology, COMPLEX, MUTATIONS, Research, Human Genome, Muscle weakness, Cell Biology, medicine.disease, GENE, Brain Disorders, SARCOSPAN, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Musculoskeletal, 1182 Biochemistry, cell and molecular biology, lcsh:RC925-935, 030217 neurology & neurosurgery, Gene Deletion, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c82c1942630c7b87535b6faff7264ff
http://link.springer.com/article/10.1186/s13395-017-0131-0

المؤلفون: Lesley A. Zwicker, G. Diane Shelton, Juliette Bouillon, Ling T. Guo, Cheryl L. Vargo, Michelle Lange, Sally L. Sukut, Suzanne M Taylor

المصدر: Journal of Feline Medicine and Surgery Open Reports, Vol 5 (2019)
JFMS Open Reports

مصطلحات موضوعية: medicine.medical_specialty, 040301 veterinary sciences, dysphagia, Case Report, Bronchopneumonia, Gastroenterology, 0403 veterinary science, Weight loss, Internal medicine, sarcoglycan, medicine, amyotrophy, Muscular dystrophy, Small Animals, lcsh:Veterinary medicine, business.industry, 0402 animal and dairy science, 04 agricultural and veterinary sciences, bronchopneumonia, medicine.disease, Amyotrophy, 040201 dairy & animal science, Dysphagia, Sarcoglycan, Serum creatine kinase, Beta-Sarcoglycan, lcsh:SF600-1100, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8450c6713c0c572cabf7fc5aa72b209d
https://doaj.org/article/bc4693db01f84333a65242e06c792954

المؤلفون: Pozsgai, Eric R

المصدر: http://rave.ohiolink.edu/etdc/view?acc_num=osu147697211337827.

مصطلحات موضوعية: Biomedical Research, Gene Therapy, Muscular Dystrophy, Beta-Sarcoglycan, AAV

Relation: http://rave.ohiolink.edu/etdc/view?acc_num=osu147697211337827

الاتاحة: http://rave.ohiolink.edu/etdc/view?acc_num=osu147697211337827

المؤلفون: Pozsgai, Eric R.

مصطلحات موضوعية: Biomedical Research, Gene Therapy, Muscular Dystrophy, Beta-Sarcoglycan, AAV

الاتاحة: http://rave.ohiolink.edu/etdc/view?acc_num=osu147697211337827

المؤلفون: Nathalie Bourg, Chiara Fecchio, Justine Marsolier, Doriana Sandonà, Cécile Patissier, Isabelle Richard, Sara F. Henriques

المساهمون: Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École pratique des hautes études (EPHE)-Université d'Évry-Val-d'Essonne (UEVE)-GENETHON 3-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Saclay, Universita degli Studi di Padova, 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, Università degli Studi di Padova = University of Padua (Unipd), Richard, Isabelle, École Pratique des Hautes Études (EPHE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)

المصدر: PLoS ONE
PLoS ONE, Public Library of Science, 2018, 13 (1), pp.e0191274. ⟨10.1371/journal.pone.0191274⟩
PLoS ONE, Vol 13, Iss 1, p e0191274 (2018)
PLoS ONE, 2018, 13 (1), pp.e0191274. ⟨10.1371/journal.pone.0191274⟩

مصطلحات موضوعية: Male, Cell Membranes, MESH: Amino Acid Sequence, Biochemistry, Mice, 0302 clinical medicine, sarcoglycanopathy, MESH: Animals, lcsh:Science, Mutation, beta-sarcoglycan, MESH: Amino Acid Substitution, 3. Good health, Cell biology, Phenotypes, Engineering and Technology, Cellular Structures and Organelles, Sarcoglycanopathies, Quality Control, musculoskeletal diseases, Missense Mutation, phenotype, mouse model, MESH: Proteolysis, MESH: Mice, 129 Strain, 03 medical and health sciences, beta-sarcoglycan,dystrophin associated protein complex,missense mutations,misfolded proteins,protein quality control,protein degradation,proteasome,animal model,mouse model,CRISPR-CAS9 system,SGCB gene,sarcoglycanopathy,LGMD2E,phenotype, Species Specificity, Industrial Engineering, Genetics, Humans, MESH: Species Specificity, protein quality control, Amino Acid Sequence, MESH: Mutation, Missense, MESH: Humans, Sarcolemma, animal model, Endoplasmic reticulum, lcsh:R, Biology and Life Sciences, Proteins, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BIO] Life Sciences [q-bio]/Biotechnology, Mice, Inbred C57BL, proteasome, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, lcsh:Q, MESH: Disease Models, Animal, MESH: Female, 030217 neurology & neurosurgery, 0301 basic medicine, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, Membrane Protein Complexes, Muscle Proteins, lcsh:Medicine, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Endoplasmic Reticulum, medicine.disease_cause, Medicine and Health Sciences, Missense mutation, MESH: Muscle, Skeletal, Secretory Pathway, Multidisciplinary, Animal Models, musculoskeletal system, Sarcoglycan, Experimental Organism Systems, Cell Processes, protein degradation, Female, Anatomy, dystrophin associated protein complex, Research Article, congenital, hereditary, and neonatal diseases and abnormalities, Histology, Mice, 129 Strain, CRISPR-CAS9 system, MESH: Mice, Transgenic, MESH: Muscular Dystrophies, Limb-Girdle, Mutation, Missense, Mouse Models, Mice, Transgenic, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Research and Analysis Methods, missense mutations, SGCB gene, Model Organisms, MESH: Mice, Inbred C57BL, Glycoprotein complex, Sarcoglycans, medicine, Animals, MESH: Sarcoglycans, Muscle, Skeletal, MESH: Mice, Point mutation, Membrane Proteins, Protein Complexes, misfolded proteins, Cell Biology, MESH: Male, Disease Models, Animal, Amino Acid Substitution, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Proteolysis, LGMD2E

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e870490a93c866048ddaa264a5d63c76
https://doi.org/10.1371/journal.pone.0191274

المؤلفون: K. Yararbas, Filiz Hazan, Ajlan Tükün, Hasan Tekgul, Gulden Diniz

المساهمون: Ege Üniversitesi

المصدر: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 71-76 (2015)

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Pathology, medicine.medical_specialty, Case Report, Electromyography, QH426-470, 030105 genetics & heredity, Biology, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Muscular dystrophy, Gene, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, Chromosome, medicine.disease, Phenotype, Large deletion, Sarcoglycanopathy, Muscular dystrophy (MD), Beta sarcoglycan (SGCB) gene, Immunohistochemistry, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47c797aef72ef65fefd23a69f9a5c8e0
https://hdl.handle.net/11454/50982

المصدر: Neuromuscular disorders. 8(5):305-308

مصطلحات موضوعية: musculoskeletal diseases, COMPLEX, BETA-SARCOGLYCAN, LINKAGE, gamma-sarcoglycan, musculoskeletal system, GENE, limb girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::3a101c0461b978b25a96637938af4612
https://hdl.handle.net/11370/d2c00e00-0764-4933-9b01-65e555cd10ff

المؤلفون: Frans G. I. Jennekens, M van Meegen, M. de Visser, A. J. van der Kooi, Peter Joseph Jongen, N. J. Leschot, Pieter A. Bolhuis, H.B. Ginjaar, A. J. van Essen

المساهمون: Other departments

المصدر: Neuromuscular disorders, 8(5), 305-308. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular disorders, 8(5), 305-308. Elsevier Limited

مصطلحات موضوعية: musculoskeletal diseases, Pathology, medicine.medical_specialty, Adolescent, Genetic Linkage, Electromyography, Muscular Dystrophies, Dystrophin, Genetic linkage, Sarcoglycans, LINKAGE, medicine, Humans, Missense mutation, Child, Muscle, Skeletal, limb girdle muscular dystrophy, Genetics (clinical), Netherlands, Chromosome 13, Membrane Glycoproteins, COMPLEX, medicine.diagnostic_test, business.industry, Dystrophy, Extremities, medicine.disease, musculoskeletal system, Immunohistochemistry, GENE, Pedigree, Cytoskeletal Proteins, Neurology, BETA-SARCOGLYCAN, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Disease Progression, Gamma-Sarcoglycan, Female, Neurology (clinical), gamma-sarcoglycan, Tomography, X-Ray Computed, business, Microsatellite Repeats, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d35e38d2c868e6c5872a37d6a0ed409
https://doi.org/10.1016/s0960-8966(98)00040-6

المصدر: Brain. 119:1471-1480

مصطلحات موضوعية: AUTOSOMAL DOMINANT INHERITANCE, MUTATIONS, prevalence, GLYCOPROTEIN, CHILDHOOD, ADHALIN DEFICIENCY, CONFIRMATION, BETA-SARCOGLYCAN, ONSET, LINKAGE, GENETIC-HETEROGENEITY, alpha-sarcoglycan, linkage analysis, limb girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::e3c7717bc24411fa97b977f8ffc77165
https://hdl.handle.net/11370/3df82469-fafb-4028-88ec-8d730c9389de

المؤلفون: Klinge, L., Dekomien, Gabriele, Aboumousa, A., Charlton, R., Epplen, Jörg T., Barresi, R., Bushby, K., Straub, V.

المصدر: Neuromuscular disorders

مصطلحات موضوعية: ddc:610, ALPHA, BETA-SARCOGLYCAN, DEFICIENCY, Dystroglycan, EPSILON-SARCOGLYCAN, GAMMA-SARCOGLYCAN, GENE-MUTATIONS, GIRDLE MUSCULAR-DYSTROPHY, GLYCOPROTEIN COMPLEX, Immunoanalysis, MISSENSE MUTATIONS, Muscular dystrophy, Sarcoglycanopathy, ZETA-SARCOGLYCAN

وصف الملف: 934–941

Relation: urn:issn:0960-8966

الاتاحة: https://bibliographie.ub.rub.de/entry/cd51deaa-b134-4e00-a52c-9b080fe8e2ee

المؤلفون: Skrygan, M., Bartholomé, B., Bonafé, L., Blau, N., Bartholomé, Klaus

المصدر: Journal of inherited metabolic disease

مصطلحات موضوعية: ddc:610, ADHALIN, BETA-SARCOGLYCAN, BIOPSY, COMPLEX, GENE, limb-girdle muscular dystrophy, MUTATIONS, SARCOGLYCAN

وصف الملف: 345–351

Relation: urn:issn:0141-8955

الاتاحة: https://bibliographie.ub.rub.de/entry/e53f554b-986b-4964-9196-1a5c0b086f44

المؤلفون: Vorgerd, Matthias, Gencik, Martin, Mortier, Johannes, Epplen, Jörg T., Malin, Jean-Pierre, Mortier, Wilhelm

المصدر: Muscle & nerve

مصطلحات موضوعية: ddc:610, ADHALIN, BETA-SARCOGLYCAN, BIOPSY, COMPLEX, GENE, limb-girdle muscular dystrophy, MUTATIONS, SARCOGLYCAN

وصف الملف: 421–424

Relation: urn:issn:0148-639X

الاتاحة: https://bibliographie.ub.rub.de/entry/69cc4c66-cc0b-4df9-8553-0f7444d7465b

المؤلفون: van der Kooi, AJ, de Visser, Marianne, van Meegen, M, Ginjaar, HB, van Essen, AJ, Jennekens, FGI, Jongen, PJH, Leschot, NJ, Bolhuis, PA

المصدر: van der Kooi , AJ , de Visser , M , van Meegen , M , Ginjaar , HB , van Essen , AJ , Jennekens , FGI , Jongen , PJH , Leschot , NJ & Bolhuis , PA 1998 , ' A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy ' , Neuromuscular disorders , vol. 8 , no. 5 , pp. 305-308 .

مصطلحات موضوعية: limb girdle muscular dystrophy, gamma-sarcoglycan, BETA-SARCOGLYCAN, LINKAGE, COMPLEX, GENE

Relation: https://research.rug.nl/en/publications/d2c00e00-0764-4933-9b01-65e555cd10ff

الاتاحة: https://hdl.handle.net/11370/d2c00e00-0764-4933-9b01-65e555cd10ff
https://research.rug.nl/en/publications/d2c00e00-0764-4933-9b01-65e555cd10ff

المؤلفون: vanderKooi, AJ, Barth, PG, Busch, HFM, deHaan, R, Ginjaar, HB, vanEssen, AJ, vanHooff, LJMA, Howeler, CJ, Jennekens, FGI, Jongen, P, Oosterhuis, HJGH, Padberg, GWAM, Wintzen, AR, Wokke, JHJ, Bakker, E, vanOmmen, GJB, Bolhuis, PA, deVisser, M

المصدر: vanderKooi , AJ , Barth , PG , Busch , HFM , deHaan , R , Ginjaar , HB , vanEssen , AJ , vanHooff , LJMA , Howeler , CJ , Jennekens , FGI , Jongen , P , Oosterhuis , HJGH , Padberg , GWAM , Wintzen , AR , Wokke , JHJ , Bakker , E , vanOmmen , GJB , Bolhuis , PA & deVisser , M 1996 , ' The clinical spectrum of limb girdle muscular dystrophy - A survey in the Netherlands ' , Brain , vol. 119 , pp. 1471-1480 .

مصطلحات موضوعية: limb girdle muscular dystrophy, prevalence, alpha-sarcoglycan, linkage analysis, AUTOSOMAL DOMINANT INHERITANCE, GENETIC-HETEROGENEITY, ADHALIN DEFICIENCY, BETA-SARCOGLYCAN, GLYCOPROTEIN, ONSET, CHILDHOOD, MUTATIONS, LINKAGE, CONFIRMATION

الاتاحة: https://hdl.handle.net/11370/3df82469-fafb-4028-88ec-8d730c9389de
https://research.rug.nl/en/publications/3df82469-fafb-4028-88ec-8d730c9389de

المؤلفون: pietro giuseppe gucciardi, Princi, P., Pisani, A., Favaloro, A., Cutroneo, G.

المصدر: ResearcherID
Journal of the Korean Physical Society
47 (2005): S86–S94.
info:cnr-pdr/source/autori:Gucciardi, PG; Princi, P; Pisani, A; Favaloro, A; Cutroneo, G/titolo:Localization of alpha-sarcoglycan and f-actin in human skeletal muscle by fluorescence near field optical microscopy/doi:/rivista:Journal of the Korean Physical Society (Print)/anno:2005/pagina_da:S86/pagina_a:S94/intervallo_pagine:S86–S94/volume:47

مصطلحات موضوعية: VINCULIN, BETA-SARCOGLYCAN, RECESSIVE MUSCULAR-DYSTROPHY, near-field microscopy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f48c0677f094d13fdabef17442ab3a9
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000231740800019&KeyUID=WOS:000231740800019