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1دورية أكاديمية
المؤلفون: Indar Kumar Sharawat, Aparna Ramachandran, Prateek Kumar Panda, Aman Elwadhi, Apurva Tomar
المصدر: Annals of Indian Academy of Neurology, Vol 26, Iss 4, Pp 453-460 (2023)
مصطلحات موضوعية: limb-girdle muscle weakness, lower motor disease, muscular dystrophy, neuromuscular disease, proximal weakness, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=4;spage=453;epage=460;aulast=SharawatTest; https://doaj.org/toc/0972-2327Test; https://doaj.org/toc/1998-3549Test
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2دورية أكاديمية
المؤلفون: Cerino, Mathieu, Gonzalez-Hormazabal, Patricio, Abaji, Mario, Courrier, Sebastien, Puppo, Francesca, Mathieu, Yves, Trangulao, Alejandra, Earle, Nicholas, Castiglioni, Claudia, Diaz, Jorge, Campero, Mario, Hughes, Ricardo, Vargas, Carmen, Cortes, Rocio, Kleinsteuber, Karin, Acosta, Ignacio, Urtizberea, J. Andoni, Levy, Nicolas, Bartoli, Marc, Krahn, Martin, Jara, Lilian, Caviedes, Pablo, Gorokhova, Svetlana, Bevilacqua, Jorge A.
المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidad de Chile = University of Chile Santiago (UCHILE), Hospital Clínico Universidad de Chile, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: ISSN: 2073-4425 ; Genes ; https://amu.hal.science/hal-03780367Test ; Genes, 2022, 13 (6), ⟨10.3390/genes13061076⟩.
مصطلحات موضوعية: limb-girdle muscle weakness, LGMD, hereditary myopathies, high-throughput sequencing, next-generation sequencing, Chile, [SDV.GEN]Life Sciences [q-bio]/Genetics
العلاقة: hal-03780367; https://amu.hal.science/hal-03780367Test; https://amu.hal.science/hal-03780367/documentTest; https://amu.hal.science/hal-03780367/file/Genetic%20Profile%20of%20Patients%20with%20LimbTest-Girdle%20Muscle%20Weakness%20%281%29.pdf
الإتاحة: https://doi.org/10.3390/genes13061076Test
https://amu.hal.science/hal-03780367Test
https://amu.hal.science/hal-03780367/documentTest
https://amu.hal.science/hal-03780367/file/Genetic%20Profile%20of%20Patients%20with%20LimbTest-Girdle%20Muscle%20Weakness%20%281%29.pdf -
3دورية أكاديمية
المؤلفون: Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A. Bevilacqua
المصدر: Genes; Volume 13; Issue 6; Pages: 1076
مصطلحات موضوعية: limb-girdle muscle weakness, LGMD, hereditary myopathies, high-throughput sequencing, next-generation sequencing, Chile
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13061076Test
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4دورية أكاديمية
المؤلفون: Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: Next-generation sequencing, Limb-girdle muscle weakness, Pompe disease, Latin America, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Bevilacqua, Jorge, Guecaimburu Ehuletche, María del Rosario, Perna, Abayuba, Dubrovsky, Alberto, Franca, Marcondes C., Vargas, Steven, Hegde, Madhuri, Claeys, Kristl G., Straub, Volker, Daba, Nadia, Faria, Roberta, Periquet, Magali, Sparks, Susan, Thibault, Nathan, Araujo, Roberto
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: Next-generation sequencing, Limb-girdle muscle weakness, Pompe disease, Latin America
وصف الملف: application/pdf
العلاقة: Orphanet Journal of Rare Diseases (2020) 15:11; https://repositorio.uchile.cl/handle/2250/174633Test
الإتاحة: https://doi.org/10.1186/s13023-019-1291-2Test
https://repositorio.uchile.cl/handle/2250/174633Test -
6دورية أكاديمية
المؤلفون: Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Whole-exome sequencing, Dystroglycanopathies, Limb-girdle muscle weakness, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13395-018-0170-1Test; https://doaj.org/toc/2044-5040Test
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7دورية أكاديمية
المؤلفون: Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Åusakowska, 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
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
مصطلحات موضوعية: Dystroglycanopathies, Limb-girdle muscle weakness, Whole-exome sequencing
العلاقة: boreal:220057; http://hdl.handle.net/2078.1/220057Test; info:pmid/; urn:EISSN:2044-5040
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8دورية أكاديمية
المؤلفون: Desikan, M, Scalco, RS, Manole, A, Gardiner, A, schapira, A, Lachmann, R, Houlden, H, Holton, J, Phadke, R, Quinlivan, R
المصدر: Neuromuscular Disorders , 28 (4) pp. 346-349. (2018)
مصطلحات موضوعية: GYG1, Glycogen Storage Disease, polyglucosan body myopathy, progressive muscle weakness, limb girdle muscle weakness, Life expectancy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10041304/1/Desikan%20et%20al,%20GYG1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10041304Test/
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9دورية أكاديمية
المؤلفون: Ekmekci, H., Gokyigit, M.C., Durmus, H., Karlı, N., Koseoglu, E., Aysal, F., Kotan, D.
مصطلحات موضوعية: LOPD, Registry, creatine kinase, glucan 1,4 alpha glucosidase, adult, aged, Article, controlled study, creatine kinase blood level, data base, male, multicenter study, muscle weakness, mutational analysis, myopathy, priority journal, respiratory distress, screening, Turkey (republic), Limb girdle muscle weakness, Acid alpha glucosidase, disease registry, electrodiagnosis, enzyme assay, enzyme blood level, female, genetic screening, glycogen storage disease type 2, histopathology, human
العلاقة: Neuromuscular Disorders; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/10843Test; https://doi.org/10.1016/j.nmd.2017.12.008Test; 28; 262; 267; 2-s2.0-85041609610; WOS:000430763800010
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10دورية أكاديمية
المؤلفون: Çelik Gökyiğit, Münevver, Ekmekçi, Hakan, Durmuş, Hacer, Karlı, Necdet, Köseoğlu, Emel, Aysal, Fikret, Kotan, Dilcan, Ali, Asuman, Kahraman Koytak, Pınar, Karasoy, Hatice, Yaman, Aylin, Şengün, İhsan Şükrü, Sayın, Refah, Tiftikcioğlu, Bedile Irem, Soysal, Aysun, Tutkavul, Kemal, Oytun Bayrak, Ayşe, Kısabay, Ayşın, Elçi, Mehmet Ali, Yayla, Vildan, Yılmaz, İbrahim Arda, Özdamar, Sevim Erdem, Erdoğan, Çağdaş, Taşdemir, Nebahat, Oflazer, Zehra Piraye
مصطلحات موضوعية: LOPD, Registry, Limb Girdle Muscle Weakness, Acid Alpha Glucosidase
وصف الملف: application/pdf
العلاقة: Neuromuscular Disorders; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Çelik Gökyiğit, M., Ekmekçi, H., Durmuş, H., Karlı, N., Köseoğlu, E., Aysal, F. . Oflazer, Z. P. (2018). A database for screening and registering late onset Pompe disease in Turkey. Neuromuscular Disorders, 28(3), 262-267. https://dx.doi.org/10.1016/j.nmd.2017.12.008Test; https://dx.doi.org/10.1016/j.nmd.2017.12.008Test; https://hdl.handle.net/20.500.12511/2083Test; 28; 262; 267; Q2; Q1
الإتاحة: https://doi.org/20.500.12511/2083Test
https://doi.org/10.1016/j.nmd.2017.12.008Test
https://hdl.handle.net/20.500.12511/2083Test