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

الوصول الحر: https://doaj.org/article/027dd9aec41d46d9899a0062df06f6b2Test

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

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

الإتاحة: https://doi.org/10.3390/genes13061076Test

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

الوصول الحر: https://doaj.org/article/7238d780e8914ec39d31737fd18f471eTest

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

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

الوصول الحر: https://doaj.org/article/7b793b20033f4da8837130c6461f81e4Test

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

الإتاحة: https://doi.org/10.1186/s13395-018-0170-1Test
http://hdl.handle.net/2078.1/220057Test

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10041304/1/Desikan%20et%20al,%20GYG1.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10041304Test/

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

الإتاحة: https://doi.org/10.1016/j.nmd.2017.12.008Test
https://hdl.handle.net/11499/10843Test

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