المؤلفون: Chien-Heng Lin, Sheng-Shing Lin, Syuan-Yu Hong, Chieh-Ho Chen, I-Ching Chou

المصدر: The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 60, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: Early diagnosis, LAMA2 mutations, Muscular dystrophy, Whole-exome sequencing, Periventricular white matter abnormalities, Asphyxia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1687-8329Test

الوصول الحر: https://doaj.org/article/68d11d1f775a4132bd904bd24985ca24Test

المؤلفون: Chen G, Li L, Sun T, Jiang C, Xu W, Chen S, Hu C, Yue Y, Wang T, Jiang W, Yuan Y

المصدر: Neuropsychiatric Disease and Treatment, Vol Volume 19, Pp 2807-2816 (2023)

مصطلحات موضوعية: major depressive disorder, right transverse temporal gyrus, lama2, interaction, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/the-interaction-ofTest-lama2-and-duration-of-illness-affects-the-thickness-peer-reviewed-fulltext-article-NDT; https://doaj.org/toc/1178-2021Test

الوصول الحر: https://doaj.org/article/f3c650014aea4c598e8d84be157eff0bTest

المؤلفون: Smeets, Hubert, Verbrugge, Bram, Bulbena, Xavier, Hristova, Liliya, Vogt, Julia, van Beckhoven, Isabelle, Allamand, Valérie, Almekinders, Josephine, Barquinero, Jordi, Berreur, Séverine, Bönnemann, Carsten, Bouman, Karlijn, de Bruin, Laura, Caron, Leslie, Damon, Céline, Durbeej, Madeleine, Feijen, Doris, Foley, Reghan, Goncalves, Ana, Rita, Camelo, Clara, Gontijo, Güell, Marc, Haliloğlu, Göknur, Kemaladewi, Dwi, Klein, Andrea, Koleda, Nastia, Minko, Olga, Munell, Francina, Nebermann, Tim, Pini, Veronica, Previtali, Stefano, Roos, Andreas, Rüegg, Markus, Sarkozy, Anna, Seferian, Andrea, Stepniewski, Jacek, van Straten, Emma, van Tienen, Florence, Quijano-Roy, Susana, Voermans, Nicol, West, Alexia, Yurchenco, Peter, Moy, Justin, Almeida, Cristina, Becker, Johannes, Gill, Louise

المساهمون: Universität Ulm - Ulm University Ulm, Allemagne, Universitätsklinikum Ulm - University Hospital of Ulm, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), LAMA2 France, National Institute of Neurological Disorders and Stroke Bethesda (NINDS), National Institutes of Health Bethesda, MD, USA (NIH), 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), Aix Marseille Université (AMU), Skane University Hospital Lund, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), STIM/AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Horizon 2020LAMA2 FranceImpulsaT SpainVoor Sara, the Netherlands, European Project: 825575,EJP RD

المصدر: ISSN: 0960-8966 ; Neuromuscular Disorders.

مصطلحات موضوعية: LAMA2, muscular dystrophy, rare diseases, natural history, patient-advocacy, therapy, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/grantAgreement//825575/EU/ EJP Rare Diseases initiative/EJP RD; hal-04546346; https://amu.hal.science/hal-04546346Test; https://amu.hal.science/hal-04546346/documentTest; https://amu.hal.science/hal-04546346/file/2024Test.LAMA2%20Barcelona.publication.pdf

الإتاحة: https://doi.org/10.1016/j.nmd.2024.01.001Test
https://amu.hal.science/hal-04546346Test
https://amu.hal.science/hal-04546346/documentTest
https://amu.hal.science/hal-04546346/file/2024Test.LAMA2%20Barcelona.publication.pdf

المؤلفون: Yanze Li, Kai Xu, Ye Zhang, Hu Mao, Qiangmin Qiu, Zhiwei Yan, Xiuheng Liu, Yang Du, Zhiyuan Chen

المصدر: BMC Cancer, Vol 23, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Basement membrane, Bladder cancer, Immune, Signature, LAMA2, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2407Test

الوصول الحر: https://doaj.org/article/5609df84de7f4ddd88bd6a5200480197Test

المؤلفون: Cavaco, Cláudia Sofia Paulino

المساهمون: Thorsteinsdóttir, Sólveig, 1962-, Carlos, Ana Rita Cabral Martins, 1985-, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Lama2, LAMA2-CMD, STAT3, FAK, diferenciação, Teses de mestrado - 2023, Departamento de Biologia Vegetal

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10451/63782Test

المؤلفون: Natalia Diaz-Lombana, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Harry Pachajoa

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: case report, congenital muscular dystrophy type 1A, laminin subunit alpha 2 LAMA2, rare diseases, mutation, exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1158350/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/981173fbd9d449539f860c9123151706Test

المؤلفون: Yuqing Xu, Linyan Zhu, Yeqing Qian, Minyue Dong

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: LAMA2, LAMA2-related CMD, limb girdle muscular dystrophy 23, whole exome sequencing, LamG domain, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1191068/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/1315f07e09c84206ac580978173d65d4Test

المؤلفون: Van Khanh Tran, Ngoc-Lan Nguyen, Lan Ngoc Thi Tran, Phuong Thi Le, Anh Hai Tran, Tuan L. A. Pham, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Tat Thanh, Thanh Van Ta, Thinh Huy Tran, Huy-Hoang Nguyen

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: merosin-deficient congenital muscular dystrophy type 1A, MDC1A, LAMA2 gene, Vietnamese, congenital muscular dystrophy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1183663/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/00fc6956be4d4d9eaf9b0684d9146f12Test

المؤلفون: Camerun Washington, Elliot S. Stolerman, Jessica A. Cooley‐Coleman, Julie R. Jones, Xiangwen Chen‐Deutsch

المصدر: Clinical Case Reports, Vol 11, Iss 4, Pp n/a-n/a (2023)

مصطلحات موضوعية: dual diagnosis, genome sequencing, incontinentia pigmenti, LAMA2, muscular dystrophy, RNA analysis, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/1233e6e68d2047238b075f40b6888786Test

المؤلفون: Duo-Zi Wang, Bing-Hu Li, Qiong Ma, Zhou Yu, Kai Chen, Ying He, Song Tan

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: limb-girdle muscular dystrophy, LAMA2, merosin, case report, MDC1A, LGMDR23, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1078151/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/aa4837e951ef49bc9228c989765e48dcTest