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المؤلفون: Mohammad Azfar Qureshi, Saidah Hack, Bernard Davenport, York Pei, Moumita Barua, Rachel Lennon, Poornima Vijayan, Tony Yao, Andrew D. Paterson, Rohan John
المصدر: BMC Nephrology
BMC Nephrology, Vol 22, Iss 1, Pp 1-6 (2021)مصطلحات موضوعية: Male, Basement membrane, Heterozygote, Candidate gene, medicine.medical_specialty, Hereditary FSGS, Chromosome Disorders, Mesangial hypercellularity, Disease, urologic and male genital diseases, Kidney, Nephropathy, Protein-Lysine 6-Oxidase, Genetic linkage, Internal medicine, Exome Sequencing, medicine, Humans, Genetic Testing, LAMA2, Age of Onset, Gene, Exome sequencing, Aged, Genetics, Glomerulosclerosis, Focal Segmental, business.industry, Glomerular basement membrane, Middle Aged, medicine.disease, Diseases of the genitourinary system. Urology, Pedigree, medicine.anatomical_structure, Nephrology, LOXL4, Mutation, Female, RC870-923, Laminin, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c815c8677e57d8048ec6baf503d8816bTest
https://doi.org/10.1186/s12882-021-02524-6Test -
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المؤلفون: Bing Mao, Dandan Tan, Bo Jin, Kai Gao, Chunde Li, Haipo Yang, Ying Zhu, Xiru Wu, Cuijie Wei, Zhen Huang, Shuo Wang, Anne Rutkowski, Xingzhi Chang, Yuwu Jiang, Xiaoli Zhang, Xueying Li, Ying Hua, Hui Xiong, Shuang Wang, Carsten G. Bönnemann, Juan Ding, Yanbin Fan, Yanjuan Wang, Lin Ge, Aijie Liu, Yun Yuan, Bingbing Zhang, Wenhua Zhu, Chengli Que, Cheng Zhang
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, China, medicine.medical_specialty, DNA Copy Number Variations, Genotype, Natural history, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Pharmacology (medical), Copy-number variation, LAMA2, Muscular dystrophy, Child, Genetics (clinical), Muscle contracture, business.industry, Research, Infant, General Medicine, medicine.disease, Rare diseases, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Cohort, Congenital muscular dystrophy, Medicine, Laminin, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::642ffa1ffae7089628b96b49ba686101Test
https://doi.org/10.1186/s13023-021-01950-xTest -
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المؤلفون: Ljelja Muaremoska Kanzoska, Duma, Filip, Dukovska, Valentina, Angelkova, Natalija, Useini, Shpresa Muaremoska, Mevmed Djaferi, Radevska, Ana Karandjinska
مصطلحات موضوعية: LAMA2 associated muscular dystrophy, genetic testing of clinically relevant genes, genetic counseling
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5484a504dcbafd5a727a5e6b410b4abeTest
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المؤلفون: Ilham Ratbi, Youssef El Kadiri, Jaber Lyahyai, Yamna Kriouile, Abdelaziz Sefiani, Fatima Zahra Laarabi
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)
BMC Medical Genomicsمصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Nonsense mutation, LAMA2 gene, QH426-470, Muscular Dystrophies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Case report, Genetics, medicine, Merosin-deficient congenital muscular dystrophy type 1A, Internal medicine, Genetics (clinical), Sanger sequencing, Psychomotor retardation, business.industry, NGS analysis, Muscle weakness, medicine.disease, RC31-1245, Human genetics, 030104 developmental biology, Mutation (genetic algorithm), Congenital muscular dystrophy, symbols, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9baa18c0dde4b68f38f1a3abb2b62a9aTest
https://doi.org/10.1186/s12920-021-00959-2Test -
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المصدر: Frontiers in Molecular Neuroscience
Frontiers in Molecular Neuroscience, Vol 13 (2020)مصطلحات موضوعية: 0301 basic medicine, Weakness, phenotype, Review, Bioinformatics, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, LAMA2, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Molecular Biology, Muscle contracture, Muscle biopsy, medicine.diagnostic_test, business.industry, biomarkers, clinical trial, medicine.disease, Hypotonia, Muscle atrophy, Clinical trial, 030104 developmental biology, natural history, Congenital muscular dystrophy, Biomarker (medicine), medicine.symptom, business, 030217 neurology & neurosurgery, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38f1e650818fdc1a0e686348a2cf227fTest
https://doi.org/10.3389/fnmol.2020.00123Test -
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المؤلفون: Francesca, Magri, Roberta, Brusa, Luca, Bello, Lorenzo, Peverelli, Roberto, Del Bo, Alessandra, Govoni, Claudia, Cinnante, Irene, Colombo, Francesco, Fortunato, Roberto, Tironi, Stefania, Corti, Nadia, Grimoldi, Monica, Sciacco, Nereo, Bresolin, Elena, Pegoraro, Maurizio, Moggio, Giacomo Pietro, Comi
المصدر: Acta Myologica
مصطلحات موضوعية: Adult, Male, leukoencephalopathy, brain MRI, Middle Aged, LAMA2 gene, Pedigree, Italy, Muscular Dystrophies, Limb-Girdle, Mutation, merosin, Humans, Female, Original Article, Laminin, limb girdle muscular dystrophy, Aged, muscle MRI
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::715a0a1bc774394eee5dbd4d6883d270Test
https://pubmed.ncbi.nlm.nih.gov/32904964Test -
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المؤلفون: Xuenan Liu, Yuan Zhu, Yunsong Liu, Ranli Gu, Ping Zhang, Xiao Zhang, Siyi Wang, Dandan Xia, Zheng Li, Xiaomin Lian, Yongsheng Zhou
المصدر: Stem Cell Research & Therapy
Stem Cell Research & Therapy, Vol 11, Iss 1, Pp 1-10 (2020)مصطلحات موضوعية: Medicine (miscellaneous), Hedgehog signaling, Inflammation, Biology, Biochemistry, Genetics and Molecular Biology (miscellaneous), lcsh:Biochemistry, Human mesenchymal stem cells, Osteogenesis, Osteogenic differentiation, medicine, Humans, lcsh:QD415-436, Hedgehog Proteins, LAMA2, Bone regeneration, Cells, Cultured, lcsh:R5-920, Adipogenesis, Research, Mesenchymal stem cell, Cell Differentiation, Mesenchymal Stem Cells, Cell Biology, In vitro, Hedgehog signaling pathway, Cell biology, medicine.anatomical_structure, Molecular Medicine, Laminin, Bone marrow, medicine.symptom, Stem cell, lcsh:Medicine (General)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d81ab8bf1d8845b082996f249064238Test
https://doi.org/10.1186/s13287-020-01631-9Test -
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المؤلفون: Francesc Palau, Daniel Natera-de Benito, Alexis Arzimanoglou, Javier Aparicio, Lidia Gonzalez-Quereda, J. Domínguez-Carral, Cecilia Jimenez-Mallebrera, Cristina Jou, Pia Gallano, Jaume Colomer, A. Codina, Nathalia Pardo Cardozo, Andrés Nascimento, Carlos Ortez, D. Itzep, Jessica Expósito-Escudero, Daniel Cuadras, Victoria San Antonio-Arce, Jordi Muchart, Laura Carrera-García, Alia Ramirez
المصدر: Epilepsia
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
EPILEPSIA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauمصطلحات موضوعية: Male, 0301 basic medicine, Pathology, MDC1A, Electroencephalography, Muscular Dystrophies, Epilepsy, 0302 clinical medicine, Polymicrogyria, merosin, EEG, Age of Onset, Muscular dystrophy, Child, seizures, medicine.diagnostic_test, Brain, LAMA2, epilepsy, Magnetic Resonance Imaging, Phenotype, Neurology, Child, Preschool, Vomiting, Anticonvulsants, Female, medicine.symptom, medicine.medical_specialty, Adolescent, Neuroimaging, Young Adult, 03 medical and health sciences, medicine, Humans, Muscle biopsy, Electromyography, business.industry, Infant, medicine.disease, 030104 developmental biology, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c1ebcf6342c2db7adcde2efd670043Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17575Test -
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المؤلفون: Liem Thanh Nguyen, Kien Trung Tran, Chinh Duy Vu, Vinh Sy Le
المصدر: Biomedical Reports
مصطلحات موضوعية: 0301 basic medicine, Proband, de novo, LAMA2 gene, merosin deficient congenital muscular dystrophy type 1A, General Biochemistry, Genetics and Molecular Biology, whole exome sequencing, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Medicine, Missense mutation, General Pharmacology, Toxicology and Pharmaceutics, Muscular dystrophy, Gene, Exome sequencing, Muscle contracture, Genetics, Sanger sequencing, business.industry, General Neuroscience, Articles, General Medicine, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6039e7ade794474fe5d3ac2609cae0edTest
https://doi.org/10.3892/br.2019.1260Test -
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المؤلفون: Sheryl S. Moy, Juan Li, Chunping Qiao, Jianbin Li, Bin Xiao, Viktoriya D. Nikolova, Xiao Xiao, Quan Jin, Yi Dai
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 9, Iss, Pp 47-56 (2018)
Molecular Therapy. Methods & Clinical Developmentمصطلحات موضوعية: muscular dystrophy, 0301 basic medicine, Nervous system, Pathology, medicine.medical_specialty, lcsh:QH426-470, Genetic enhancement, Article, 03 medical and health sciences, Transduction (genetics), 0302 clinical medicine, CMD, Heterotrimeric G protein, mini-agrin, Genetics, Medicine, LAMA2, lcsh:QH573-671, Muscular dystrophy, Molecular Biology, Basement membrane, Agrin, lcsh:Cytology, business.industry, Skeletal muscle, AAV, medicine.disease, gene therapy, 3. Good health, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, nervous system, Molecular Medicine, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac71492d5dff92a331e39cb0e7d3d7aeTest
https://doi.org/10.1016/j.omtm.2018.01.005Test
