-
1
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 -
2
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 -
3
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 -
4
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 -
5
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 -
6
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 -
7
المؤلفون: Dong Wang, Min Gao, Kaihui Zhang, Ruifeng Jin, Yuqiang Lv, Yong Liu, Jian Ma, Ya Wan, Zhongtao Gai, Yi Liu
المصدر: Frontiers in Pharmacology
Frontiers in Pharmacology, Vol 10 (2019)مصطلحات موضوعية: 0301 basic medicine, Proband, musculoskeletal diseases, muscular dystrophy, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetic counseling, Compound heterozygosity, merosin-deficient congenital muscular dystrophy type 1A, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, medicine, Pharmacology (medical), Multiplex ligation-dependent probe amplification, Muscular dystrophy, LAMA2, multiplex ligation-dependent probe amplification, Original Research, Genetics, Pharmacology, business.industry, Point mutation, lcsh:RM1-950, medicine.disease, 030104 developmental biology, lcsh:Therapeutics. Pharmacology, 030220 oncology & carcinogenesis, Medical genetics, next-generation sequencing, business, dystrophin (DMD)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5131dd8815fe97081840bb0cc0ec5a0aTest
https://pubmed.ncbi.nlm.nih.gov/31404137Test -
8
المؤلفون: Maria Elena Silva, Simona Lange, Bryan Hinrichsen, Amber R. Philp, Carolina R. Reyes, Diego Halabi, Josselyne B. Mansilla, Peter Rotheneichner, Alerie Guzman de la Fuente, Sebastien Couillard-Despres, Luis F. Bátiz, Robin J. M. Franklin, Ludwig Aigner, Francisco J. Rivera
المساهمون: Franklin, Robin [0000-0001-6522-2104], Apollo - University of Cambridge Repository
المصدر: Frontiers in Cellular Neuroscience
Frontiers in Cellular Neuroscience, Vol 13 (2019)مصطلحات موضوعية: 0301 basic medicine, vascular niche, Library science, Lama2, Brief Research Report, pericytes, lcsh:RC321-571, 3. Good health, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, remyelination, nervous system, oligodendrogenesis, Political science, media_common.cataloged_instance, Vascular niche, Christian ministry, European union, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030217 neurology & neurosurgery, media_common, Neuroscience, neural stem cells
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6688205040fcd2b8162c8330b9b3ea9aTest
https://pubmed.ncbi.nlm.nih.gov/30971893Test -
9
المصدر: Diagnostics
Diagnostics, Vol 10, Iss 741, p 741 (2020)مصطلحات موضوعية: 0301 basic medicine, Prioritization, Clinical Biochemistry, Case Report, Vietnamese, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, c.778C>T, LAMA2 variants, medicine, Missense mutation, c.2987G>A, Muscular dystrophy, Gene, Exome sequencing, Genetics, Sanger sequencing, lcsh:R5-920, c.778C&, medicine.disease, Structure and function, 030104 developmental biology, gt, symbols, WES, Immunohistochemistry, lcsh:Medicine (General), 030217 neurology & neurosurgery, LAMA2-related muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca613e2d6e797c432806806bf290c5d8Test
https://doi.org/10.3390/diagnostics10100741Test -
10
المصدر: Toxicology Reports
Toxicology Reports, Vol 3, Iss, Pp 414-426 (2016)مصطلحات موضوعية: PRODH, proline dehydrogenase, VWF, Von Willebrand Factor, CCNG1, cyclin G1, CCNA2, cyclin A2, CDCA2, cell division cycle associated 2, Toxicology, ID1, inhibitor of DNA binding 1, MIF, macrophage migration inhibitory factor, HPSE, heparanase, TPO, thyroid peroxidase, NUBP1, nucleotide binding protein 1, RAN, ras-related nuclear protein, ADA, adenosine Deaminase, Thyroid, CD46, CD46 molecule, TSN, translin, PTGS1, prostaglandin-endoperoxide synthase 1, PLK1, polo-like kinase 1, PINK1, PTEN induced putative kinase 1, Acrylamide, ADRB2, adrenergic, medicine.medical_specialty, KIF20B, kinesin family member 20B, TSHR, thyroid stimulating hormone receptor, Follicular cell, Article, BRIP1, BRCA1 Interacting Protein C-Terminal Helicase 1, 03 medical and health sciences, CDCA5, cell division cycle associated 5, GOLGA3, golgin A3, Transcriptomics, C5, complement Component 5, GCG, glucagon, lcsh:Toxicology. Poisons, DAD1, defender against cell death 1, DNMT3A, DNA (cytosine-5-)-methyltransferase 3 alpha, CFB, complement factor B, NPPC, natriuretic peptide precursor C, PRL, prolactin, CD45, protein tyrosine phosphatase, Prolactin, CTLA4, cytotoxic T-lymphocyte-associated protein 4, 030104 developmental biology, Endocrinology, chemistry, LAMA2, laminin, alpha 2, SCL5A5, solute carrier family 5 (sodium iodide symporter), MCM8, minichromosome maintenance complex component 8, Hormone, 0301 basic medicine, HSPB1, heat shock 27 KDa protein, NPY, neuropeptide, TACC3, transforming, Health, Toxicology and Mutagenesis, TFRC, transferrin receptor, KLK1, kallikrein 1, TBCB, tubulin folding cofactor B, medicine.disease_cause, DCTPP1, DCTP pyrophosphatase 1, PDE3A, phosphodiesterase 3A, chemistry.chemical_compound, RAB5A, RAB5A, KIF22, kinesin family Member 22, MIS18A, MIS18 kinetochore protein A, SPAG8, sperm associated antigen 8, HSPA5, heat shock 70 kDa protein 5, TOP2A, topoisomerase (DNA) II alpha, Triiodothyronine, PTGIS, prostaglandin I2 (prostacyclin) synthase, C1QTNF3, C1q and Tumor Necrosis Factor Related Protein 3, HTATIP2, HIV-1 tat interactive protein 2, NDC80, NDC80 kinetochore complex component, INHBA, inhibin, medicine.anatomical_structure, RccHan Wistar, CARD9, caspase recruitment domain family, IL1B, interleukin 1, Sample collection, PLCD1, phospholipase C, CDC45, cell division cycle 45, Biology, GSTP1, glutathione S-transferase Pi 1, IGF2, Insulin-like growth factor 2 (somatomedin A), POMC, proopiomelanocortin, SELP, selectin P (granule membrane protein 140 kDa, lcsh:RA1190-1270, Internal medicine, medicine, ORC1, origin recognition complex, DUOX2, dual oxidase 2, RRM2, ribonucleotide reductase M2, IYD, iodotyrosine deiodinase, CENPT, centromere protein T, GCLC, glutamate-cysteine ligase, HSPH1, heat shock 105 kDa/110 kDa protein 1, BUB1B, BUB1 Mitotic Checkpoint Serine/Threonine Kinase B, CGA, glycoprotein hormones, HSPB2, heat shock 27 kDa protein 2, PRKAA2, protein kinase, ASF1B, anti-Silencing Function 1B Histone Chaperone, GSTM1, glutathione S-transferase Mu 1, CALCR, calcitonin receptor, Oxidative stress
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4e12b08f21dfc658b4cacd91f9295efTest
https://doi.org/10.1016/j.toxrep.2016.03.009Test
