المؤلفون: E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, Nicol C. Voermans

المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: SELENON, SEPN1, LAMA2, Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), Natural history, Follow-up, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/e37f4d0091164ff29b157e0a38585486

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1183663/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/00fc6956be4d4d9eaf9b0684d9146f12

المؤلفون: Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: LAMA2, Laminin subunit α2 deficiency, Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), SELENON, SEPN1, Natural history, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d

المؤلفون: Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: LAMA2 gene, Merosin-deficient congenital muscular dystrophy type 1A, NGS analysis, Nonsense mutation, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/1e269c2d80634cc7a78c86be9f9b1a76

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, Vol 10 (2019)

مصطلحات موضوعية: muscular dystrophy, multiplex ligation-dependent probe amplification, next-generation sequencing, dystrophin (DMD), merosin-deficient congenital muscular dystrophy type 1A, LAMA2, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fphar.2019.00814/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/1b2b9a44f009437f999be8d573109764

المؤلفون: Wood, Alasdair J., Cohen, Naomi, Joshi, Veronica, Li, Mei, Costin, Adam, Hersey, Lucy, McKaige, Emily A., Manneken, Jessica D., Sonntag, Carmen, Miles, Lee, Siegel, Ashley, Currie, Peter D.

المصدر: Wood , A J , Cohen , N , Joshi , V , Li , M , Costin , A , Hersey , L , McKaige , E A , Manneken , J D , Sonntag , C , Miles , L , Siegel , A & Currie , P D 2019 , ' RGD inhibition of itgb1 ameliorates laminin-a2 deficient zebrafish fibre pathology ' , Human Molecular Genetics , vol. 28 , no. 9 , pp. 1403-1413 . https://doi.org/10.1093/hmg/ddy426

مصطلحات موضوعية: integrins, basement membrane, collagen, laminin, larva, peptides, zebrafish, pathology, merosin-deficient congenital muscular dystrophy

وصف الملف: application/pdf

الاتاحة: https://research.monash.edu/en/publications/002821e1-6369-4184-a2d3-040ac92dbe4e
https://doi.org/10.1093/hmg/ddy426
https://researchmgt.monash.edu/ws/files/275032023/259293927_oa.pdf

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

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, merosin-deficient congenital muscular dystrophy type 1A, MDC1A, LAMA2 gene, Vietnamese, congenital muscular dystrophy

Relation: https://figshare.com/articles/dataset/Table2_Merosin-deficient_congenital_muscular_dystrophy_type_1a_detection_of_LAMA2_variants_in_Vietnamese_patients_DOCX/23513517

الاتاحة: https://doi.org/10.3389/fgene.2023.1183663.s002
https://figshare.com/articles/dataset/Table2_Merosin-deficient_congenital_muscular_dystrophy_type_1a_detection_of_LAMA2_variants_in_Vietnamese_patients_DOCX/23513517

المؤلفون: Hyo Jeong Kim, Young-Chul Choi, Hyung Jun Park, Young-Mock Lee, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang

المصدر: Korean Journal of Pediatrics, Vol 57, Iss 3, Pp 149-152 (2014)

مصطلحات موضوعية: Merosin-deficient congenital muscular dystrophy, Laminin alpha2, Immunohistochemistry, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://kjp.or.kr/upload/pdf/kjped-57-149.pdf; https://doaj.org/toc/1738-1061; https://doaj.org/toc/2092-7258

URL الوصول: https://doaj.org/article/ccbd9810b472412c8ccf45e8156c085d

المؤلفون: Jos M. T. Draaisma, Jonne Doorduin, Nicol C. Voermans, Florence H J van Tienen, Hubert J.M. Smeets, Baziel G.M. van Engelen, Jan A.M. Smeitink, Nens van Alfen, Saskia Koene, Benno Küsters, Willem C M van Tilburg, Mirian C. H. Janssen, Floris E A Udink Ten Cate, Corrie E. Erasmus, Robin Nijveldt, Anne T. M. Dittrich, Karlijn Bouman, Frederik M. A. van den Heuvel, Jan T. Groothuis, Stan Buckens, Esmee S.B. Van Kleef, Erik-Jan Kamsteeg

المساهمون: RS: MHeNs - R3 - Neuroscience, Toxicogenomics, RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: FHML MaCSBio

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)
BMC Neurology, 21
BMC Neurology
BMC Neurology, 21, 1
BMC Neurology, 21(1):313. BioMed Central Ltd

مصطلحات موضوعية: Pediatrics, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Outcome measures, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Muscular Dystrophies, Pulmonary function testing, Study Protocol, Outcome Assessment, Health Care, Laminin subunit α2 deficiency, SEPN1, Prospective Studies, Muscular dystrophy, OXIDATIVE STRESS, Child, ULTRASOUND, SELENOPROTEIN-N, medicine.diagnostic_test, All ages, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, RELIABILITY, Congenital muscular dystrophy, medicine.symptom, Natural history study, SKELETAL-MUSCLE PATHOLOGY, CLINICAL-TRIALS, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Trial readiness, QUESTIONNAIRE, Natural history, DUCHENNE DYSTROPHY, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Neurological examination, VALIDATION, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], All institutes and research themes of the Radboud University Medical Center, medicine, Humans, LAMA2, Myopathy, SELENON, RC346-429, Laminin subunit a2 deficiency, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), medicine.disease, Congenital myopathy, REFERENCE VALUES, Clinical trial, Neurology (clinical), Laminin, Neurology. Diseases of the nervous system, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082c4be5cfdce3bc0565bf9172f1431e
https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d

المؤلفون: P. A. Chausova, Alexander V. Polyakov, O. A. Shchagina, G. E. Rudenskaya, V. B. Chernykh, O. P. Ryzhkova

المصدر: Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics

مصطلحات موضوعية: Genetics, congenital muscular dystrophy, Mutation, Massive parallel sequencing, MPS, Direct sequencing, Case Report, merosine, Disease, QH426-470, Biology, medicine.disease, medicine.disease_cause, Molecular diagnostics, molecular diagnostics, merosine deficient congenital muscular dystrophy, mosaicism, Congenital muscular dystrophy, medicine, Molecular Medicine, LAMA2, Gene, Merosin deficient congenital muscular dystrophy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbd8030b5a9247c8f1532d1509ecb07d

المؤلفون: Muzaffer Polat, Sırrı Çam, Senem Ayça, Hamide Betül Gerik Çelebi

المصدر: Haseki Tıp Bülteni, Vol 58, Iss 2, Pp 208-210 (2020)

مصطلحات موضوعية: Genetics, muscular dystrophy, lcsh:R5-920, business.industry, white matter hyperintensity, lcsh:R, lcsh:Medicine, General Medicine, Frameshift mutation, Pediatrics, Perinatology and Child Health, merosin, Medicine, Neurology (clinical), business, lcsh:Medicine (General), Merosin deficient congenital muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d433837eeabe35d459efe56e80df92a5
https://doaj.org/article/74a26140879b43348bd0a57088c2afd3

المؤلفون: Ana Pinto Carneiro, Jorge Pelicano Paulos, Catarina Cruz, Vanessa Artilheiro

المصدر: Brazilian Journal of Anesthesiology (English Edition).

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine.medical_treatment, General Medicine, Perioperative, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Intravenous anesthesia, 030202 anesthesiology, medicine, Restrictive lung disease, Airway management, Muscular dystrophy, business, Airway, Difficult airway, Merosin deficient congenital muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::65722f6e551448d05456a0f0d4a95a7d
https://doi.org/10.1016/j.bjane.2021.03.018

المؤلفون: Hubert J.M. Smeets, Bram Verbrugge, Pierre Springuel, Nicol C. Voermans, Giulio Cossu, René de Coo, Christos Diamantidis, Eric Dragendorf, Madeleine Durbeej-Hjalt, Gustavo Dziewczapolski, Corrie Erasmus, Reghan Foley, Sweta Girgenrath, Leonardo Zingler Herrero, Dwi Kemaladewi, Andrea Klein, Marie-Julie Lemmens, Lotte van de Loo, Stefano Previtali, Markus Ruegg, Adnan Abdulaziz Said, Maurilio Sampaolesi, Anna Sarkozy, Hemant Sawnani, Dirk Jan Stelwagen, Heleen Stelwagen, Haluk Topaloglu, Florence van Tienen, Peter Yurchenco, Teun van Zutphen

المساهمون: Sampaolesi, Maurilio, Toxicogenomics, RS: FHML MaCSBio, RS: MHeNs - R3 - Neuroscience, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Neuromuscular Disorders, 31, 7, pp. 673-680
Neuromuscul Disord
Neuromuscular Disorders, 31, 673-680
Neuromuscular Disorders, 31(7), 673-680. Elsevier Science

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], MOUSE MODEL, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Article, Natural history, All institutes and research themes of the Radboud University Medical Center, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical), Merosin deficient congenital muscular dystrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead2139118facb2b6f3bd879c7e524de
https://repository.ubn.ru.nl/handle/2066/236903

المؤلفون: Pai Ashutosh A

المصدر: Journal of Medical Science And clinical Research.

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Radiological weapon, Medicine, business, Merosin deficient congenital muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a8a93051f44b5493a7ad571e51c78092
https://doi.org/10.18535/jmscr/v8i4.64

المؤلفون: Chae, Jong-Hee, Lee, Jin Sook, Hwang, Hee, Kim, Ki Joong, Hwang, Yong Seung, Park, June Dong, Cheon, Jung-Eun, Kim, In-One, Choe, Ghee Young, Park, Sung Hye

المساهمون: 채종희, 이진숙, 황희, 김기중, 황용승, 박준동, 전정은, 김인원, 최기영, 박성혜

مصطلحات موضوعية: Merosin-deficient congenital muscular dystrophy, Brain MRI, Skin biopsy

Relation: Brain Dev 2008;31:341-6; 0387-7604 (print); 1872-7131 (online); http://www.elsevier.com/locate/braindev; http://hdl.handle.net/10371/4455

الاتاحة: http://hdl.handle.net/10371/4455
http://www.elsevier.com/locate/braindev
https://doi.org/10.1016/j.braindev.2008.06.009

المساهمون: Kang, Seong Woong, Kim, Tai Seung, Choi, Young Chul

المصدر: T200401130.pdf

مصطلحات موضوعية: Merosin-deficient congenital muscular dystrophy, Laminin 慣2

وصف الملف: 680~682

Relation: Journal of the Korean Neurological Association; J01835; OAK-2004-01031; https://ir.ymlib.yonsei.ac.kr/handle/22282913/112509; T200401130; Journal of the Korean Neurological Association, Vol.22(6) : 680-682, 2004

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/112509

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://bbs.neuro.or.kr/space/journal/2004/200406023.pdf.

مصطلحات موضوعية: Key Words, Merosin-deficient congenital muscular dystrophy, Laminin α2

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.497.5350; http://bbs.neuro.or.kr/space/journal/2004/200406023.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.497.5350
http://bbs.neuro.or.kr/space/journal/2004/200406023.pdf

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6039e7ade794474fe5d3ac2609cae0ed
https://doi.org/10.3892/br.2019.1260

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5131dd8815fe97081840bb0cc0ec5a0a
https://pubmed.ncbi.nlm.nih.gov/31404137

المؤلفون: Rakesh Kumar Vasishta, Balan Louis Gaspar, Bishan Dass Radotra

المصدر: Myopathology ISBN: 9789811314612

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.anatomical_structure, Hereditary inclusion body myopathy, business.industry, Etiology, Medicine, Skeletal muscle, Disease, business, medicine.disease, Pathological, Merosin deficient congenital muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d4a41ca6ad0a38a2d1137dd25ef77d55
https://doi.org/10.1007/978-981-13-1462-9_7