المؤلفون: Can Thi Bich Ngoc, Ngoc-Lan Nguyen, Huy Hoang Nguyen, Thi Thu Huong Nguyen, Chi Dung Vu

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

المؤلفون: Lokesh Lingappa, Kaumudi Konkay, Meena A Kannan, Megha S Uppin, Sundaram Challa

المصدر: Annals of Indian Academy of Neurology
Annals of Indian Academy of Neurology, Vol 19, Iss 3, Pp 356-359 (2016)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, laminin α2 (LAMA2), H&E stain, lcsh:RC346-429, Laminin, medicine, merosin, Muscular dystrophy, lcsh:Neurology. Diseases of the nervous system, Muscle biopsy, Sarcolemma, biology, medicine.diagnostic_test, business.industry, medicine.disease, Hypotonia, Congenital muscular dystrophies (CMDs), inflammation, biology.protein, Congenital muscular dystrophy, Immunohistochemistry, Original Article, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64a7f21309be48b9eb36c6ba25962746Test
http://europepmc.org/articles/PMC4980959Test

المؤلفون: Benjamin Hansen, Nancy D. Denslow, Marvin A. Friedman, Reyna Cristina Colli-Dula

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

المؤلفون: Oliveira, J., Gruber, A., Cardoso, M., Taipa, R., Fineza, I., Goncalves, A., Laner, A., Winder, T.L., Schroeder, J., Rath, J., Oliveira, M.E., Vieira, E., Sousa, A.P., Vieira, J.P., Lourenco, T., Almendra, L., Negrao, L., Santos, M., Melo-Pires, M., Coelho, T., Dunnen, J.T. den, Santos, R., Sousa, M.

المصدر: Human Mutation

مصطلحات موضوعية: congenital, LAMA2, laminin-alpha 2, locus-specific database, muscular dystrophy, mutation update

العلاقة: lumc-id: 57307712; https://hdl.handle.net/1887/96103Test

الإتاحة: https://doi.org/10.1002/humu.23599Test
https://hdl.handle.net/1887/96103Test

المؤلفون: Sframeli, Maria

مصطلحات موضوعية: Congenital muscular dystrophy, dystroglycanopathies, POMT2, SYNE1, ISPD, GMPPB, B3GALTN2,LAMA2, Settore MED/38 - Pediatria Generale e Specialistica, Congenital muscular dystrophy, SYNE1, ISPD, POMT2, GMPPB, dystroglycanopathies, LAMA2, B3GALTN2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3978::5161ab8fab88920489cdcdcbf1273bc1Test
http://hdl.handle.net/11570/3129043Test

المؤلفون: Ding, Juan, Zhao, Dandan, Du, Renqian, Zhang, Yuehua, Yang, Haipo, Liu, Jieyu, Yan, Chuanzhu, Zhang, Feng, Xiong, Hui

المساهمون: Xiong, H (reprint author), Peking Univ, Dept Pediat, Hosp 1, 1 Xian Men St, Beijing 100034, Peoples R China., Peking Univ, Dept Pediat, Hosp 1, 1 Xian Men St, Beijing 100034, Peoples R China., Shandong Univ, Qilu Hosp, Dept Neurol, Jinan 250012, Peoples R China., Fudan Univ, Sch Life Sci, Shanghai 200433, Peoples R China.

المصدر: SCI ; PubMed

مصطلحات موضوعية: LAMA2, Limb-girdle muscular dystrophy, The next generation sequencing, Multiplex ligation dependent probe amplification, Array comparative genomic hybridization, LAMA2 MUTATIONS, PERIPHERAL NEUROPATHY, LAMININ, PHENOTYPE, SPECTRUM

العلاقة: BRAIN & DEVELOPMENT.2016,38,(2),242-249.; 1298097; http://hdl.handle.net/20.500.11897/418303Test; WOS:000368973200010

الإتاحة: https://doi.org/20.500.11897/418303Test
https://doi.org/10.1016/j.braindev.2015.08.005Test
https://hdl.handle.net/20.500.11897/418303Test

المصدر: Bonnemann CG, RutkowskA, MercurE, MuntonF; CMD Outcomes Consortm. 173rd ENMC ternatnal Workshop: congenal muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands. Neuromuscul Dord. 2011 Jul;21(7):513-22. do 10.1016/j.nmd.2011.04.004. Epub 2011 Jun 8. No abstract avaable.
Wang CH, Bonnemann CG, RutkowskA, Sejersen T, BellJ, Battta V, Florence JM, Schara U, Schuler PM, WahbK, Aloyss A, Bash RO, Beroud C, BertE, Bushby K, Cohn RD, Connolly AM, Deconck N, Desguerre Eagle M, Estournet-Mathud B, Ferreo A, Fujak A, Goemans N, nnaccone ST, Jouot P, Ma M, MelacP, Mueller-Felber W, MuntonF, Nelson LL, Rahbek J, Quano-Roy S, Sewry C, Storhaug K, Sonds A, Tseng B, Vajsar J, Vnello A, Zeller R; ternatnal Standard of Care Commtee for Congenal Muscular Dystrophy. Consensus statement on standard of care for congenal muscular dystrophs. J Chd Neurol. 2010 Dec;25(12):1559-81. do 10.1177/0883073810381924. Epub 2010 Nov 15.
Sparks SE, Quano-Roy S, Harper A, RutkowskA, Gordon E, Hoffman EP, Pegoraro E. Congenal Muscular Dystrophy Overvw - RETED CHAPTER, FOR HTORAL REFERENCE ONLY. 2001 Jan 22 [updated 2012 Aug 23]. : Adam MP, Feldman J, Mzaa GM, Pagon RA, Wallace SE, Bean LJH, Grp KW, Amema A, edors. GeneRevws(R) [ternet]. Seattle (WA): Unersy of Washgton, Seattle; 1993-2024. Avaable from http://www.ncbnlm.n.gov/books/NBK1291Test/
Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Me R, Abbs S, Brueton L, Chds AM, Jungbluth H, De Goede CG, Lynch B, L JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, MuntonF. Genotype-phenotype correlatn a large populatn of muscular dystrophy patnts wh LAMA2 mutatns. Neuromuscul Dord. 2010 Apr;20(4):241-50. do 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6.
Sewry CA, Jenez-Mallebrera C, MuntonF. Congenal myopaths. Curr Op Neurol. 2008 Oct;21(5):569-75. do 10.1097/WCO.0b013e32830f93c7.
Kle A, Clement E, MercurE, MuntonF. Dferentl dgnos of congenal muscular dystrophs. Eur J Paedtr Neurol. 2008 Sep;12(5):371-7. do 10.1016/j.ejpn.2007.10.002. Epub 2007 Dec 3.
Godfrey C, Clement E, Me R, Brockgton M, Smh J, Tal B, Straub V, Robb S, Qulan R, Feng L, Jenez-Mallebrera C, MercurE, Manzur AY, KalM, TorellS, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, MuntonF. Refg genotype phenotype correlatns muscular dystrophs wh defecte glycosylatn of dystroglycan. Bra. 2007 Oct;130(Pt 10):2725-35. do 10.1093/bra/awm212. Epub 2007 Sep 18.
RamellGP, Aloyss A, Kg C, Dav T, MuntonF. Gastrostomy placement paedtr patnts wh neuromuscular dorders: datns and outcome. Dev Med Chd Neurol. 2007 May;49(5):367-71. do 10.1111/j.1469-8749.2007.00367.x.
Mells U, Dohna-Schwake C, Vo T. Respatory functn assessment and terventn neuromuscular dorders. Curr Op Neurol. 2005 Oct;18(5):543-7. do 10.1097/01.wco.0000180662.03544.5f.
Takaso M, Nakazawa T, ura T, Okada T, Ueno M, Sao W, TakahashK, YamazakM, OhtorS. Surgal correctn of spal deformy patnts wh congenal muscular dystrophy. J Orthop Sc 2010 Jul;15(4):493-501. do 10.1007/s00776-010-1486-9. Epub 2010 Aug 19.
Schara U, Kress W, Bonnemann CG, Brebach-Faller N, Korenke CG, Schreer G, Stoetter M, Ferreo A, von der Hagen M. The phenotype and long-term follow-up 11 patnts wh juvene selenoprote N1-related myopathy. Eur J Paedtr Neurol. 2008 May;12(3):224-30. do 10.1016/j.ejpn.2007.08.011. Epub 2007 Oct 22.
Nadeau A, KalM, Ma M, Jenez-Mallebrera C, Aloyss A, Clement E, North B, Manzur AY, Robb SA, MercurE, MuntonF. Natural htory of Ullrh congenal muscular dystrophy. Neurology. 2009 Jul 7;73(1):25-31. do 10.1212/WNL.0b013e3181aae851.
van den Engel-Hoek L, Erasmus CE, de Swart BJ, S LT, de Groot . Neonatal swallowg assessment and practal recommendatns for oral feedg a gl wh a severe congenal myopathy. J Chd Neurol. 2011 Aug;26(8):1041-4. do 10.1177/0883073811402071. Epub 2011 May 3.
Sao Y, KomakH, HattorA, TakeuchF, SasakM, Kawabata K, MsuhashS, Tomaga K, HayashYK, Nowak KJ, Lag NG, Nonaka Nho Extramuscular manestatns chdren wh severe congenal myopathy due to ACTA1 gene mutatns. Neuromuscul Dord. 2011 Jul;21(7):489-93. do 10.1016/j.nmd.2011.03.004. Epub 2011 Apr 21.
Congenital Muscle Disease Patient and Proxy Reported Outcome Study

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT01403402Test

Other URLs: http://www.cmdir.orgTest

المؤلفون: Xiong, H., Tan, D., Wang, S., Song, S., Yang, H., Gao, K., Liu, A., Jiao, H., Mao, B., Ding, J., Chang, X., Wang, J., Wu, Y., Yuan, Y., Jiang, Y., Zhang, F., Wu, H., Wu, X.

المساهمون: Xiong, H (reprint author), Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China., Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China., Peking Univ, Dept Med Genet, Sch Basic Med Sci, Beijing 100034, Peoples R China., Wuhan Childrens Hosp, Dept Neurol, Wuhan, Peoples R China., Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China., Fudan Univ, Sch Life Sci, Shanghai 200433, Peoples R China., Beijing Childrens Hosp, Dept Neurol, Beijing, Peoples R China.

المصدر: PubMed ; SCI

مصطلحات موضوعية: CGH, clinical manifestations, DNA sequencing, LAMA2, MLPA, LAMA2 GENE ANALYSIS, PRENATAL-DIAGNOSIS, MEROSIN, PHENOTYPE, POPULATION, EXPRESSION, MUTATIONS

العلاقة: CLINICAL GENETICS.2015,87,(3),233-243.; 653394; http://hdl.handle.net/20.500.11897/159918Test; WOS:000350052000005

الإتاحة: https://doi.org/20.500.11897/159918Test
https://doi.org/10.1111/cge.12366Test
https://hdl.handle.net/20.500.11897/159918Test

المؤلفون: Hao Yuchao, Dong-Sheng Wang, Qian-Fei Su, Jia-Cheng Lou, Bin-Bin Ma, Ning Zhang, Yan Ding, Bo Zhang, Zhi-Kuan Yu, Lyu Yizhu, Ruo-Qiang Wang, Zhongbo Yuan, Hongqiang Zhang, Ting-Zhun Zhu, Yu-Long Lan

المصدر: Therapeutic Advances in Endocrinology and Metabolism, Vol 10 (2019)
Therapeutic Advances in Endocrinology and Metabolism

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Protein subunit, nonfunctioning pituitary adenoma, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Laminin, Medicine, LAMA2, Gene, Original Research, 030304 developmental biology, Demethylation, 0303 health sciences, lcsh:RC648-665, biology, business.industry, Akt/PKB signaling pathway, Promoter, Methylation, invasion, Molecular biology, Blot, 030220 oncology & carcinogenesis, biology.protein, methylation, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f2f5de12ed1dacf847730253d1e51ddTest
https://doi.org/10.1177/2042018818821296Test

المؤلفون: Nelson, France, Stojkovic, France, Allamand, France, Leturcq, France, Becane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B, Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisele, Romero, Norma B.

المساهمون: Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Cardiologie B, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Génétique Médicale et Génomique Fonctionnelle (GMGF), 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)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Département de physiologie, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Thérapie des maladies du muscle strié, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS)-Thérapie des maladies du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Centre de Génétique Moléculaire et Chromosomique du GH Pitié-Salpêtrière-CHU Pitié-Salpêtrière [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Thérapie des maladies du muscle strié, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP]-CHU Pitié-Salpêtrière [APHP]-Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Université Pierre et Marie Curie - Paris 6 (UPMC)

المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2015, 2 (3), pp.229-240. ⟨10.3233/JND-150093⟩
Journal of Neuromuscular Diseases, IOS Press, 2015, 2 (3), pp.229-240. ⟨10.3233/JND-150093⟩

مصطلحات موضوعية: Research Report, Pathology, medicine.medical_specialty, Gene mutation, Biology, 03 medical and health sciences, 0302 clinical medicine, Collagen VI, medicine, Muscular dystrophy, Emery–Dreifuss muscular dystrophy, LAMA2, Myopathy, 030304 developmental biology, 0303 health sciences, congenital muscular dystrophy, Muscle weakness, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Laminin, alpha 2, 3. Good health, dilated cardiomyopathy, Laminin alpha 2, Neurology, collagen VI-related myopathy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72bbb11600a51c2c63e43a381b14f03bTest
https://amu.hal.science/hal-01681760Test