المؤلفون: Rita CCS. Santos, Larissa FCDMS. Lima, Pâmela V. Andrade, Joilson M. Santos, Leonardo Galleni, Antonio FR. Junior, Lucas S. Souza, Beny Schmidt, Acary SB. Oliveira, José LG. Amaral, Mariz Vainzof, Helga CA. Silva

المصدر: Heliyon, Vol 11, Iss 2, Pp e41776- (2025)

مصطلحات موضوعية: Central core disease, Goniometry, Joint instability, Malignant hyperthermia, Myopathy, Ryanodine receptor gene, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844025001562; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/59e6c77a57bb471fbb3cc7923d8e0c82

المؤلفون: Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel

المصدر: EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)

مصطلحات موضوعية: Central core disease, Congenital myopathies, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589537024000129; https://doaj.org/toc/2589-5370

URL الوصول: https://doaj.org/article/eaee208d483c458182ce30c47fd601c7

المؤلفون: Voermans, Nicol C., Oldfors, Anders, 1951, Jungbluth, Heinz

المصدر: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition: Volume 2. :575-587

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, central core disease (CCD), congenital fiber-type disproportion (CFTD), Congenital myopathy (CM), multiminicore disease (MmD), myotubular/centronuclear myopathy (MTM/CNM), nemaline myopathy (NM), skeletal muscle ryanodine receptor (RYR1) gene, titin (TTN) gene

URL الوصول: https://gup.ub.gu.se/publication/346186

المؤلفون: Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro

المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-20 (2022)

مصطلحات موضوعية: RYR1-related myopathies, Central core disease, Multi-minicore disease, Genotype–phenotype correlations, Neuromuscular disorder, Protein modelling, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/3ed5f40b63494afb99f982bee9a3292a

المؤلفون: LI Dongbo, HUANG Lyuwen, ZHAO Xubo

المصدر: 智慧农业, Vol 3, Iss 4, Pp 66-76 (2021)

مصطلحات موضوعية: apple mouldy core disease, dielectric characteristics, random forest, bp neural network, support vector machine, Agriculture (General), S1-972, Technology (General), T1-995

وصف الملف: electronic resource

Relation: http://www.smartag.net.cn/article/2021/2096-8094/2096-8094-2021-3-4-66.shtml; https://doaj.org/toc/2096-8094

URL الوصول: https://doaj.org/article/c1a42fd1151a4f508838a2153bd5d722

المؤلفون: Silva, Helga Cristina Almeida da UNIFESP, Andrade, Pâmela Vieira de UNIFESP, Santos, Joilson Moura dos UNIFESP, Teixeira, Anne Caroline Barbosa, Sogari, Vanessa Fante UNIFESP, Almeida, Michelle Samora de UNIFESP, Callegari, Fabiano Mesquita UNIFESP, Krepischi, Ana Cristina Victorino, Oliveira, Acary Souza Bulle UNIFESP, Vainzof, Mariz

المساهمون: http://lattes.cnpq.br/0844918862241102, http://lattes.cnpq.br/3536599065009604, http://lattes.cnpq.br/6003112490584362, http://lattes.cnpq.br/5831744666871099, http://lattes.cnpq.br/8532360349998803, http://lattes.cnpq.br/0529812898512530, http://lattes.cnpq.br/0513711533904879, http://lattes.cnpq.br/9202788560457272, http://lattes.cnpq.br/3911841387107665, http://lattes.cnpq.br/2151728380413759

مصطلحات موضوعية: Malignant hyperthermia, Rhabdomyosarcoma, Central core disease, Ryanodine receptor, ASPSCR1 protein

وصف الملف: application/pdf

Relation: Genes; https://repositorio.unifesp.br/11600/68417

الاتاحة: https://repositorio.unifesp.br/11600/68417
https://doi.org/10.3390/genes14071360

المؤلفون: Min Jung Kim, Mi Hyeon Kim, Sung-Hye Park, Yeong Wook Song

المصدر: Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Dermatomyositis, Central core disease, Congenital myopathy, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1546-0096

URL الوصول: https://doaj.org/article/ced4aa668b054ef0969fccf406df12ba

المؤلفون: Laurent Pelletier, Anne Petiot, Julie Brocard, Benoit Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel Metzger, Clara Franzini Armstrong, Norma B. Romero, John Rendu, Vincent Jacquemond, Julien Fauré, Isabelle Marty

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-18 (2020)

مصطلحات موضوعية: Ryanodine receptor, Calcium, Skeletal muscle, Excitation–contraction coupling, Congenital myopathies, Central core disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-020-01068-4; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/2c59ba431b5a4681b7ca6ffbbfedcadb

المؤلفون: Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling, Joshua J. Todd

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-35 (2020)

مصطلحات موضوعية: Ryanodine receptor, RYR1, Congenital myopathy, Central core disease, Preclinical, Mouse, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01384-x; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/7a62b41e32a4459eb65dc74103516518

المؤلفون: Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto, Antonio Pedro Vargas, Reinaldo Issao Takata, Julia Filardi Paim, Mariz Vainzof

المصدر: Genes, Vol 13, Iss 760, p 760 (2022)

مصطلحات موضوعية: central core disease, RYR1, clinical heterogeneity, electromyography, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/13/5/760; https://doaj.org/toc/2073-4425; https://doaj.org/article/0a82d280f69341588851a32b76eda3e7

الاتاحة: https://doi.org/10.3390/genes13050760
https://doaj.org/article/0a82d280f69341588851a32b76eda3e7

المؤلفون: Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero

المصدر: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)

مصطلحات موضوعية: RYR1 recessive, Dusty Core Disease, Central Core Disease, Congenital Myopathy, Centronuclear myopathy, Ryanodine receptor, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0655-5; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/c73f5437deee409b931e8b9a6c5226cb

المؤلفون: Germani, Serena, Van Ho, Andrew Tri, Cherubini, Alessandro, Varone, Ersilia, Chernorudskiy, Alexander, Renna, Giorgia Maria, Fumagalli, Stefano, Gobbi, Marco, Lucchetti, Jacopo, Bolis, Marco, Guarrera, Luca, Craparotta, Ilaria, Rastelli, Giorgia, Piccoli, Giorgia, de Napoli, Cosimo, Nogara, Leonardo, Poggio, Elena, Brini, Marisa, Cattaneo, Angela, Bachi, Angela, Simmen, Thomas, Calì, Tito, Quijano-Roy, Susana, Boncompagni, Simona, Blaauw, Bert, Ferreiro, Ana, Zito, Ester

المساهمون: Germani, Serena, Van Ho, Andrew Tri, Cherubini, Alessandro, Varone, Ersilia, Chernorudskiy, Alexander, Renna, Giorgia Maria, Fumagalli, Stefano, Gobbi, Marco, Lucchetti, Jacopo, Bolis, Marco, Guarrera, Luca, Craparotta, Ilaria, Rastelli, Giorgia, Piccoli, Giorgia, de Napoli, Cosimo, Nogara, Leonardo, Poggio, Elena, Brini, Marisa, Cattaneo, Angela, Bachi, Angela, Simmen, Thoma, Calì, Tito, Quijano-Roy, Susana, Boncompagni, Simona, Blaauw, Bert, Ferreiro, Ana, Zito, Ester

مصطلحات موضوعية: ER stre, ERO1, SEPN1, TUDCA, core myopathy, multi mini-core disease

Relation: firstpage:101439; journal:CELL REPORTS MEDICINE; https://hdl.handle.net/11576/2730852; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187567812

الاتاحة: https://hdl.handle.net/11576/2730852
https://doi.org/10.1016/j.xcrm.2024.101439

المؤلفون: Jokela, Manu, Tasca, Giorgio, Vihola, Anna, Mercuri, Eugenio, Jonson, Per-Harald, Lehtinen, Sara, Välipakka, Salla, Pane, Marika, Donati, Maria, Johari, Mridul, Savarese, Marco, Huovinen, Sanna, Isohanni, Pirjo, Palmio, Johanna, Hartikainen, Päivi, Udd, Bjarne

المساهمون: Medicum, Department of Medical and Clinical Genetics, University of Helsinki, HUS Children and Adolescents, Staff Services, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Clinicum, Children's Hospital

مصطلحات موضوعية: CENTRAL CORE DISEASE, CONGENITAL MYOPATHY, RYR1-RELATED MYOPATHIES, RECESSIVE MUTATIONS, COMMON-CAUSE, GENE, DOMINANT, DEPLETION, MYALGIA, Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: The study was supported by grants from the Finnish Academy, the Juselius Foundation, and the Competitive State Research Financing of the Expert Responsibility area of Tampere University Hospital.; Jokela , M , Tasca , G , Vihola , A , Mercuri , E , Jonson , P-H , Lehtinen , S , Välipakka , S , Pane , M , Donati , M , Johari , M , Savarese , M , Huovinen , S , Isohanni , P , Palmio , J , Hartikainen , P & Udd , B 2019 , ' An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy ' , Neurology , vol. 92 , no. 14 , pp. E1600-E1609 . https://doi.org/10.1212/WNL.0000000000007246; ORCID: /0000-0002-9197-1288/work/63685171; ORCID: /0000-0002-3549-558X/work/63686355; ORCID: /0000-0002-2591-244X/work/127008838; http://hdl.handle.net/10138/326362; 046c58e8-c807-4aea-83fb-2b8e7cdd8c6b; 000480758600007

الاتاحة: http://hdl.handle.net/10138/326362

المؤلفون: Kim , Se Jin, Roh, Yeon Ji, Cho , So Yeon, Bae, Jangho, Kang, Seongsik

المصدر: Asian Journal of Pharmacy, Nursing and Medical Sciences; Vol. 9 No. 3 (2021): June 2021 ; 2321-3639

مصطلحات موضوعية: Central core disease, Congenital myopathy, General anesthesia, Malignant hyperthermia, Spinal anesthesia

وصف الملف: application/pdf

Relation: https://www.ajouronline.com/index.php/AJPNMS/article/view/6610/3649; https://www.ajouronline.com/index.php/AJPNMS/article/view/6610

الاتاحة: https://www.ajouronline.com/index.php/AJPNMS/article/view/6610
https://doi.org/10.24203/ajpnms.v9i3.6610

المؤلفون: GERMANI, Serena

المساهمون: Germani, Serena, SORRENTINO, VINCENZO

مصطلحات موضوعية: Core myopathy, multi mini-core disease, ER stress, CHOP, ERO1, RYR1, SEPN1, TUDCA

Relation: https://hdl.handle.net/11365/1261194

الاتاحة: https://hdl.handle.net/11365/1261194

المؤلفون: Portela, Mariana Gouveia Sanches da Silva

المساهمون: Matos, Anabela Peixinho Valente de, Gonçalves, António Freire

مصطلحات موضوعية: mutações RyR1, miopatia congénita, RyR1 mutations, central core disease, malignant hyperthermia susceptibility, congenital myopathy, multiminicore disease

الاتاحة: http://hdl.handle.net/10316/81952

المؤلفون: Garibaldi M., Fattori F., Pennisi E. M., Merlonghi G., Fionda L., Vanoli F., Leonardi L., Bucci E., Morino S., Micaloni A., Tartaglione T., Uijterwijk B., Zierikzee M., Ottenheijm C., Bertini E. S., Stoppacciaro A., Raffa S., Salvetti M., Antonini G.

المساهمون: Garibaldi, M., Fattori, F., Pennisi, E. M., Merlonghi, G., Fionda, L., Vanoli, F., Leonardi, L., Bucci, E., Morino, S., Micaloni, A., Tartaglione, T., Uijterwijk, B., Zierikzee, M., Ottenheijm, C., Bertini, E. S., Stoppacciaro, A., Raffa, S., Salvetti, M., Antonini, G.

مصطلحات موضوعية: Acta1, Central core, Central core disease, Congenital myopathy, Core-rod myopathy, Nemaline myopathy

Relation: info:eu-repo/semantics/altIdentifier/pmid/33384202; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11573/1477816; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85098620572

الاتاحة: http://hdl.handle.net/11573/1477816
https://doi.org/10.1016/j.nmd.2020.11.012

المساهمون: College of Medicine, Dept. of Pathology, Ha Neul Jeong, Hyung Jun Park, Jung Hwan Lee, Ha Young Shin, Se Hoon Kim, Seung Min Kim, Young Chul Choi, Kim, Se Hoon, Kim, Seung Min, Shin, Ha Young, Lee, Jung Hwan, Jeong, Ha Neul, Choi, Young Chul

مصطلحات موضوعية: RYR1, central core disease, myopathy, ryanodine receptor 1

Relation: JOURNAL OF CLINICAL NEUROLOGY; J01327; OAK-2018-00258; https://ir.ymlib.yonsei.ac.kr/handle/22282913/161888; T201800192; JOURNAL OF CLINICAL NEUROLOGY, Vol.14(1) : 58-65, 2018

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/161888
https://doi.org/10.3988/jcn.2018.14.1.58

المؤلفون: Jungbluth, H, Treves, S, Zorzato, F, Sarkozy, A, Ochala, J, Sewry, C, Phadke, R, Gautel, M, Muntoni, F

المصدر: Nature Reviews Neurology , 14 (3) pp. 151-167. (2018)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, Fiber-Type Disproportion, Central Core Disease, Linked Myotubular Myopathy, Multi-Minicore Disease, Dominant Centronuclear Myopathy, Recessive Nemaline Myopathy, Myosin Heavy-Chain, Malignant Hyperthermia Susceptibility, Sarcoplasmic-Reticulum Membrane, Triadin Knockout Syndrome

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10052916/1/250817%20CM%20Review%20Final.pdf; https://discovery.ucl.ac.uk/id/eprint/10052916/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10052916/1/250817%20CM%20Review%20Final.pdf
https://discovery.ucl.ac.uk/id/eprint/10052916/

المؤلفون: Marks, S., van Ruitenbeek, E., Fallon, P., Johns, P., Phadke, R., Mein, R., Mohammed, S., Jungbluth, H.

المصدر: Marks , S , van Ruitenbeek , E , Fallon , P , Johns , P , Phadke , R , Mein , R , Mohammed , S & Jungbluth , H 2018 , ' Parental mosaicism in RYR1 -related Central Core Disease ' , Neuromuscular Disorders , vol. 28 , no. 5 , pp. 422-426 . https://doi.org/10.1016/j.nmd.2018.02.011

مصطلحات موضوعية: skeletal muscle ryanodine receptor (RYR1) gene, Central Core Disease (CCD), mosaicism

وصف الملف: application/pdf

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/b47140b8-f7d5-4330-9a6e-27673a8d0547

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/b47140b8-f7d5-4330-9a6e-27673a8d0547
https://doi.org/10.1016/j.nmd.2018.02.011
https://kclpure.kcl.ac.uk/ws/files/87839770/Parental_mosaicism_in_RYR1_related_MARKS_Publishedonline26February2018_GREEN_AAM_CC_BY_NC_ND_.pdf