المؤلفون: Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giovanni Meola, Serena Pagliarani

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: congenital myopathy, episodic weakness, CACNA1S, Cav1.1, DHPR, splice minigene assay, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1359479/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/6569a66ef1434ed79db81c82146022f2Test

المؤلفون: Wen Zhou, Peilin Zhao, Jian Gao, Yunjian Zhang

المصدر: BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: CACNA1S, Cav1.1, Calcium channel, Hypokalemic periodic paralysis, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/d9f4f3eaa8d64a5aa0010995e573e8b3Test

المؤلفون: Hugo Bibollet, Audra Kramer, Roger A. Bannister, Erick O. Hernández-Ochoa

المصدر: Channels, Vol 17, Iss 1 (2023)

مصطلحات موضوعية: Skeletal muscle, CaV1.1, dihydropyridine receptor (DHPR), calcium channel, voltage-sensor, excitation-contraction (EC) coupling, Therapeutics. Pharmacology, RM1-950, Physiology, QP1-981

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1933-6950Test; https://doaj.org/toc/1933-6969Test

الوصول الحر: https://doaj.org/article/6bf9debf056341e99a39e8f282991339Test

المؤلفون: Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giovanni Meola, Serena Pagliarani

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, congenital myopathy, episodic weakness, CACNA1S, Cav1.1, DHPR, splice minigene assay, novel phenotype, periodic paralysis

العلاقة: https://figshare.com/articles/dataset/Data_Sheet_1_Case_report_Dihydropyridine_receptor_CACNA1S_congenital_myopathy_a_novel_phenotype_with_early_onset_periodic_paralysis_docx/25223231Test

الإتاحة: https://doi.org/10.3389/fneur.2024.1359479.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Case_report_Dihydropyridine_receptor_CACNA1S_congenital_myopathy_a_novel_phenotype_with_early_onset_periodic_paralysis_docx/25223231Test

المؤلفون: Monica L Fernández-Quintero, Yousra El Ghaleb, Petronel Tuluc, Marta Campiglio, Klaus R Liedl, Bernhard E Flucher

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: CaV1.1, voltage sensing, voltage-gated calcium channel, resting state structure, molecular dynamics simulation, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/64087Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/396cfdb917b248b285943a324d69ef21Test

المؤلفون: Perni, Stefano, Lavorato, Manuela, Beam, Kurt G.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2017 Dec . 114(52), 13822-13827.

الوصول الحر: https://www.jstor.org/stable/26488784Test

المؤلفون: Banks, Quinton, Bibollet, Hugo, Contreras, Minerva, Bennett, Daniel F, Bannister, Roger A, Schneider, Martin F, Hernández-Ochoa, Erick O

المصدر: 118 ; 40 ; United States

مصطلحات موضوعية: CaV1.1, action potential, excitation–contraction coupling, skeletal muscle, voltage sensor domain

العلاقة: Proceedings of the National Academy of Sciences of the United States of America; http://hdl.handle.net/10713/16763Test

الإتاحة: https://doi.org/10.1073/pnas.2026116118Test
http://hdl.handle.net/10713/16763Test

المؤلفون: Jeanne Lainé, Gunnar Skoglund, Emmanuel Fournier, Nacira Tabti

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: iPS-derived skeletal muscle cells, Excitation-contraction coupling, Human-induced pluripotent stem cells, RyR1, Cav1.1, Ca2+ signaling, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13395-017-0147-5Test; https://doaj.org/toc/2044-5040Test

الوصول الحر: https://doaj.org/article/71cc87a2b9834e5083ccbc244f2114acTest

المؤلفون: Lainé, Jeanne, Skoglund, Gunnar, Fournier, Emmanuel, Tabti, Nacira

المساهمون: CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)

المصدر: ISSN: 2044-5040 ; Skeletal Muscle ; https://hal.sorbonne-universite.fr/hal-04412682Test ; Skeletal Muscle, 2018, 8 (1), pp.1. ⟨10.1186/s13395-017-0147-5⟩.

مصطلحات موضوعية: iPS-derived skeletal muscle cells Excitation-contraction coupling Human-induced pluripotent stem cells RyR1 Cav1.1 Ca 2+ signaling SR-TT junctions Myofibrillogenesis, iPS-derived skeletal muscle cells, Excitation-contraction coupling, Human-induced pluripotent stem cells, RyR1, Cav1.1, Ca 2+ signaling, SR-TT junctions, Myofibrillogenesis, Ca2+ signaling, MESH: Calcium Signaling, MESH: Caveolin 1, MESH: Myofibrils, MESH: Ryanodine Receptor Calcium Release Channel, MESH: Cell Differentiation, MESH: Cells, Cultured, MESH: Excitation Contraction Coupling, MESH: Humans, MESH: Induced Pluripotent Stem Cells, MESH: Microscopy, Electron, MESH: Muscle Development, MESH: Muscle Fibers, Skeletal, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29304851; hal-04412682; https://hal.sorbonne-universite.fr/hal-04412682Test; https://hal.sorbonne-universite.fr/hal-04412682/documentTest; https://hal.sorbonne-universite.fr/hal-04412682/file/s13395-017-0147-5.pdfTest; PUBMED: 29304851; PUBMEDCENTRAL: PMC5756430

الإتاحة: https://doi.org/10.1186/s13395-017-0147-5Test
https://hal.sorbonne-universite.fr/hal-04412682Test
https://hal.sorbonne-universite.fr/hal-04412682/documentTest
https://hal.sorbonne-universite.fr/hal-04412682/file/s13395-017-0147-5.pdfTest

المؤلفون: Bibollet, Hugo, Schneider, Martin F., Hernández-Ochoa, Erick O.

مصطلحات موضوعية: CaV1.1, Ca2+, Calcium Channels, Dihydropyridines, Fluorometry, Ion Channel Gating, Muscle Fibers, Skeletal

العلاقة: http://hdl.handle.net/10713/20552Test

الإتاحة: http://hdl.handle.net/10713/20552Test