المؤلفون: Lehtokari, Vilma-Lotta^{Aff1, Aff2, IDs13023023029732_cor1}, Similä, Minna, Tammepuu, Marianne, Wallgren-Pettersson, Carina^{Aff1, Aff2}, Strang-Karlsson, Sonja, Hiekkala, Sinikka

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: muscular disorders, muscular dystrophies, congenital myopathies, whole exome sequencing, mutational diversity, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1365729/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/018bcbfda5d24cb1a20ec3e3bac830b5

المؤلفون: Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Sinikka Hiekkala

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Congenital myopathies, Cross-sectional survey, International classification of functioning (ICF), Self-reported functioning, Nemaline myopathy, Patient-Reported Outcomes Measurement Information System (PROMIS®), Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/0f7eaff581a349dd88fde8708bb1f67c

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: Campiglio, Marta^Aff11, Dyrda, Agnieszka^Aff11, Tuinte, Wietske E.^Aff11, Török, Enikő^Aff11

المساهمون: Michel, Martin C., Editor-in-Chief^Aff1, Barrett, James E., Editorial Board Member^Aff2, Centurión, David, Editorial Board Member^Aff3, Flockerzi, Veit, Editorial Board Member^Aff4, Geppetti, Pierangelo, Editorial Board Member^Aff5, Hofmann, Franz B., Editorial Board Member^Aff6, Meier, Kathryn Elaine, Editorial Board Member^Aff7, Page, Clive P., Editorial Board Member^Aff8, Wang, KeWei, Editorial Board Member^Aff9, Striessnig, Jörg, editor^Aff10

المصدر: Voltage-gated Ca2+ Channels: Pharmacology, Modulation and their Role in Human Disease. 279:3-39

المؤلفون: Andreeva, D. D., Rysev, N. A., Borovikov, Y. S., Karpicheva, O. E.^{Aff1, IDS1990519X23020025_cor4}

المصدر: Cell and Tissue Biology. 17(2):169-178

المؤلفون: Volpatti, Jonathan R.^{Aff1, Aff2}, Ghahramani-Seno, Mehdi M., Mansat, Mélanie, Sabha, Nesrin, Sarikaya, Ege^{Aff1, Aff2}, Goodman, Sarah J.^{Aff2, Aff4}, Chater-Diehl, Eric, Celik, Alper, Pannia, Emanuela, Froment, Carine, Combes-Soia, Lucie, Maani, Nika^{Aff1, Aff2}, Yuki, Kyoko E., Chicanne, Gaëtan, Uusküla-Reimand, Liis, Monis, Simon^{Aff1, Aff2}, Alvi, Sana Akhtar, Genetti, Casie A., Payrastre, Bernard^{Aff3, Aff7}, Beggs, Alan H., Bonnemann, Carsten G., Muntoni, Francesco, Wilson, Michael D.^{Aff1, Aff2, Aff6}, Weksberg, Rosanna^{Aff1, Aff2, Aff11, Aff12}, Viaud, Julien, Dowling, James J.^{Aff1, Aff2, Aff11, Aff13, IDs00401022024687_cor26}

المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 144(3):537-563

المؤلفون: Yaszay, Burt^Aff5, Coe, Kelsie M.^Aff6, Scannell, Brian P.^Aff6

المساهمون: Akbarnia, Behrooz A., editor^Aff1, Thompson, George H., editor^Aff2, Yazici, Muharrem, editor^Aff3, El-Hawary, Ron, editor^Aff4

المصدر: The Growing Spine : Management of Spinal Disorders in Young Children. :171-182

المؤلفون: Hans H Goebel, Carsten Dittmayer, Werner Stenzel

المصدر: Indian Journal of Pathology and Microbiology, Vol 65, Iss 5, Pp 271-276 (2022)

مصطلحات موضوعية: congenital myopathies, electron microscopy, enzyme histochemistry, mutations, Pathology, RB1-214, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2022;volume=65;issue=5;spage=271;epage=276;aulast=Goebel; https://doaj.org/toc/0377-4929

URL الوصول: https://doaj.org/article/fa1ad7a58f73443ebf95d519ead43bd9

المؤلفون: Feldman, Eva L.^Aff6, Russell, James W.^Aff7, Löscher, Wolfgang N.^Aff8, Grisold, Wolfgang^Aff9, Meng, Stefan^Aff10

المساهمون: Feldman, Eva L.^Aff1, Russell, James W.^Aff2, Löscher, Wolfgang N.^Aff3, Grisold, Wolfgang^Aff4, Meng, Stefan^Aff5

المصدر: Atlas of Neuromuscular Diseases : A Practical Guideline. :275-312