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For: Lawal TA, Todd JJ, Meilleur KG. Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. Neurotherapeutics 2018;15:885-99. [PMID: 30406384 DOI: 10.1007/s13311-018-00677-1] [Cited by in Crossref: 38] [Cited by in F6Publishing: 28] [Article Influence: 12.7] [Reference Citation Analysis]
Number Citing Articles
1 Faudone G, Arifi S, Merk D. The Medicinal Chemistry of Caffeine. J Med Chem 2021;64:7156-78. [PMID: 34019396 DOI: 10.1021/acs.jmedchem.1c00261] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
2 Bouman K, Küsters B, De Winter JM, Gillet C, Van Kleef ESB, Eshuis L, Brochier G, Madelaine A, Labasse C, Boulogne C, Van Engelen BGM, Ottenheijm CAC, Romero NB, Voermans NC, Malfatti E. NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material. J Neuropathol Exp Neurol 2021;80:366-76. [PMID: 33693846 DOI: 10.1093/jnen/nlab012] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Beaufils M, Travard L, Rendu J, Marty I. Therapies for RYR1-Related Myopathies: Where We Stand and the Perspectives. Curr Pharm Des 2021. [PMID: 34514983 DOI: 10.2174/1389201022666210910102516] [Reference Citation Analysis]
4 Mauri E, Piga D, Govoni A, Brusa R, Pagliarani S, Ripolone M, Dilena R, Cinnante C, Sciacco M, Cassandrini D, Nigro V, Bresolin N, Corti S, Comi GP, Magri F. Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies. Front Neurol 2021;12:664618. [PMID: 34262519 DOI: 10.3389/fneur.2021.664618] [Reference Citation Analysis]
5 Sztretye M, Szabó L, Dobrosi N, Fodor J, Szentesi P, Almássy J, Magyar ZÉ, Dienes B, Csernoch L. From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies. Int J Mol Sci 2020;21:E8935. [PMID: 33255644 DOI: 10.3390/ijms21238935] [Reference Citation Analysis]
6 Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. Skelet Muscle 2020;10:32. [PMID: 33190635 DOI: 10.1186/s13395-020-00243-4] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
7 Capella-Peris C, Cosgrove MM, Chrismer IC, Razaqyar MS, Elliott JS, Kuo A, Emile-Backer M, Meilleur KG. Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience. Patient 2020;13:423-34. [PMID: 32329019 DOI: 10.1007/s40271-020-00418-7] [Reference Citation Analysis]
8 Wang Q, Yu M, Xie Z, Liu J, Wang Q, Lv H, Zhang W, Yuan Y, Wang Z. Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients. Neurol Sci 2021. [PMID: 34595679 DOI: 10.1007/s10072-021-05627-y] [Reference Citation Analysis]
9 Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei LaPierre L, Dowling JJ, Dirksen RT. Mouse model of severe recessive RYR1-related myopathy. Hum Mol Genet 2019;28:3024-36. [PMID: 31107960 DOI: 10.1093/hmg/ddz105] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 5.5] [Reference Citation Analysis]
10 Dridi H, Wu W, Reiken SR, Ofer RM, Liu Y, Yuan Q, Sittenfeld L, Kushner J, Muchir A, Worman HJ, Marks AR. Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation. Hum Mol Genet 2021;29:3919-34. [PMID: 33388782 DOI: 10.1093/hmg/ddaa278] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
11 Papadimas GK, Xirou S, Kararizou E, Papadopoulos C. Update on Congenital Myopathies in Adulthood. Int J Mol Sci 2020;21:E3694. [PMID: 32456280 DOI: 10.3390/ijms21103694] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 Luo S, Li Q, Lin J, Murphy Q, Marty I, Zhang Y, Kazerounian S, Agrawal PB. SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins. Hum Mol Genet 2021;29:3882-91. [PMID: 33355670 DOI: 10.1093/hmg/ddaa276] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
13 Woll KA, Van Petegem F. Calcium Release Channels: Structure and Function of IP3 Receptors and Ryanodine Receptors. Physiol Rev 2021. [PMID: 34280054 DOI: 10.1152/physrev.00033.2020] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 13.0] [Reference Citation Analysis]
14 Smith L, Fabian L, Al-Maawali A, Noche RR, Dowling JJ. De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis. PLoS One 2020;15:e0231364. [PMID: 32804943 DOI: 10.1371/journal.pone.0231364] [Reference Citation Analysis]
15 Truong KM, Cherednichenko G, Pessah IN. Interactions of Dichlorodiphenyltrichloroethane (DDT) and Dichlorodiphenyldichloroethylene (DDE) With Skeletal Muscle Ryanodine Receptor Type 1. Toxicol Sci 2019;170:509-24. [PMID: 31127943 DOI: 10.1093/toxsci/kfz120] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
16 Dowling JJ, Riazi S, Litman RS. Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses. A A Pract 2021;15:e01377. [PMID: 33512901 DOI: 10.1213/XAA.0000000000001377] [Reference Citation Analysis]
17 Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019. Orphanet J Rare Dis 2020;15:113. [PMID: 32381029 DOI: 10.1186/s13023-020-01384-x] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
18 Galleni Leão L, Santos Souza L, Nogueira L, Pavanello RCM, Gurgel-Giannetti J, Reed UC, Oliveira ASB, Cuperman T, Cotta A, FPaim J, Zatz M, Vainzof M. Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients. Acta Myol 2020;39:274-82. [PMID: 33458582 DOI: 10.36185/2532-1900-030] [Reference Citation Analysis]
19 Volpatti JR, Endo Y, Knox J, Groom L, Brennan S, Noche R, Zuercher WJ, Roy P, Dirksen RT, Dowling JJ. Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline. Elife 2020;9:e52946. [PMID: 32223895 DOI: 10.7554/eLife.52946] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
20 Lupica A, Di Stefano V, Gagliardo A, Iacono S, Pignolo A, Ferlisi S, Torrente A, Pagano S, Gangitano M, Brighina F. Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers? Brain Sci 2021;11:398. [PMID: 33801069 DOI: 10.3390/brainsci11030398] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
21 Savarese M, Välipakka S, Johari M, Hackman P, Udd B. Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? J Neuromuscul Dis 2020;7:203-16. [PMID: 32176652 DOI: 10.3233/JND-190459] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
22 Xu L, Harms FL, Chirasani VR, Pasek DA, Kortüm F, Meinecke P, Dokholyan NV, Kutsche K, Meissner G. Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia. Cell Calcium 2020;87:102182. [PMID: 32097819 DOI: 10.1016/j.ceca.2020.102182] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
23 Chen W, Kudryashev M. Structure of RyR1 in native membranes. EMBO Rep 2020;21:e49891. [PMID: 32147968 DOI: 10.15252/embr.201949891] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
24 Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. Am J Med Genet A 2019;179:386-96. [PMID: 30652412 DOI: 10.1002/ajmg.a.61025] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
25 Singanamalla B, Kesavan S, Aggarwal D, Chatterjee D, Urtizberea A, Suthar R. Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy. J Pediatr Genet. [DOI: 10.1055/s-0041-1731683] [Reference Citation Analysis]
26 Cejas RB, Wang J, Hageman-Blair R, Liu S, Blanco JG. Comparative genome-wide DNA methylation analysis in myocardial tissue from donors with and without Down syndrome. Gene 2021;764:145099. [PMID: 32861879 DOI: 10.1016/j.gene.2020.145099] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
27 Bryant CD, Bagdas D, Goldberg LR, Khalefa T, Reed ER, Kirkpatrick SL, Kelliher JC, Chen MM, Johnson WE, Mulligan MK, Imad Damaj M. C57BL/6 substrain differences in inflammatory and neuropathic nociception and genetic mapping of a major quantitative trait locus underlying acute thermal nociception. Mol Pain 2019;15:1744806918825046. [PMID: 30632432 DOI: 10.1177/1744806918825046] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
28 Qiu K, Wang Y, Xu D, He L, Zhang X, Yan E, Wang L, Yin J. Ryanodine receptor RyR1-mediated elevation of Ca2+ concentration is required for the late stage of myogenic differentiation and fusion. J Anim Sci Biotechnol 2022;13:9. [PMID: 35144690 DOI: 10.1186/s40104-021-00668-x] [Reference Citation Analysis]
29 Watson E, Ahmad K, Fraser CL. The neuro-ophthalmology of inherited myopathies. Current Opinion in Ophthalmology 2019;30:476-83. [DOI: 10.1097/icu.0000000000000610] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
30 Mammen AL, Roda RH, Leung DG. Myopathy: Recent Progress, Current Therapies, and Future Directions. Neurotherapeutics 2018;15:837-9. [PMID: 30443717 DOI: 10.1007/s13311-018-00688-y] [Reference Citation Analysis]
31 Zhang Y, Yan H, Liu J, Yan H, Ma Y, Wei C, Wang Z, Xiong H, Chang X. Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre. BMC Pediatr 2022;22:65. [PMID: 35081925 DOI: 10.1186/s12887-021-03024-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
32 Agrawal A, Rathor R, Kumar R, Suryakumar G, Singh SN, Kumar B. Redox modification of ryanodine receptor contributes to impaired Ca2+ homeostasis and exacerbates muscle atrophy under high altitude. Free Radic Biol Med 2020;160:643-56. [PMID: 32916280 DOI: 10.1016/j.freeradbiomed.2020.09.001] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
33 Hsu PJ, Wang HD, Tseng YC, Pan SW, Sampurna BP, Jong YJ, Yuh CH. L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish. J Biomed Sci 2021;28:8. [PMID: 33435938 DOI: 10.1186/s12929-020-00707-1] [Reference Citation Analysis]
34 Baban A, Lodato V, Parlapiano G, di Mambro C, Adorisio R, Bertini ES, Dionisi-Vici C, Drago F, Martinelli D. Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children. Biomolecules 2021;11:1578. [PMID: 34827576 DOI: 10.3390/biom11111578] [Reference Citation Analysis]
35 Chang X, Wei R, Wei C, Liu J, Qin L, Yan H, Ma Y, Wang Z, Xiong H. Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy. Front Neurol 2022;13:870285. [DOI: 10.3389/fneur.2022.870285] [Reference Citation Analysis]