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Cited by in F6Publishing
For: Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, Chrismer IC, Zhang X, Cosgrove MM, Kuo A, Vasavada R, Jain MS, Waite M, Rajapakse D, Witherspoon JW, Wistow G, Meilleur KG. Correlation of phenotype with genotype and protein structure in RYR1-related disorders. J Neurol 2018;265:2506-24. [PMID: 30155738 DOI: 10.1007/s00415-018-9033-2] [Cited by in Crossref: 11] [Cited by in F6Publishing: 16] [Article Influence: 2.8] [Reference Citation Analysis]
Number Citing Articles
1 Zhao Q, Li X, Liu L, Zhang X, Pan X, Yao H, Ma Y, Tan B. Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus. BMC Med Genomics 2022;15:202. [PMID: 36131268 DOI: 10.1186/s12920-022-01358-x] [Reference Citation Analysis]
2 Greer LK, Meilleur KG, Harvey BK, Wires ES. Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells. Orphanet J Rare Dis 2022;17:225. [PMID: 35698232 DOI: 10.1186/s13023-022-02368-9] [Reference Citation Analysis]
3 Ogasawara M, Nishino I. A review of major causative genes in congenital myopathies. J Hum Genet 2022. [PMID: 35668205 DOI: 10.1038/s10038-022-01045-w] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 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] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
5 Wang QL, Fang Y, Jin SG, Liang JT, Ren YF. Atypical symptoms of malignant hyperthermia: A rare causative mutation in the RYR1 gene. Open Medicine 2022;17:239-44. [DOI: 10.1515/med-2021-0396] [Reference Citation Analysis]
6 Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course. Acta Neuropathol Commun 2021;9:155. [PMID: 34535181 DOI: 10.1186/s40478-021-01254-y] [Reference Citation Analysis]
7 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]
8 Lawal TA, Patankar A, Todd JJ, Razaqyar MS, Chrismer IC, Zhang X, Waite MR, Jain MS, Emile-Backer M, Witherspoon JW, Liu CY, Grunseich C, Meilleur KG. Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI. J Neuromuscul Dis 2021;8:657-68. [PMID: 33646171 DOI: 10.3233/JND-200549] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
9 Waheed W, Allison JB, Dewitt J, Hallman S, Tandan R. Axial muscle weakness. Pract Neurol 2020:practneurol-2020-002736. [PMID: 33262222 DOI: 10.1136/practneurol-2020-002736] [Reference Citation Analysis]
10 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] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
11 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: 17] [Article Influence: 3.0] [Reference Citation Analysis]
12 Vivekanandam V, Männikkö R, Matthews E, Hanna MG. Improving genetic diagnostics of skeletal muscle channelopathies. Expert Rev Mol Diagn 2020;20:725-36. [PMID: 32657178 DOI: 10.1080/14737159.2020.1782195] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
13 Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR. Intracellular calcium leak as a therapeutic target for RYR1-related myopathies. Acta Neuropathol 2020;139:1089-104. [PMID: 32236737 DOI: 10.1007/s00401-020-02150-w] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 7.5] [Reference Citation Analysis]
14 Todd JJ, Lawal TA, Witherspoon JW, Chrismer IC, Razaqyar MS, Punjabi M, Elliott JS, Tounkara F, Kuo A, Shelton MO, Allen C, Cosgrove MM, Linton M, Michael D, Jain MS, Waite M, Drinkard B, Wakim PG, Dowling JJ, Bönnemann CG, Emile-Backer M, Meilleur KG. Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies. Neurology 2020;94:e1434-44. [PMID: 31941795 DOI: 10.1212/WNL.0000000000008872] [Cited by in Crossref: 9] [Cited by in F6Publishing: 13] [Article Influence: 4.5] [Reference Citation Analysis]
15 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: 37] [Article Influence: 12.7] [Reference Citation Analysis]
16 Dulhunty AF, Beard NA, Casarotto MG. Recent advances in understanding the ryanodine receptor calcium release channels and their role in calcium signalling. F1000Res 2018;7:F1000 Faculty Rev-1851. [PMID: 30542613 DOI: 10.12688/f1000research.16434.1] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]