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For: Sewry CA, Wallgren-Pettersson C. Myopathology in congenital myopathies. Neuropathol Appl Neurobiol 2017;43:5-23. [PMID: 27976420 DOI: 10.1111/nan.12369] [Cited by in Crossref: 44] [Cited by in F6Publishing: 31] [Article Influence: 11.0] [Reference Citation Analysis]
Number Citing Articles
1 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] [Reference Citation Analysis]
2 Huang K, Bi FF, Yang H. A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy. Front Neurol 2021;12:761636. [PMID: 34795634 DOI: 10.3389/fneur.2021.761636] [Reference Citation Analysis]
3 Ogasawara M, Nishino I. A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. Neuromuscul Disord 2021;31:968-77. [PMID: 34627702 DOI: 10.1016/j.nmd.2021.08.015] [Reference Citation Analysis]
4 Inoue M, Noguchi S, Sonehara K, Nakamura-Shindo K, Taniguchi A, Kajikawa H, Nakamura H, Ishikawa K, Ogawa M, Hayashi S, Okada Y, Kuru S, Iida A, Nishino I. A recurrent homozygous ACTN2 variant associated with core myopathy. Acta Neuropathol 2021;142:785-8. [PMID: 34471957 DOI: 10.1007/s00401-021-02363-7] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
5 Laflamme N, Lace B, Thonta Setty S, Rioux N, Labrie Y, Droit A, Chrestian N, Rivest S. A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy. Front Neurol 2021;12:660113. [PMID: 34211429 DOI: 10.3389/fneur.2021.660113] [Reference Citation Analysis]
6 Borovikov YS, Andreeva DD, Avrova SV, Sirenko VV, Simonyan AO, Redwood CS, Karpicheva OE. Molecular Mechanisms of the Deregulation of Muscle Contraction Induced by the R90P Mutation in Tpm3.12 and the Weakening of This Effect by BDM and W7. Int J Mol Sci 2021;22:6318. [PMID: 34204776 DOI: 10.3390/ijms22126318] [Reference Citation Analysis]
7 Luo S, Rosen SM, Li Q, Agrawal PB. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease. Int J Mol Sci 2021;22:5732. [PMID: 34072258 DOI: 10.3390/ijms22115732] [Reference Citation Analysis]
8 Madigan NN, Polzin MJ, Cui G, Liewluck T, Alsharabati MH, Klein CJ, Windebank AJ, Mer G, Milone M. Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype. Acta Neuropathol Commun 2021;9:79. [PMID: 33926564 DOI: 10.1186/s40478-021-01168-9] [Reference Citation Analysis]
9 F Almeida C, Bitoun M, Vainzof M. Satellite cells deficiency and defective regeneration in dynamin 2-related centronuclear myopathy. FASEB J 2021;35:e21346. [PMID: 33715228 DOI: 10.1096/fj.202001313RRR] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Natera-de Benito D, Ortez C, Jou C, Jimenez-Mallebrera C, Codina A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell L, Gallano P, Gonzalez-Quereda L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort. Pediatr Neurol 2021;115:50-65. [PMID: 33333461 DOI: 10.1016/j.pediatrneurol.2020.11.002] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
11 Karpicheva OE, Simonyan AO, Rysev NA, Redwood CS, Borovikov YS. Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin. Int J Mol Sci 2020;21:E7590. [PMID: 33066566 DOI: 10.3390/ijms21207590] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
12 Borovikov YS, Simonyan AO, Avrova SV, Sirenko VV, Redwood CS, Karpicheva OE. Molecular Mechanisms of Muscle Weakness Associated with E173A Mutation in Tpm3.12. Troponin Ca2+ Sensitivity Inhibitor W7 Can Reduce the Damaging Effect of This Mutation. Int J Mol Sci 2020;21:E4421. [PMID: 32580284 DOI: 10.3390/ijms21124421] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
13 Lee HH, Wong S, Leung FY, Ho LC, Chan ST, Fung TS, Kwan KF, Yau KE, Li KW, Yau WN, Leung HC, Chen SP, Mak CM. Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese. J Neuropathol Exp Neurol 2019;78:854-64. [PMID: 31360996 DOI: 10.1093/jnen/nlz056] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
14 Lindqvist J, Ma W, Li F, Hernandez Y, Kolb J, Kiss B, Tonino P, van der Pijl R, Karimi E, Gong H, Strom J, Hourani Z, Smith JE 3rd, Ottenheijm C, Irving T, Granzier H. Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism. Nat Commun 2020;11:2699. [PMID: 32483185 DOI: 10.1038/s41467-020-16526-9] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
15 Laitila JM, McNamara EL, Wingate CD, Goullee H, Ross JA, Taylor RL, van der Pijl R, Griffiths LM, Harries R, Ravenscroft G, Clayton JS, Sewry C, Lawlor MW, Ottenheijm CAC, Bakker AJ, Ochala J, Laing NG, Wallgren-Pettersson C, Pelin K, Nowak KJ. Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. Acta Neuropathol Commun 2020;8:18. [PMID: 32066503 DOI: 10.1186/s40478-020-0893-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
16 Marguet F, Rendu J, Vanhulle C, Bedat-Millet AL, Brehin AC, Fauré J, Laquerrière A. Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene. Neuromuscul Disord 2020;30:207-12. [PMID: 32008911 DOI: 10.1016/j.nmd.2019.12.005] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
17 Kamio K, Takahashi Y, Ishihara K, Sekiya A, Kato S, Shimanuki I, Ide M, Furuoka H. Centronuclear Myopathy with Abundant Nemaline Rods in a Japanese Black and Hereford Crossbred Calf. J Comp Pathol 2020;174:8-12. [PMID: 31955807 DOI: 10.1016/j.jcpa.2019.10.010] [Reference Citation Analysis]
18 Nicolau S, Kao JC, Liewluck T. Trouble at the junction: When myopathy and myasthenia overlap. Muscle Nerve 2019;60:648-57. [PMID: 31449669 DOI: 10.1002/mus.26676] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 4.3] [Reference Citation Analysis]
19 Sewry CA, Laitila JM, Wallgren-Pettersson C. Nemaline myopathies: a current view. J Muscle Res Cell Motil. 2019;40:111-126. [PMID: 31228046 DOI: 10.1007/s10974-019-09519-9] [Cited by in Crossref: 47] [Cited by in F6Publishing: 38] [Article Influence: 15.7] [Reference Citation Analysis]
20 Phadke R. Myopathology of Congenital Myopathies: Bridging the Old and the New. Seminars in Pediatric Neurology 2019;29:55-70. [DOI: 10.1016/j.spen.2019.01.007] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
21 Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol 2019;137:501-19. [PMID: 30701273 DOI: 10.1007/s00401-019-01963-8] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 6.7] [Reference Citation Analysis]
22 Hernandez-lain A, Cantero D, Camacho-salas A, Toldos O, Esteban I, Pascual I, Dominguez-gonzalez C. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1. Neuromuscular Disorders 2019;29:247-50. [DOI: 10.1016/j.nmd.2018.12.001] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
23 Suman M, Sharpe JA, Bentham RB, Kotiadis VN, Menegollo M, Pignataro V, Molgó J, Muntoni F, Duchen MR, Pegoraro E, Szabadkai G. Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients. Hum Mol Genet 2018;27:2367-82. [PMID: 29701772 DOI: 10.1093/hmg/ddy149] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
24 Fongy A, Falcone S, Lainé J, Prudhon B, Martins-Bach A, Bitoun M. Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. Sci Rep 2019;9:1580. [PMID: 30733559 DOI: 10.1038/s41598-018-38184-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
25 Pelin K, Wallgren-Pettersson C. Update on the Genetics of Congenital Myopathies. Semin Pediatr Neurol 2019;29:12-22. [PMID: 31060721 DOI: 10.1016/j.spen.2019.01.005] [Cited by in Crossref: 10] [Cited by in F6Publishing: 5] [Article Influence: 3.3] [Reference Citation Analysis]
26 Gonorazky HD, Dowling JJ, Volpatti JR, Vajsar J. Signs and Symptoms in Congenital Myopathies. Semin Pediatr Neurol 2019;29:3-11. [PMID: 31060723 DOI: 10.1016/j.spen.2019.01.002] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
27 Michael E, Hedberg-Oldfors C, Wilmar P, Visuttijai K, Oldfors A, Darin N. Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations. Neuromuscul Disord 2019;29:108-13. [PMID: 30642739 DOI: 10.1016/j.nmd.2018.12.009] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
28 Borovikov YS, Karpicheva OE, Simonyan AO, Avrova SV, Rogozovets EA, Sirenko VV, Redwood CS. The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies. Int J Mol Sci 2018;19:E3975. [PMID: 30544720 DOI: 10.3390/ijms19123975] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.5] [Reference Citation Analysis]
29 Zanoteli E. Centronuclear myopathy: advances in genetic understanding and potential for future treatments. Expert Opinion on Orphan Drugs 2018;6:375-84. [DOI: 10.1080/21678707.2018.1480366] [Reference Citation Analysis]
30 Kao JC, Liewluck T, Milone M. A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult. J Clin Neurosci 2018;53:261-2. [PMID: 29731279 DOI: 10.1016/j.jocn.2018.04.044] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
31 Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve 2018;58:167-77. [PMID: 29350766 DOI: 10.1002/mus.26077] [Cited by in Crossref: 43] [Cited by in F6Publishing: 29] [Article Influence: 10.8] [Reference Citation Analysis]
32 Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, Romero NB, Beggs AH, Ottenheijm CAC. Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). Ann Neurol 2018;83:269-82. [PMID: 29328520 DOI: 10.1002/ana.25144] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 2.5] [Reference Citation Analysis]
33 Kondo T, Yasuda T, Mukaida K, Otsuki S, Kanzaki R, Miyoshi H, Hamada H, Nishino I, Kawamoto M. Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia. J Anesth 2018;32:174-81. [DOI: 10.1007/s00540-018-2451-6] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
34 Stenzel W, Goebel HH. Recent advances in Myopathology. Neuropathol Appl Neurobiol 2017;43:3-4. [PMID: 28297097 DOI: 10.1111/nan.12389] [Reference Citation Analysis]