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For: Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat 2014;35:1418-26. [PMID: 25205138 DOI: 10.1002/humu.22693] [Cited by in Crossref: 73] [Cited by in F6Publishing: 69] [Article Influence: 10.4] [Reference Citation Analysis]
Number Citing Articles
1 Kiiski K, Lehtokari VL, Manzur AY, Sewry C, Zaharieva I, Muntoni F, Pelin K, Wallgren-Pettersson C. A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy. J Neuromuscul Dis 2015;2:433-8. [PMID: 27858751 DOI: 10.3233/JND-150107] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 0.9] [Reference Citation Analysis]
2 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]
3 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]
4 Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, Beggs AH. MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. Cold Spring Harb Mol Case Stud 2019;5:a004184. [PMID: 31127036 DOI: 10.1101/mcs.a004184] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
5 Lim AZ, McMacken G, Rastelli F, Oláhová M, Baty K, Hopton S, Falkous G, Töpf A, Lochmüller H, Marini-Bettolo C, McFarland R, Taylor RW. A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features. Neuromuscul Disord 2020;30:661-8. [PMID: 32684384 DOI: 10.1016/j.nmd.2020.06.008] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
6 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]
7 Feingold-zadok M, Chitayat D, Chong K, Injeyan M, Shannon P, Chapmann D, Maymon R, Pillar N, Reish O. Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita: Mutated NEB causes severe fetal nemaline myopathy. Prenat Diagn 2017;37:144-50. [DOI: 10.1002/pd.4977] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 1.6] [Reference Citation Analysis]
8 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]
9 Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D’amico A, Bruno C, Nigro V, Bresolin N, Comi GP. New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. J Mol Neurosci 2016;59:351-9. [DOI: 10.1007/s12031-016-0739-2] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
10 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]
11 Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M. Two novel nebulin variants in an adult patient with congenital nemaline myopathy. Neuromuscul Disord 2015;25:392-6. [PMID: 25740301 DOI: 10.1016/j.nmd.2015.01.013] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
12 Jones HF, Bryen SJ, Waddell LB, Bournazos A, Davis M, Farrar MA, McLean CA, Mowat DR, Sampaio H, Woodcock IR, Ryan MM, Jones KJ, Cooper ST. Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants. Neuromuscul Disord 2019;29:913-9. [PMID: 31706698 DOI: 10.1016/j.nmd.2019.09.013] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
13 Li F, Buck D, De Winter J, Kolb J, Meng H, Birch C, Slater R, Escobar YN, Smith JE 3rd, Yang L, Konhilas J, Lawlor MW, Ottenheijm C, Granzier HL. Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. Hum Mol Genet 2015;24:5219-33. [PMID: 26123491 DOI: 10.1093/hmg/ddv243] [Cited by in Crossref: 41] [Cited by in F6Publishing: 36] [Article Influence: 5.9] [Reference Citation Analysis]
14 Wang Q, Hu Z, Chang X, Yu M, Xie Z, Lv H, Zhang W, Xiong H, Yuan Y, Wang Z. Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. Clin Genet 2020;97:878-89. [PMID: 32222963 DOI: 10.1111/cge.13745] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
15 Liu D, Yu J, Wang X, Yang Y, Yu L, Zeng S, Zhang M, Xu G. Case Report: Prenatal Diagnosis of Nemaline Myopathy. Front Pediatr 2022;10:937668. [DOI: 10.3389/fped.2022.937668] [Reference Citation Analysis]
16 Lee JM, Lim JG, Shin JH, Park YE, Kim DS. Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. J Neurol Sci 2017;383:61-8. [PMID: 29246625 DOI: 10.1016/j.jns.2017.10.020] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 1.4] [Reference Citation Analysis]
17 Lee EJ, Kolb J, Hwee DT, Malik FI, Granzier HL. Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator tirasemtiv. Int J Mol Sci 2019;20:E5008. [PMID: 31658633 DOI: 10.3390/ijms20205008] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
18 Ahmed AA, Skaria P, Safina NP, Thiffault I, Kats A, Taboada E, Habeebu S, Saunders C. Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies. Am J Med Genet 2018;176:359-67. [DOI: 10.1002/ajmg.a.38577] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.4] [Reference Citation Analysis]
19 Wang Z, Grange M, Pospich S, Wagner T, Kho AL, Gautel M, Raunser S. Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin. Science 2022;375:eabn1934. [PMID: 35175800 DOI: 10.1126/science.abn1934] [Cited by in Crossref: 18] [Cited by in F6Publishing: 6] [Article Influence: 18.0] [Reference Citation Analysis]
20 De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B, Levy SE, Õunap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Med 2021;13:153. [PMID: 34645491 DOI: 10.1186/s13073-021-00965-0] [Reference Citation Analysis]
21 de Winter JM, Joureau B, Sequeira V, Clarke NF, van der Velden J, Stienen GJ, Granzier H, Beggs AH, Ottenheijm CA. Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. Skelet Muscle 2015;5:12. [PMID: 25949787 DOI: 10.1186/s13395-015-0037-7] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 2.3] [Reference Citation Analysis]
22 Laitila J, Wallgren-Pettersson C. Recent advances in nemaline myopathy. Neuromuscul Disord 2021;31:955-67. [PMID: 34561123 DOI: 10.1016/j.nmd.2021.07.012] [Reference Citation Analysis]
23 Butterfield RJ. Congenital Muscular Dystrophy and Congenital Myopathy. Continuum (Minneap Minn) 2019;25:1640-61. [PMID: 31794464 DOI: 10.1212/CON.0000000000000792] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
24 Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K. A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. Eur J Hum Genet 2016;24:574-80. [PMID: 26197980 DOI: 10.1038/ejhg.2015.166] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 3.3] [Reference Citation Analysis]
25 Rocha ML, Dittmayer C, Uruha A, Korinth D, Chaoui R, Schlembach D, Rossi R, Pelin K, Suk EK, Schmid S, Goebel HH, Schuelke M, Stenzel W, Englert B. A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation. Neuromuscul Disord 2021;31:239-45. [PMID: 33376055 DOI: 10.1016/j.nmd.2020.11.014] [Reference Citation Analysis]
26 Park YE, Shin JH, Kim HS, Lee CH, Kim DS. Characterization of congenital myopathies at a Korean neuromuscular center. Muscle Nerve 2018;58:235-44. [PMID: 29669168 DOI: 10.1002/mus.26147] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
27 Kolb J, Li F, Methawasin M, Adler M, Escobar YN, Nedrud J, Pappas CT, Harris SP, Granzier H. Thin filament length in the cardiac sarcomere varies with sarcomere length but is independent of titin and nebulin. J Mol Cell Cardiol 2016;97:286-94. [PMID: 27139341 DOI: 10.1016/j.yjmcc.2016.04.013] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 2.7] [Reference Citation Analysis]
28 Qiu B, Ruston J, Granzier H, Justice MJ, Dowling JJ. Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease. Biol Open 2019;8:bio044867. [PMID: 31530540 DOI: 10.1242/bio.044867] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
29 Almobarak S, Hu J, Langdon KD, Ang LC, Campbell C. α-tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy. Clin Case Rep 2021;9:1672-6. [PMID: 33768912 DOI: 10.1002/ccr3.3866] [Reference Citation Analysis]
30 Ahram DF, Grozdanic SD, Kecova H, Henkes A, Collin RW, Kuehn MH. Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds. PLoS One 2015;10:e0126660. [PMID: 25938837 DOI: 10.1371/journal.pone.0126660] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 2.6] [Reference Citation Analysis]
31 Zhang YL, Zhen L, Xu LL, Li DZ. Fetal akinesia: The need for clinical vigilance in first trimester with decreased fetal movements. Taiwan J Obstet Gynecol 2021;60:559-62. [PMID: 33966749 DOI: 10.1016/j.tjog.2021.03.032] [Reference Citation Analysis]
32 Liewluck T, Sorenson EJ, Walkiewicz MA, Rumilla KM, Milone M. Autosomal dominant distal myopathy due to a novel ACTA1 mutation. Neuromuscul Disord 2017;27:742-6. [PMID: 28606400 DOI: 10.1016/j.nmd.2017.05.003] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 2.8] [Reference Citation Analysis]
33 Oliveira J, Gonçalves A, Taipa R, Melo-Pires M, Oliveira ME, Costa JL, Machado JC, Medeiros E, Coelho T, Santos M, Santos R, Sousa M. New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. J Hum Genet 2016;61:497-505. [PMID: 26841830 DOI: 10.1038/jhg.2016.2] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
34 Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B. Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. Neuromuscul Disord 2019;29:97-107. [PMID: 30679003 DOI: 10.1016/j.nmd.2018.12.007] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
35 Marston S. Obscurin variants and inherited cardiomyopathies. Biophys Rev 2017;9:239-43. [PMID: 28510120 DOI: 10.1007/s12551-017-0264-8] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 2.6] [Reference Citation Analysis]
36 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]
37 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]
38 Moreau-Le Lan S, Aller E, Calabria I, Gonzalez-Tarancon L, Cardona-Gay C, Martinez-Matilla M, Aparisi MJ, Selles J, Sagath L, Pitarch I, Muelas N, Cervera JV, Millan JM, Pedrola L. New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. PLoS One 2018;13:e0207296. [PMID: 30517146 DOI: 10.1371/journal.pone.0207296] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
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40 Malfatti E, Romero NB. Nemaline myopathies: State of the art. Rev Neurol (Paris) 2016;172:614-9. [PMID: 27659899 DOI: 10.1016/j.neurol.2016.08.004] [Cited by in Crossref: 29] [Cited by in F6Publishing: 21] [Article Influence: 4.8] [Reference Citation Analysis]
41 Yuen M, Ottenheijm CAC. Nebulin: big protein with big responsibilities. J Muscle Res Cell Motil 2020;41:103-24. [PMID: 31982973 DOI: 10.1007/s10974-019-09565-3] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
42 Mubaraki AA. Nemaline Myopathy: A Case Report. Case Rep Neurol 2021;13:499-503. [PMID: 34413753 DOI: 10.1159/000517898] [Reference Citation Analysis]
43 Tian X, Liang WC, Feng Y, Wang J, Zhang VW, Chou CH, Huang HD, Lam CW, Hsu YY, Lin TS, Chen WT, Wong LJ, Jong YJ. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet 2015;1:e14. [PMID: 27066551 DOI: 10.1212/NXG.0000000000000015] [Cited by in Crossref: 37] [Cited by in F6Publishing: 19] [Article Influence: 5.3] [Reference Citation Analysis]
44 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]
45 Välipakka S, Savarese M, Sagath L, Arumilli M, Giugliano T, Udd B, Hackman P. Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model. The Journal of Molecular Diagnostics 2020;22:40-9. [DOI: 10.1016/j.jmoldx.2019.08.009] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
46 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]
47 Lindqvist J, Lee EJ, Karimi E, Kolb J, Granzier H. Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy. PLoS One 2019;14:e0224467. [PMID: 31721788 DOI: 10.1371/journal.pone.0224467] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
48 Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. Clinical utility gene card for: Nemaline myopathy - update 2015. Eur J Hum Genet 2015;23. [PMID: 25712079 DOI: 10.1038/ejhg.2015.12] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.1] [Reference Citation Analysis]
49 Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Panorama of the distal myopathies. Acta Myol 2020;39:245-65. [PMID: 33458580 DOI: 10.36185/2532-1900-028] [Cited by in F6Publishing: 5] [Reference Citation Analysis]
50 Wen Q, Chang X, Guo J. A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. Acta Neurol Belg 2020;120:1351-60. [PMID: 31696431 DOI: 10.1007/s13760-019-01230-3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
51 Laitila J, Lehtonen J, Lehtokari VL, Sagath L, Wallgren-Pettersson C, Grönholm M, Pelin K. A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region. Muscle Nerve 2019;59:116-21. [PMID: 30265400 DOI: 10.1002/mus.26350] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 2.5] [Reference Citation Analysis]
52 Sagath L, Lehtokari VL, Wallgren-Pettersson C, Pelin K, Kiiski K. A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region. PLoS One 2022;17:e0267793. [PMID: 35576196 DOI: 10.1371/journal.pone.0267793] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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54 Pelin K. Nebulin: Size matters for optimal muscle function. J Gen Physiol 2021;153:e202012848. [PMID: 33533889 DOI: 10.1085/jgp.202012848] [Reference Citation Analysis]
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57 Wang H, Nie X, Li X, Fang Y, Wang D, Wang W, Hu Y, Liu Z, Cao C. Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice. Med Sci Monit 2020;26:e922953. [PMID: 32390000 DOI: 10.12659/MSM.922953] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
58 Li F, Kolb J, Crudele J, Tonino P, Hourani Z, Smith JE 3rd, Chamberlain JS, Granzier H. Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function. Skelet Muscle 2020;10:2. [PMID: 31992366 DOI: 10.1186/s13395-019-0219-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
59 Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N. RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genet Med 2019;21:1629-38. [PMID: 30467404 DOI: 10.1038/s41436-018-0360-6] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 3.0] [Reference Citation Analysis]
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