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For: Chae JH, Vasta V, Cho A, Lim BC, Zhang Q, Eun SH, Hahn SH. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J Med Genet 2015;52:208-16. [DOI: 10.1136/jmedgenet-2014-102819] [Cited by in Crossref: 67] [Cited by in F6Publishing: 60] [Article Influence: 9.6] [Reference Citation Analysis]
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3 Ronchi D, Liu C, Caporali L, Piga D, Li H, Tagliavini F, Valentino ML, Ferrò MT, Bini P, Zheng L, Carelli V, Shen B, Comi GP. Novel mutations in DNA2 associated with myopathy and mtDNA instability. Ann Clin Transl Neurol 2019;6:1893-9. [PMID: 31478350 DOI: 10.1002/acn3.50888] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
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5 Hsueh HW, Weng WC, Fan PC, Chien YH, Yang FJ, Lee WT, Lin RJ, Hwu WL, Yang CC, Lee NC. The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis. J Formos Med Assoc 2022:S0929-6646(22)00252-2. [PMID: 35821219 DOI: 10.1016/j.jfma.2022.06.012] [Reference Citation Analysis]
6 Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. Am J Hum Genet 2019;104:466-83. [PMID: 30827497 DOI: 10.1016/j.ajhg.2019.01.012] [Cited by in Crossref: 113] [Cited by in F6Publishing: 90] [Article Influence: 37.7] [Reference Citation Analysis]
7 Nigro V, Savarese M. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol 2016;29:621-7. [PMID: 27454578 DOI: 10.1097/WCO.0000000000000371] [Cited by in Crossref: 28] [Cited by in F6Publishing: 18] [Article Influence: 7.0] [Reference Citation Analysis]
8 Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet 2016;53:98-110. [PMID: 26502894 DOI: 10.1136/jmedgenet-2015-103302] [Cited by in Crossref: 63] [Cited by in F6Publishing: 56] [Article Influence: 9.0] [Reference Citation Analysis]
9 Barp A, Mosca L, Sansone VA. Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders. Diagnostics (Basel) 2021;11:701. [PMID: 33919863 DOI: 10.3390/diagnostics11040701] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 O'Connor E, Töpf A, Müller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmüller H. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain 2016;139:2143-53. [PMID: 27259756 DOI: 10.1093/brain/aww130] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 5.7] [Reference Citation Analysis]
11 Yu X, Chen B, Tang H, Li W, Fu Y, Zhang Z, Yan Y. A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V. Front Neurol 2018;9:571. [PMID: 30083128 DOI: 10.3389/fneur.2018.00571] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
12 Bao M, Mao F, Zhao Z, Ma G, Xu G, Xu W, Chen H, Zhu M. COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report. BMC Neurol 2019;19:32. [PMID: 30808312 DOI: 10.1186/s12883-019-1263-0] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
13 Xu J, Li Z, Ren X, Dong M, Li J, Shi X, Zhang Y, Xie W, Sun Z, Liu X, Dai Q. Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing. Sci Rep 2015;5:16609. [PMID: 26573135 DOI: 10.1038/srep16609] [Cited by in Crossref: 30] [Cited by in F6Publishing: 31] [Article Influence: 4.3] [Reference Citation Analysis]
14 Saat H, Sahin I. Mutation spectrum of hereditary myopathies in Turkish patients and novel variants. Ann Hum Genet 2021;85:178-85. [PMID: 33963534 DOI: 10.1111/ahg.12429] [Reference Citation Analysis]
15 Barbosa-gouveia S, Vázquez-mosquera ME, González-vioque E, Hermida-ameijeiras Á, Sánchez-pintos P, de Castro MJ, León SR, Gil-fournier B, Domínguez-gonzález C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies. JCM 2022;11:2750. [DOI: 10.3390/jcm11102750] [Reference Citation Analysis]
16 Lee JH, Shin HY, Park HJ, Kim SH, Kim SM, Choi YC. Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. J Clin Neurol 2017;13:331-9. [PMID: 28831785 DOI: 10.3988/jcn.2017.13.4.331] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
17 O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 2016;99:1086-105. [PMID: 27745833 DOI: 10.1016/j.ajhg.2016.09.005] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 5.3] [Reference Citation Analysis]
18 Kitamura Y, Kondo E, Urano M, Aoki R, Saito K. Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. J Hum Genet 2016;61:931-42. [PMID: 27357428 DOI: 10.1038/jhg.2016.79] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 2.2] [Reference Citation Analysis]
19 González-Del Angel A, Bisciglia M, Vargas-Cañas S, Fernandez-Valverde F, Kazakova E, Escobar RE, Romero NB, Jardel C, Rucheton B, Stojkovic T, Malfatti E. Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants. Front Neurol 2019;10:1049. [PMID: 31636600 DOI: 10.3389/fneur.2019.01049] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
20 Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, Cossée M. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families. Genes (Basel) 2021;12:1199. [PMID: 34440373 DOI: 10.3390/genes12081199] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
21 Roucher Boulez F, Menassa R, Streichenberger N, Manel V, Mallet-motak D, Morel Y, Michel-calemard L. A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis. Clinica Chimica Acta 2015;448:146-9. [DOI: 10.1016/j.cca.2015.07.002] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 0.9] [Reference Citation Analysis]
22 Vill K, Blaschek A, Gläser D, Kuhn M, Haack T, Alhaddad B, Wagner M, Kovacs-Nagy R, Tacke M, Gerstl L, Schroeder AS, Borggraefe I, Mueller C, Schlotter-Weigel B, Schoser B, Walter MC, Müller-Felber W. Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany. J Neuromuscul Dis 2017;4:315-25. [PMID: 29172004 DOI: 10.3233/JND-170231] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
23 Irumudomon OT, Ghosh PS. Electromyography in infants: experience from a pediatric neuromuscular center. Acta Neurol Belg 2021. [PMID: 33891285 DOI: 10.1007/s13760-021-01681-7] [Reference Citation Analysis]
24 van Dongen JJM, van der Burg M, Kalina T, Perez-Andres M, Mejstrikova E, Vlkova M, Lopez-Granados E, Wentink M, Kienzler AK, Philippé J, Sousa AE, van Zelm MC, Blanco E, Orfao A. EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System. Front Immunol 2019;10:1271. [PMID: 31263462 DOI: 10.3389/fimmu.2019.01271] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 3.7] [Reference Citation Analysis]
25 Phowthongkum P, Sun A. Novel truncating variant in DNA2-related congenital onset myopathy and ptosis suggests genotype-phenotype correlation. Neuromuscul Disord 2017;27:616-8. [PMID: 28554558 DOI: 10.1016/j.nmd.2017.03.013] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.4] [Reference Citation Analysis]
26 Haskell GT, Adams MC, Fan Z, Amin K, Guzman Badillo RJ, Zhou L, Bizon C, Chahin N, Greenwood RS, Milko LV, Shiloh-Malawsky Y, Crooks KR, Strande N, Tennison M, Tilley CR, Brandt A, Wilhelmsen KC, Weck K, Evans JP, Berg JS. Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. Neurol Genet 2018;4:e212. [PMID: 29417091 DOI: 10.1212/NXG.0000000000000212] [Cited by in Crossref: 27] [Cited by in F6Publishing: 12] [Article Influence: 6.8] [Reference Citation Analysis]
27 Hu P, Yuan L, Deng H. Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies. Mutat Res Rev Mutat Res 2018;778:45-50. [PMID: 30454682 DOI: 10.1016/j.mrrev.2018.09.002] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
28 Winder TL, Tan CA, Klemm S, White H, Westbrook JM, Wang JZ, Entezam A, Truty R, Nussbaum RL, McNally EM, Aradhya S. Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. Neurol Genet 2020;6:e412. [PMID: 32337338 DOI: 10.1212/NXG.0000000000000412] [Cited by in Crossref: 10] [Cited by in F6Publishing: 2] [Article Influence: 5.0] [Reference Citation Analysis]
29 Yu M, Zheng Y, Jin S, Gang Q, Wang Q, Yu P, Lv H, Zhang W, Yuan Y, Wang Z. Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. PLoS One 2017;12:e0175343. [PMID: 28403181 DOI: 10.1371/journal.pone.0175343] [Cited by in Crossref: 31] [Cited by in F6Publishing: 30] [Article Influence: 6.2] [Reference Citation Analysis]
30 Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT. Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. Genome Med 2015;7:130. [PMID: 26684649 DOI: 10.1186/s13073-015-0244-1] [Cited by in Crossref: 27] [Cited by in F6Publishing: 22] [Article Influence: 3.9] [Reference Citation Analysis]
31 Efthymiou S, Manole A, Houlden H. Next-generation sequencing in neuromuscular diseases. Curr Opin Neurol 2016;29:527-36. [PMID: 27588584 DOI: 10.1097/WCO.0000000000000374] [Cited by in Crossref: 23] [Cited by in F6Publishing: 10] [Article Influence: 5.8] [Reference Citation Analysis]
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33 Park HJ, Jang H, Kim JH, Lee JH, Shin HY, Kim SM, Park KD, Yim SV, Lee JH, Choi YC. Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. Clin Genet 2017;91:403-10. [PMID: 27363342 DOI: 10.1111/cge.12826] [Cited by in Crossref: 12] [Cited by in F6Publishing: 14] [Article Influence: 2.0] [Reference Citation Analysis]
34 Kim Y, Lee Y, Park JH, Lee H, Cheon CK, Kim S, Hwang J, Jang J, Yoo H. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing: KIM et al. Clin Genet 2017;92:594-605. [DOI: 10.1111/cge.13038] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.8] [Reference Citation Analysis]
35 Zhang J, Wang H, Liu W, Wang J, Zhang J, Chang X, Huang S, Pang X, Guo J, Wang Q, Zhang W. A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family. Neurol Sci 2021;42:3695-705. [DOI: 10.1007/s10072-020-04962-w] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
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37 Cotta A, Souza LS, Carvalho E, Feitosa LN, Cunha A, Navarro MM, Valicek J, Menezes MM, Neves SVN, Xavier-neto R, Vargas AP, Takata RI, Paim JF, Vainzof M. Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms. Genes 2022;13:760. [DOI: 10.3390/genes13050760] [Reference Citation Analysis]
38 Lee HN, Lee Y. Integrated diagnostic approach of pediatric neuromuscular disorders. J Genet Med 2018;15:55-63. [DOI: 10.5734/jgm.2018.15.2.55] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
39 Krenn M, Tomschik M, Rath J, Cetin H, Grisold A, Zulehner G, Milenkovic I, Stogmann E, Zimprich A, Strom TM, Meitinger T, Wagner M, Zimprich F. Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach. Eur J Neurol 2020;27:51-61. [PMID: 31407473 DOI: 10.1111/ene.14033] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
40 Gemelli C, Traverso M, Trevisan L, Fabbri S, Scarsi E, Carlini B, Prada V, Mongini T, Ruggiero L, Patrone S, Gallone S, Iodice R, Pisciotta L, Zara F, Origone P, Rota E, Minetti C, Bruno C, Schenone A, Mandich P, Fiorillo C, Grandis M. An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia. Muscle Nerve 2021. [PMID: 34687219 DOI: 10.1002/mus.27448] [Reference Citation Analysis]
41 Hudson JJR, Rass U. DNA2 in Chromosome Stability and Cell Survival-Is It All about Replication Forks? Int J Mol Sci 2021;22:3984. [PMID: 33924313 DOI: 10.3390/ijms22083984] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
42 Tan CA, Westbrook MJ, Truty R, Kvitek DJ, Kennemer M, Winder TL, Shieh PB. Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders. Genet Test Mol Biomarkers 2020;24:616-24. [PMID: 32721234 DOI: 10.1089/gtmb.2019.0282] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
43 Zhang S, Lei L, Fan Z, Su S, Duo J, Luan Q, Lu Y, Di L, Wang M, Da Y. Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies. Front Neurol 2021;12:766942. [PMID: 34867752 DOI: 10.3389/fneur.2021.766942] [Reference Citation Analysis]
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46 Stehlíková K, Skálová D, Zídková J, Haberlová J, Voháňka S, Mazanec R, Mrázová L, Vondráček P, Ošlejšková H, Zámečník J, Honzík T, Zeman J, Magner M, Šišková D, Langová M, Gregor V, Godava M, Smolka V, Fajkusová L. Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. Clin Genet 2017;91:463-9. [PMID: 27447704 DOI: 10.1111/cge.12839] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 3.3] [Reference Citation Analysis]
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48 Vázquez J, Lefeuvre C, Escobar RE, Luna Angulo AB, Miranda Duarte A, Delia Hernandez A, Brisset M, Carlier RY, Leturcq F, Durand-Canard MC, Nicolas G, Laforet P, Malfatti E. Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations. J Neuromuscul Dis 2020;7:443-51. [PMID: 32925086 DOI: 10.3233/JND-200515] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
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