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For: Ravenscroft G, Davis MR, Lamont P, Forrest A, Laing NG. New era in genetics of early-onset muscle disease: Breakthroughs and challenges. Semin Cell Dev Biol 2017;64:160-70. [PMID: 27519468 DOI: 10.1016/j.semcdb.2016.08.002] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
Number Citing Articles
1 Winters L, Van Hoof E, De Catte L, Van Den Bogaert K, de Ravel T, De Waele L, Corveleyn A, Breckpot J. Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. European Journal of Paediatric Neurology 2017;21:745-53. [DOI: 10.1016/j.ejpn.2017.04.641] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.8] [Reference Citation Analysis]
2 Hackman P, Udd B, Bönnemann CG, Ferreiro A; Titinopathy Database Consortium. 219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016. Neuromuscul Disord 2017;27:396-407. [PMID: 28214268 DOI: 10.1016/j.nmd.2017.01.009] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 4.0] [Reference Citation Analysis]
3 Masri AT, Oweis L, Qudah AA, El-shanti H. Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources. Clinical Neurology and Neurosurgery 2022;217:107271. [DOI: 10.1016/j.clineuro.2022.107271] [Reference Citation Analysis]
4 Dusanic M, Dekomien G, Lücke T, Vorgerd M, Weis J, Epplen JT, Köhler C, Hoffjan S. Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature. Mol Syndromol 2018;9:100-9. [PMID: 29593477 DOI: 10.1159/000485881] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 2.5] [Reference Citation Analysis]
5 Kalfon L, Baydany M, Samra N, Heno N, Segal Z, Eran A, Yulevich A, Fellig Y, Mandel H, Falik-Zaccai TC. Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants. Mol Genet Genomic Med 2021;:e1849. [PMID: 34970863 DOI: 10.1002/mgg3.1849] [Reference Citation Analysis]
6 Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG. Recent advances in understanding congenital myopathies. F1000Res 2018;7:F1000 Faculty Rev-1921. [PMID: 30631434 DOI: 10.12688/f1000research.16422.1] [Cited by in Crossref: 12] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
7 Pitt MC. Use of stimulated electromyography in the analysis of the neuromuscular junction in children. Muscle Nerve 2017;56:841-7. [DOI: 10.1002/mus.25685] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
8 Xu H, Liu H, Chen T, Song B, Zhu J, Liu X, Li M, Luo C. The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications. Genes Dis 2021;8:715-20. [PMID: 34291143 DOI: 10.1016/j.gendis.2020.01.010] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
9 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]
10 Sagath L, Lehtokari VL, Välipakka S, Udd B, Wallgren-Pettersson C, Pelin K, Kiiski K. An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders. J Neuromuscul Dis 2018;5:307-14. [PMID: 30040739 DOI: 10.3233/JND-170298] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
11 Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Hum Mol Genet 2018;27:4263-72. [PMID: 30215711 DOI: 10.1093/hmg/ddy320] [Cited by in Crossref: 6] [Cited by in F6Publishing: 13] [Article Influence: 2.0] [Reference Citation Analysis]
12 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]
13 Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G. Genetics of neuromuscular fetal akinesia in the genomics era. J Med Genet 2018;55:505-14. [PMID: 29959180 DOI: 10.1136/jmedgenet-2018-105266] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 4.8] [Reference Citation Analysis]
14 Brackmann F, Türk M, Gratzki N, Rompel O, Jungbluth H, Schröder R, Trollmann R. Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding. Neuromuscul Disord 2018;28:54-8. [PMID: 29169929 DOI: 10.1016/j.nmd.2017.09.009] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]