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For: Böhm J, Vasli N, Malfatti E, Le Gras S, Feger C, Jost B, Monnier N, Brocard J, Karasoy H, Gérard M, Walter MC, Reilich P, Biancalana V, Kretz C, Messaddeq N, Marty I, Lunardi J, Romero NB, Laporte J. An integrated diagnosis strategy for congenital myopathies. PLoS One 2013;8:e67527. [PMID: 23826317 DOI: 10.1371/journal.pone.0067527] [Cited by in Crossref: 41] [Cited by in F6Publishing: 40] [Article Influence: 4.6] [Reference Citation Analysis]
Number Citing Articles
1 Biancalana V, Laporte J. Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis. J Neuromuscul Dis 2015;2:193-203. [PMID: 27858740 DOI: 10.3233/JND-150092] [Cited by in Crossref: 14] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
2 Jungbluth H, Wallgren-Pettersson C, Laporte JF; Centronuclear (Myotubular) myopathy Consortium. 198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May - 2nd June 2013, Naarden, The Netherlands. Neuromuscul Disord 2013;23:1033-43. [PMID: 24070817 DOI: 10.1016/j.nmd.2013.08.006] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
3 Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D. Next-generation sequencing approach to hyperCKemia: A 2-year cohort study. Neurol Genet 2019;5:e352. [PMID: 31517061 DOI: 10.1212/NXG.0000000000000352] [Cited by in Crossref: 8] [Cited by in F6Publishing: 1] [Article Influence: 2.7] [Reference Citation Analysis]
4 Riazi S, Kraeva N, Hopkins PM. Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept. Anesthesiology 2018;128:168-80. [PMID: 28902675 DOI: 10.1097/ALN.0000000000001878] [Cited by in Crossref: 65] [Cited by in F6Publishing: 22] [Article Influence: 13.0] [Reference Citation Analysis]
5 Remiche G, Kadhim H, Abramowicz M, Mavroudakis N, Monnier N, Lunardi J. A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy. Neuromuscul Disord 2015;25:397-402. [PMID: 25747005 DOI: 10.1016/j.nmd.2015.01.016] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
6 Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Albayrak HM, Radhakrishnan P, Erdem HB, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Tsiakas K, Hempel M, Girisha KM, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet 2019;105:132-50. [PMID: 31230720 DOI: 10.1016/j.ajhg.2019.05.015] [Cited by in Crossref: 56] [Cited by in F6Publishing: 45] [Article Influence: 18.7] [Reference Citation Analysis]
7 Lee JM, Noguchi S. Calcium Dyshomeostasis in Tubular Aggregate Myopathy. Int J Mol Sci 2016;17:E1952. [PMID: 27879676 DOI: 10.3390/ijms17111952] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
8 Mah JK, Joseph JT. An Overview of Congenital Myopathies. Continuum (Minneap Minn). 2016;22:1932-1953. [PMID: 27922501 DOI: 10.1212/con.0000000000000404] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
9 Zhao Y, Zhao Z, Shen H, Bing Q, Hu J. Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients. Neurol Sci 2018;39:2043-51. [PMID: 30232666 DOI: 10.1007/s10072-018-3534-8] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
10 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]
11 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]
12 Hadiatullah H, He Z, Yuchi Z. Structural Insight Into Ryanodine Receptor Channelopathies. Front Pharmacol 2022;13:897494. [DOI: 10.3389/fphar.2022.897494] [Reference Citation Analysis]
13 Gardner L, Miller DM, Daly C, Gupta PK, House C, Roiz de Sa D, Shaw M, Hopkins PM. Investigating the genetic susceptibility to exertional heat illness. J Med Genet 2020;57:531-41. [DOI: 10.1136/jmedgenet-2019-106461] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
14 Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-mallebrera C, Colomer J, Lochmüller H. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. J Neurol 2016;263:517-23. [DOI: 10.1007/s00415-015-8015-x] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 3.0] [Reference Citation Analysis]
15 Jakaitiene A, Avino M, Guarracino MR. Beta-Binomial Model for the Detection of Rare Mutations in Pooled Next-Generation Sequencing Experiments. J Comput Biol 2017;24:357-67. [PMID: 27632638 DOI: 10.1089/cmb.2016.0106] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
16 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]
17 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]
18 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]
19 Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB. Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. Acta Neuropathol Commun 2014;2:44. [PMID: 24725366 DOI: 10.1186/2051-5960-2-44] [Cited by in Crossref: 58] [Cited by in F6Publishing: 48] [Article Influence: 7.3] [Reference Citation Analysis]
20 Smith BK, Goddard M, Childers MK. Respiratory assessment in centronuclear myopathies. Muscle Nerve 2014;50:315-26. [PMID: 24668768 DOI: 10.1002/mus.24249] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 1.1] [Reference Citation Analysis]
21 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]
22 Romero NB, Sandaradura SA, Clarke NF. Recent advances in nemaline myopathy. Curr Opin Neurol 2013;26:519-26. [PMID: 23995272 DOI: 10.1097/WCO.0b013e328364d681] [Cited by in Crossref: 51] [Cited by in F6Publishing: 19] [Article Influence: 6.4] [Reference Citation Analysis]
23 Zhou Y, Ma D, Lin L, You M, Yuchi Z, You S. Crystal Structure of the Ryanodine Receptor SPRY2 Domain from the Diamondback Moth Provides Insights into the Development of Novel Insecticides. J Agric Food Chem 2020;68:1731-40. [PMID: 31951399 DOI: 10.1021/acs.jafc.9b08151] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
24 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]
25 Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari M, Kahrizi K, Kariminejad A, Najmabadi H. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clin Genet 2016;91:386-402. [DOI: 10.1111/cge.12810] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 4.0] [Reference Citation Analysis]
26 Tsunoda K, Yamashita T, Motokura E, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Ohta Y, Nishikawa A, Nishino I, Abe K. A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. J Neurol Sci 2017;373:254-7. [PMID: 28131200 DOI: 10.1016/j.jns.2016.12.069] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
27 Bauerová-Hlinková V, Hajdúchová D, Bauer JA. Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives. Molecules 2020;25:E4040. [PMID: 32899693 DOI: 10.3390/molecules25184040] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
28 Romero NB, Xie T, Malfatti E, Schaeffer U, Böhm J, Wu B, Xu F, Boucebci S, Mathis S, Neau JP, Monnier N, Fardeau M, Laporte J. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. J Neurol Neurosurg Psychiatry 2014;85:1149-52. [PMID: 24828896 DOI: 10.1136/jnnp-2013-306754] [Cited by in Crossref: 17] [Cited by in F6Publishing: 13] [Article Influence: 2.1] [Reference Citation Analysis]
29 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]
30 Donkervoort S, Dowling JJ, Laporte J, MacArthur D, Bönnemann CG; 214th ENMC workshop participants. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscul Disord 2019;29:644-50. [PMID: 31400830 DOI: 10.1016/j.nmd.2019.07.002] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
31 Lau K, Van Petegem F. Crystal structures of wild type and disease mutant forms of the ryanodine receptor SPRY2 domain. Nat Commun 2014;5. [DOI: 10.1038/ncomms6397] [Cited by in Crossref: 46] [Cited by in F6Publishing: 42] [Article Influence: 5.8] [Reference Citation Analysis]
32 Malfatti E, Monges S, Lehtokari V, Schaeffer U, Abath Neto O, Kiiski K, Lubieniecki F, Taratuto AL, Wallgren-pettersson C, Laporte J, Romero NB. Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy. European Journal of Medical Genetics 2015;58:556-61. [DOI: 10.1016/j.ejmg.2015.09.009] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 1.6] [Reference Citation Analysis]
33 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] [Reference Citation Analysis]
34 Gorokhova S, Biancalana V, Lévy N, Laporte J, Bartoli M, Krahn M. Clinical massively parallel sequencing for the diagnosis of myopathies. Rev Neurol (Paris) 2015;171:558-71. [PMID: 26022190 DOI: 10.1016/j.neurol.2015.02.019] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 1.1] [Reference Citation Analysis]
35 Yang HM, Guo JX, Yang YM. Congenital fiber-type disproportion presenting with type II respiratory failure after delivery: A case report. World J Clin Cases 2021; 9(7): 1748-1754 [PMID: 33728321 DOI: 10.12998/wjcc.v9.i7.1748] [Reference Citation Analysis]
36 Abath Neto O, Tassy O, Biancalana V, Zanoteli E, Pourquié O, Laporte J. Integrative data mining highlights candidate genes for monogenic myopathies. PLoS One 2014;9:e110888. [PMID: 25353622 DOI: 10.1371/journal.pone.0110888] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 1.3] [Reference Citation Analysis]
37 Gaspar BL. A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications. Neuropathology 2020;40:367-72. [PMID: 32187740 DOI: 10.1111/neup.12648] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
38 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]
39 Arvanitidis A, Henriksen K, Karsdal MA, Nedergaard A. Neo-epitope Peptides as Biomarkers of Disease Progression for Muscular Dystrophies and Other Myopathies. J Neuromuscul Dis 2016;3:333-46. [PMID: 27854226 DOI: 10.3233/JND-160150] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.8] [Reference Citation Analysis]
40 Meunier J, Villar-Quiles RN, Duband-Goulet I, Ferreiro A. Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases. Int J Mol Sci 2021;22:6039. [PMID: 34204919 DOI: 10.3390/ijms22116039] [Reference Citation Analysis]
41 Fogel BL. Genetic and genomic testing for neurologic disease in clinical practice. Handb Clin Neurol 2018;147:11-22. [PMID: 29325607 DOI: 10.1016/B978-0-444-63233-3.00002-6] [Cited by in Crossref: 12] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
42 Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT. RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015;22:1094-1112. [PMID: 25960145 DOI: 10.1111/ene.12713] [Cited by in Crossref: 71] [Cited by in F6Publishing: 61] [Article Influence: 10.1] [Reference Citation Analysis]