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For: Colombo I, Scoto M, Manzur AY, Robb SA, Maggi L, Gowda V, Cullup T, Yau M, Phadke R, Sewry C, Jungbluth H, Muntoni F. Congenital myopathies: Natural history of a large pediatric cohort. Neurology 2015;84:28-35. [PMID: 25428687 DOI: 10.1212/WNL.0000000000001110] [Cited by in Crossref: 71] [Cited by in F6Publishing: 28] [Article Influence: 8.9] [Reference Citation Analysis]
Number Citing Articles
1 Werlauff U, Hansen PD, Witting N, Vissing J. Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies. J Neuromuscul Dis 2021;8:647-55. [PMID: 33646172 DOI: 10.3233/JND-200574] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
2 Argov Z, de Visser M. Dysphagia in adult myopathies. Neuromuscul Disord 2021;31:5-20. [PMID: 33334661 DOI: 10.1016/j.nmd.2020.11.001] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
3 Adaikina A, Derraik JGB, Power LC, Grady GO, Munns CF, Hofman PL, Gusso S. Feasibility, safety, and efficacy of 12 weeks side-to-side vibration therapy in children and adolescents with congenital myopathy in New Zealand. Neuromuscular Disorders 2022. [DOI: 10.1016/j.nmd.2022.07.398] [Reference Citation Analysis]
4 Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M. Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls. Neurol Genet 2019;5:e341. [PMID: 31321302 DOI: 10.1212/NXG.0000000000000341] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
5 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]
6 Witting N, Werlauff U, Duno M, Vissing J. Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. Neurol Genet. 2017;3:e140. [PMID: 28357410 DOI: 10.1212/nxg.0000000000000140] [Cited by in Crossref: 22] [Cited by in F6Publishing: 12] [Article Influence: 4.4] [Reference Citation Analysis]
7 Cerda-Gonzalez S, Talarico L, Todhunter R. Noninvasive Assessment of Neuromuscular Disease in Dogs: Use of the 6-minute Walk Test to Assess Submaximal Exercise Tolerance in Dogs with Centronuclear Myopathy. J Vet Intern Med 2016;30:808-12. [PMID: 27012153 DOI: 10.1111/jvim.13939] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
8 Lotta S, Lisa B. Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021. JND 2022. [DOI: 10.3233/jnd-210772] [Reference Citation Analysis]
9 van de Locht M, Borsboom TC, Winter JM, Ottenheijm CAC. Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics. Int J Mol Sci 2021;22:9187. [PMID: 34502093 DOI: 10.3390/ijms22179187] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Dowling JJ, Weihl CC, Spencer MJ. Molecular and cellular basis of genetically inherited skeletal muscle disorders. Nat Rev Mol Cell Biol 2021. [PMID: 34257452 DOI: 10.1038/s41580-021-00389-z] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
11 Bartels EM, Andersen EL, Olsen JK, Kristensen LE, Bliddal H, Danneskiold-Samsøe B, Harrison AP. Muscle assessment using multi-frequency bioimpedance in a healthy Danish population aged 20-69 years: a powerful non-invasive tool in sports and in the clinic. Physiol Rep 2019;7:e14109. [PMID: 31197976 DOI: 10.14814/phy2.14109] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
12 de Winter JM, Ottenheijm CAC. Sarcomere Dysfunction in Nemaline Myopathy. J Neuromuscul Dis. 2017;4:99-113. [PMID: 28436394 DOI: 10.3233/jnd-160200] [Cited by in Crossref: 25] [Cited by in F6Publishing: 17] [Article Influence: 8.3] [Reference Citation Analysis]
13 Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei LaPierre L, Dowling JJ, Dirksen RT. Mouse model of severe recessive RYR1-related myopathy. Hum Mol Genet 2019;28:3024-36. [PMID: 31107960 DOI: 10.1093/hmg/ddz105] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 5.5] [Reference Citation Analysis]
14 Fay AJ. Neuromuscular Diseases of the Newborn. Semin Pediatr Neurol 2019;32:100771. [PMID: 31813523 DOI: 10.1016/j.spen.2019.08.007] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
15 Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, Chrismer IC, Zhang X, Cosgrove MM, Kuo A, Vasavada R, Jain MS, Waite M, Rajapakse D, Witherspoon JW, Wistow G, Meilleur KG. Correlation of phenotype with genotype and protein structure in RYR1-related disorders. J Neurol 2018;265:2506-24. [PMID: 30155738 DOI: 10.1007/s00415-018-9033-2] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 2.8] [Reference Citation Analysis]
16 Maggi L, Bonanno S, Altamura C, Desaphy JF. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells 2021;10:1521. [PMID: 34208776 DOI: 10.3390/cells10061521] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
17 Dowling JJ, D Gonorazky H, Cohn RD, Campbell C. Treating pediatric neuromuscular disorders: The future is now. Am J Med Genet A 2018;176:804-41. [PMID: 28889642 DOI: 10.1002/ajmg.a.38418] [Cited by in Crossref: 45] [Cited by in F6Publishing: 34] [Article Influence: 9.0] [Reference Citation Analysis]
18 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]
19 Yi S, Zhang Y, Qin Z, Yi S, Zheng H, Luo J, Li Q, Wang J, Yang Q, Li M, Chen F, Zhang Q, Zhang Q, Shen Y. A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8. Mol Genet Genomic Med 2021;9:e1683. [PMID: 33978323 DOI: 10.1002/mgg3.1683] [Reference Citation Analysis]
20 Volpatti JR, Endo Y, Knox J, Groom L, Brennan S, Noche R, Zuercher WJ, Roy P, Dirksen RT, Dowling JJ. Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline. Elife 2020;9:e52946. [PMID: 32223895 DOI: 10.7554/eLife.52946] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
21 Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, Lawlor MW, Meyer OH, Nelson L, Sultanum N, Syed F, Tran T, Wang CH, Dowling JJ. A Cross-Sectional Study of Nemaline Myopathy. Neurology 2021;96:e1425-36. [PMID: 33397769 DOI: 10.1212/WNL.0000000000011458] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
22 de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest 2020;130:754-67. [PMID: 31671076 DOI: 10.1172/JCI124000] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 5.5] [Reference Citation Analysis]
23 Lawal TA, Todd JJ, Meilleur KG. Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. Neurotherapeutics 2018;15:885-99. [PMID: 30406384 DOI: 10.1007/s13311-018-00677-1] [Cited by in Crossref: 38] [Cited by in F6Publishing: 28] [Article Influence: 12.7] [Reference Citation Analysis]
24 Neuhaus SB, Wallgren-Pettersson C, Bönnemann CG, Schara U, Servais L; nemaline working group. 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands. Neuromuscul Disord 2020;30:866-75. [PMID: 32919842 DOI: 10.1016/j.nmd.2020.08.356] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
25 Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, Rutkowski A, Hornyak J, Beggs AH, Dowling JJ. A natural history study of X-linked myotubular myopathy. Neurology 2017;89:1355-64. [PMID: 28842446 DOI: 10.1212/WNL.0000000000004415] [Cited by in Crossref: 40] [Cited by in F6Publishing: 17] [Article Influence: 8.0] [Reference Citation Analysis]
26 Kim MJ, Kim MH, Park SH, Song YW. A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease. Pediatr Rheumatol Online J 2021;19:100. [PMID: 34193198 DOI: 10.1186/s12969-021-00598-y] [Reference Citation Analysis]
27 Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr. 2017;43:101. [PMID: 29141652 DOI: 10.1186/s13052-017-0419-z] [Cited by in Crossref: 37] [Cited by in F6Publishing: 26] [Article Influence: 7.4] [Reference Citation Analysis]
28 Dowling JJ, Riazi S, Litman RS. Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses. A A Pract 2021;15:e01377. [PMID: 33512901 DOI: 10.1213/XAA.0000000000001377] [Reference Citation Analysis]
29 Magee L, Bram JT, Anari JB, Ramo B, Mayer OH, Matsumoto H, Brooks JT, Andras L, Lark R, Fitzgerald R, Truong W, Li Y, Karlin L, Schwend R, Weinstein S, Roye D, Snyder B, Flynn JM, Oetgen M, Smith J, Cahill PJ; PSSG. Outcomes and Complications in Management of Congenital Myopathy Early-Onset Scoliosis. J Pediatr Orthop 2021;41:531-6. [PMID: 34325442 DOI: 10.1097/BPO.0000000000001922] [Reference Citation Analysis]
30 Finsterer J, Zarrouk-Mahjoub S. Letter to the Editor: Posterior spinal instrumented fusion for idiopathic scoliosis in patients with multisystemic neurodegenerative disorder: a report of two cases. J Orthop Surg (Hong Kong) 2016;24:428. [PMID: 28031522 DOI: 10.1177/1602400334] [Reference Citation Analysis]
31 Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA. Mutation-specific effects on thin filament length in thin filament myopathy. Ann Neurol 2016;79:959-69. [PMID: 27074222 DOI: 10.1002/ana.24654] [Cited by in Crossref: 40] [Cited by in F6Publishing: 37] [Article Influence: 6.7] [Reference Citation Analysis]
32 Gohlke J, Tonino P, Lindqvist J, Smith JE, Granzier H. The number of Z-repeats and super-repeats in nebulin greatly varies across vertebrates and scales with animal size. J Gen Physiol 2021;153:e202012783. [PMID: 33337482 DOI: 10.1085/jgp.202012783] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
33 de Winter JM, Gineste C, Minardi E, Brocca L, Rossi M, Borsboom T, Beggs AH, Bernard M, Bendahan D, Hwee DT, Malik FI, Pellegrino MA, Bottinelli R, Gondin J, Ottenheijm CAC. Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice. Hum Mol Genet 2021;30:1305-20. [PMID: 33909041 DOI: 10.1093/hmg/ddab112] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
34 Zhang Y, Yan H, Liu J, Yan H, Ma Y, Wei C, Wang Z, Xiong H, Chang X. Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre. BMC Pediatr 2022;22:65. [PMID: 35081925 DOI: 10.1186/s12887-021-03024-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
35 Kichula EA. Inherited Neuromuscular Disorders: Presentation, Diagnosis, and Advances in Treatment. Curr Pediatr Rep 2017;5:36-44. [DOI: 10.1007/s40124-017-0118-7] [Reference Citation Analysis]
36 Jeong HN, Park HJ, Lee JH, Shin HY, Kim SH, Kim SM, Choi YC. Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy. J Clin Neurol 2018;14:58-65. [PMID: 29629541 DOI: 10.3988/jcn.2018.14.1.58] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
37 Chang X, Wei R, Wei C, Liu J, Qin L, Yan H, Ma Y, Wang Z, Xiong H. Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy. Front Neurol 2022;13:870285. [DOI: 10.3389/fneur.2022.870285] [Reference Citation Analysis]
38 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]
39 Capella-Peris C, Cosgrove MM, Chrismer IC, Razaqyar MS, Elliott JS, Kuo A, Emile-Backer M, Meilleur KG. Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience. Patient 2020;13:423-34. [PMID: 32329019 DOI: 10.1007/s40271-020-00418-7] [Reference Citation Analysis]
40 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]
41 Witherspoon JW, Vuillerot C, Vasavada RP, Waite MR, Shelton M, Chrismer IC, Jain MS, Meilleur KG. Motor function performance in individuals with RYR1-related myopathies. Muscle Nerve 2019;60:80-7. [PMID: 31004442 DOI: 10.1002/mus.26491] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]