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For: Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132:3175-3186. [PMID: 19767415 DOI: 10.1093/brain/awp236] [Cited by in Crossref: 296] [Cited by in F6Publishing: 261] [Article Influence: 22.8] [Reference Citation Analysis]
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12 Zernov NV, Marakhonov AV, Vyakhireva JV, Guskova AA, Dadali EL, Skoblov MY. Clinical and genetic characteristics and diagnostic features of Landouzy–Dejerine facioscapulohumeral muscular dystrophy. Russ J Genet 2017;53:640-50. [DOI: 10.1134/s102279541706014x] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
13 Lionarons JM, de Groot IJM, Fock JM, Klinkenberg S, Vrijens DMJ, Vreugdenhil ACE, Medici-van den Herik EG, Cuppen I, Jaeger B, Niks EH, Hoogerhuis R, Platte-van Attekum N, Feron FJM, Faber CG, Hendriksen JGM, Vles JSH. Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire. Life (Basel) 2021;11:772. [PMID: 34440515 DOI: 10.3390/life11080772] [Reference Citation Analysis]
14 Narayanaswami P, Dubinsky R, Wang D, Gjorvad G, David W, Finder J, Smith B, Cheng J, Shapiro F, Mellion M, Spurney C, Wolff J, England J. Quality improvement in neurology: muscular dystrophy quality measures. Neurology 2015;85:905-9. [PMID: 26333798 DOI: 10.1212/WNL.0000000000001910] [Cited by in Crossref: 7] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
15 Houston MT, Gutierrez JB. The FRiND Model: A Mathematical Model for Representing Macrophage Plasticity in Muscular Dystrophy Pathogenesis. Bull Math Biol 2019;81:3976-97. [PMID: 31302876 DOI: 10.1007/s11538-019-00635-8] [Reference Citation Analysis]
16 Khedr EM, Fawi G, Abbas MA, Abo El-fetoh N, Zaki AF, Gamea A, Al Attar G. Prevalence of neuromuscular disorders in Qena governorate/Egypt: population-based survey. Neurological Research 2016;38:1056-63. [DOI: 10.1080/01616412.2016.1243640] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
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18 Morrow JM, Sinclair CD, Fischmann A, Machado PM, Reilly MM, Yousry TA, Thornton JS, Hanna MG. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol. 2016;15:65-77. [PMID: 26549782 DOI: 10.1016/s1474-4422(15)00242-2] [Cited by in Crossref: 166] [Cited by in F6Publishing: 84] [Article Influence: 23.7] [Reference Citation Analysis]
19 Butterfield RJ, Dunn DM, Hu Y, Johnson K, Bönnemann CG, Weiss RB. Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy. PLoS One 2017;12:e0189664. [PMID: 29244830 DOI: 10.1371/journal.pone.0189664] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 1.2] [Reference Citation Analysis]
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25 Tehrani KHN, Hajiloo M, Asadollahi E, Lagini FP. Prevalence of muscular dystrophy in patients with muscular disorders in Tehran, Iran. Eur J Transl Myol 2018;28:7380. [PMID: 29991987 DOI: 10.4081/ejtm.2018.7385] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
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27 Gustavsson A, Svensson M, Jacobi F, Allgulander C, Alonso J, Beghi E, Dodel R, Ekman M, Faravelli C, Fratiglioni L, Gannon B, Jones DH, Jennum P, Jordanova A, Jönsson L, Karampampa K, Knapp M, Kobelt G, Kurth T, Lieb R, Linde M, Ljungcrantz C, Maercker A, Melin B, Moscarelli M, Musayev A, Norwood F, Preisig M, Pugliatti M, Rehm J, Salvador-Carulla L, Schlehofer B, Simon R, Steinhausen HC, Stovner LJ, Vallat JM, Van den Bergh P, van Os J, Vos P, Xu W, Wittchen HU, Jönsson B, Olesen J; CDBE2010Study Group. Cost of disorders of the brain in Europe 2010. Eur Neuropsychopharmacol 2011;21:718-79. [PMID: 21924589 DOI: 10.1016/j.euroneuro.2011.08.008] [Cited by in Crossref: 918] [Cited by in F6Publishing: 755] [Article Influence: 83.5] [Reference Citation Analysis]
28 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]
29 Fusto A, Moyle LA, Gilbert PM, Pegoraro E. Cored in the act: the use of models to understand core myopathies. Dis Model Mech 2019;12:dmm041368. [PMID: 31874912 DOI: 10.1242/dmm.041368] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 3.0] [Reference Citation Analysis]
30 Sabatelli P, Gara SK, Grumati P, Urciuolo A, Gualandi F, Curci R, Squarzoni S, Zamparelli A, Martoni E, Merlini L, Paulsson M, Bonaldo P, Wagener R. Expression of the Collagen VI α5 and α6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies. Journal of Investigative Dermatology 2011;131:99-107. [DOI: 10.1038/jid.2010.284] [Cited by in Crossref: 53] [Cited by in F6Publishing: 47] [Article Influence: 4.8] [Reference Citation Analysis]
31 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]
32 Pagola-Lorz I, Vicente E, Ibáñez B, Torné L, Elizalde-Beiras I, Garcia-Solaesa V, García F, Delfrade J, Jericó I. Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region. Orphanet J Rare Dis 2019;14:276. [PMID: 31791368 DOI: 10.1186/s13023-019-1227-x] [Cited by in Crossref: 9] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
33 Murphy AP, Morrow J, Dahlqvist JR, Stojkovic T, Willis TA, Sinclair CDJ, Wastling S, Yousry T, Hanna MS, James MK, Mayhew A, Eagle M, Lee LE, Hogrel JY, Carlier PG, Thornton JS, Vissing J, Hollingsworth KG, Straub V. Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints. Ann Clin Transl Neurol 2019;6:1033-45. [PMID: 31211167 DOI: 10.1002/acn3.774] [Cited by in Crossref: 7] [Cited by in F6Publishing: 10] [Article Influence: 2.3] [Reference Citation Analysis]
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35 Noguchi S, Ogawa M, Kawahara G, Malicdan MC, Nishino I. Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. Mol Ther Nucleic Acids 2014;3:e171. [PMID: 24959844 DOI: 10.1038/mtna.2014.22] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.4] [Reference Citation Analysis]
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38 Wu L, Xiang B, Zhang H, He X, Shih C, Chen X, Cai T. Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy. Neuromuscul Disord 2017;27:1018-22. [PMID: 28818390 DOI: 10.1016/j.nmd.2017.06.558] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
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41 Suresh E, Wimalaratna S. Proximal myopathy: diagnostic approach and initial management. Postgrad Med J 2013;89:470-7. [PMID: 23596213 DOI: 10.1136/postgradmedj-2013-131752] [Cited by in Crossref: 15] [Cited by in F6Publishing: 7] [Article Influence: 1.7] [Reference Citation Analysis]
42 Yonekawa T, Komaki H, Okada M, Hayashi YK, Nonaka I, Sugai K, Sasaki M, Nishino I. Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. Journal of Neurology, Neurosurgery & Psychiatry 2013;84:982-8. [DOI: 10.1136/jnnp-2012-304710] [Cited by in Crossref: 21] [Cited by in F6Publishing: 16] [Article Influence: 2.3] [Reference Citation Analysis]
43 Seo K, Kim EK, Choi J, Kim DS, Shin JH. Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation. Mol Ther Methods Clin Dev 2021;21:702-9. [PMID: 34141825 DOI: 10.1016/j.omtm.2021.04.015] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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45 Vieitez I, Gallano P, González-quereda L, Borrego S, Marcos I, Millán J, Jairo T, Prior C, Molano J, Trujillo-tiebas M, Gallego-merlo J, García-barcina M, Fenollar M, Navarro C. Mutational spectrum of Duchenne muscular dystrophy in Spain: study of 284 cases. Neurología (English Edition) 2017;32:377-85. [DOI: 10.1016/j.nrleng.2015.12.004] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.4] [Reference Citation Analysis]
46 Borisovna KO, Yurievna KA, Yurievich TK, Igorevna KO, Olegovich KD, Igorevna DA, Timofeevna BT, Vyacheslavovna ZN, Ivanovna SE, Alekseevich SP, Vladimirovich IV. Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. BMC Pediatr 2019;19:98. [PMID: 30961548 DOI: 10.1186/s12887-019-1470-2] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
47 Alavi A, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G, Ashrafi MR, Kahrizi K, Najmabadi H, Jazayeri F. LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. Journal of Neurogenetics 2017;31:161-9. [DOI: 10.1080/01677063.2017.1346093] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 1.4] [Reference Citation Analysis]
48 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]
49 Landfeldt E, Lindberg C, Sejersen T. Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy. Muscle Nerve 2020;61:363-8. [DOI: 10.1002/mus.26787] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
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52 Fanin M, Angelini C. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls. Muscle Nerve 2015;52:163-73. [PMID: 25900067 DOI: 10.1002/mus.24682] [Cited by in Crossref: 33] [Cited by in F6Publishing: 31] [Article Influence: 4.7] [Reference Citation Analysis]
53 Mohamadian M, Rastegar M, Pasamanesh N, Ghadiri A, Ghandil P, Naseri M. Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview. J Mol Neurosci 2021. [PMID: 34727324 DOI: 10.1007/s12031-021-01933-4] [Reference Citation Analysis]
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55 Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology 2017;88:1226-34. [PMID: 28251916 DOI: 10.1212/WNL.0000000000003772] [Cited by in Crossref: 48] [Cited by in F6Publishing: 21] [Article Influence: 9.6] [Reference Citation Analysis]
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