{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T16:24:06Z","timestamp":1785860646184,"version":"3.56.0"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T00:00:00Z","timestamp":1590019200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T00:00:00Z","timestamp":1590019200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100004484","name":"Tehran University of Medical Sciences and Health Services","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1007\/s12031-020-01594-9","type":"journal-article","created":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T00:02:28Z","timestamp":1590019348000},"page":"1565-1573","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations"],"prefix":"10.1007","volume":"70","author":[{"given":"Gholamreza","family":"Zamani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Hosseini Bereshneh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Azizi Malamiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayna","family":"Bagheri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamyar","family":"Moradi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Reza","family":"Ashrafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Reza","family":"Tavasoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Mohammadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza Shervin","family":"Badv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masood","family":"Ghahvechi Akbari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7487-569X","authenticated-orcid":false,"given":"Morteza","family":"Heidari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,5,21]]},"reference":[{"issue":"3","key":"1594_CR1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmedgenet-2015-103387","volume":"53","author":"A Aartsma-Rus","year":"2016","unstructured":"Aartsma-Rus A, Ginjaar IB, Bushby K (2016) The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet 53(3):145\u2013151","journal-title":"J Med Genet"},{"issue":"5","key":"1594_CR2","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/j.jmoldx.2016.05.003","volume":"18","author":"M Alame","year":"2016","unstructured":"Alame M, Lacourt D, Zenagui R, Mechin D, Danton F, Koenig M, Claustres M, Coss\u00e9e M (2016) Implementation of a reliable next-generation sequencing strategy for molecular diagnosis of dystrophinopathies. J Mol Diagn 18(5):731\u2013740","journal-title":"J Mol Diagn"},{"key":"1594_CR3","unstructured":"King N, Horrocks C, Brooks J (2018) Interviews in qualitative research. SAGE Publications Limited, London"},{"issue":"1","key":"1594_CR4","first-page":"42","volume":"9","author":"M Barzegar","year":"2015","unstructured":"Barzegar M, Habibi P, Bonyady M, Topchizadeh V, Shiva S (2015) Exon deletion pattern in duchene muscular dystrophy in north west of Iran. Iran J Child Neurol 9(1):42\u201348","journal-title":"Iran J Child Neurol"},{"issue":"1","key":"1594_CR5","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/BF00205170","volume":"86","author":"AH Beggs","year":"1990","unstructured":"Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% of DMD\/BMD gene deletions by polymerase chain reaction. Hum Genet 86(1):45\u201348","journal-title":"Hum Genet"},{"issue":"6","key":"1594_CR6","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1136\/archdischild-2013-304340","volume":"98","author":"S Behjati","year":"2013","unstructured":"Behjati S, Tarpey PS (2013) What is next generation sequencing? Arch Dis Child Educa Pract Ed 98(6):236\u2013238","journal-title":"Arch Dis Child Educa Pract Ed"},{"issue":"11","key":"1594_CR7","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1002\/humu.22390","volume":"34","author":"CL Bladen","year":"2013","unstructured":"Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Bari\u0161i\u0107 N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topalo\u011flu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, B\u00e9roud C, Lochm\u00fcller H (2013) The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat 34(11):1449\u20131457","journal-title":"Hum Mutat"},{"issue":"4","key":"1594_CR8","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.22758","volume":"36","author":"CL Bladen","year":"2015","unstructured":"Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Bari\u0161i\u0107 N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, D\u00edaz-Manera J, Gallardo E, Karaduman AA, Topalo\u011flu H, el Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, B\u00e9roud C, Lochm\u00fcller H (2015) The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat 36(4):395\u2013402","journal-title":"Hum Mutat"},{"issue":"9","key":"1594_CR9","doi-asserted-by":"crossref","first-page":"e108038","DOI":"10.1371\/journal.pone.0108038","volume":"9","author":"C Chen","year":"2014","unstructured":"Chen C, Ma H, Zhang F, Chen L, Xing X, Wang S, Zhang X, Luo Y (2014) Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. PLoS One 9(9):e108038","journal-title":"PLoS One"},{"issue":"5","key":"1594_CR10","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1002\/mus.25396","volume":"55","author":"A Cho","year":"2017","unstructured":"Cho A, Seong MW, Lim BC, Lee HJ, Byeon JH, Kim SS, Kim SY, Choi SA, Wong AL, Lee J, Kim JS, Ryu HW, Lee JS, Kim H, Hwang H, Choi JE, Kim KJ, Hwang YS, Hong KH, Park S, Cho SI, Lee SJ, Park H, Seo SH, Park SS, Chae JH (2017) Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne\/Becker muscular dystrophy in a single center. Muscle Nerve 55(5):727\u2013734","journal-title":"Muscle Nerve"},{"issue":"4","key":"1594_CR11","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1007\/s12031-018-1204-1","volume":"66","author":"E Dardiotis","year":"2018","unstructured":"Dardiotis E, Aloizou A-M, Siokas V, Patrinos GP, Deretzi G, Mitsias P, Aschner M, Tsatsakis A (2018) The role of microRNAs in patients with amyotrophic lateral sclerosis. J Mol Neurosci 66(4):617\u2013628","journal-title":"J Mol Neurosci"},{"issue":"2","key":"1594_CR12","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S1016-8478(23)24500-8","volume":"18","author":"NA Elhawary","year":"2004","unstructured":"Elhawary NA, Shawky RM, Hashem N (2004) Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families. Mol Cells 18(2):141\u2013149","journal-title":"Mol Cells"},{"issue":"4","key":"1594_CR13","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1089\/gtmb.2010.0036","volume":"14","author":"SE Flanagan","year":"2010","unstructured":"Flanagan SE, Patch A-M, Ellard S (2010) Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomark 14(4):533\u2013537","journal-title":"Genet Test Mol Biomark"},{"issue":"12","key":"1594_CR14","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1002\/humu.21114","volume":"30","author":"KM Flanigan","year":"2009","unstructured":"Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ, the United Dystrophinopathy Project Consortium, Weiss RB (2009) Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 30(12):1657\u20131666","journal-title":"Hum Mutat"},{"issue":"7","key":"1594_CR15","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1089\/hum.2012.099","volume":"23","author":"H Foster","year":"2012","unstructured":"Foster H, Popplewell L, Dickson G (2012) Genetic therapeutic approaches for Duchenne muscular dystrophy. Hum Gene Ther 23(7):676\u2013687","journal-title":"Hum Gene Ther"},{"issue":"3","key":"1594_CR16","first-page":"1223","volume":"5","author":"QQ Gao","year":"2011","unstructured":"Gao QQ, McNally EM (2011) The dystrophin complex: structure, function, and implications for therapy. Compr Physiol 5(3):1223\u20131239","journal-title":"Compr Physiol"},{"issue":"1","key":"1594_CR17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2006.06.025","volume":"252","author":"KD Hallwirth Pillay","year":"2007","unstructured":"Hallwirth Pillay KD, Bill PL, Madurai S, Mubaiwa L, Rapiti P (2007) Molecular deletion patterns in Duchenne and Becker muscular dystrophy patients from KwaZulu Natal. J Neurol Sci 252(1):1\u20133","journal-title":"J Neurol Sci"},{"issue":"4","key":"1594_CR18","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s12031-013-0106-5","volume":"52","author":"K Hamzi","year":"2014","unstructured":"Hamzi K, Itto AB, Itri M, Nadifi S (2014) Prenatal diagnosis of BMD in Morocco: evolution and limits. J Mol Neurosci 52(4):459\u2013460","journal-title":"J Mol Neurosci"},{"issue":"2","key":"1594_CR19","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1007\/s12031-013-9971-1","volume":"50","author":"AB Itto","year":"2013","unstructured":"Itto AB, Hamzi K, Bellayou H, Itri M, Slassi I, Nadifi S (2013) Evolution of molecular diagnosis of Duchenne muscular dystrophy. J Mol Neurosci 50(2):314\u2013316","journal-title":"J Mol Neurosci"},{"key":"1594_CR20","doi-asserted-by":"crossref","first-page":"019","DOI":"10.29328\/journal.jgmgt.1001003","volume":"1","author":"J-P Iyombe-Engembe","year":"2017","unstructured":"Iyombe-Engembe J-P, Tremblay JP (2017) The advances and challenges of gene therapy for Duchenne muscular dystrophy. J Genetic Med Gene Therapy 1:019\u2013036","journal-title":"J Genetic Med Gene Therapy"},{"issue":"1","key":"1594_CR21","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s10048-004-0204-1","volume":"6","author":"B Janssen","year":"2005","unstructured":"Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J (2005) MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics. 6(1):29\u201335","journal-title":"Neurogenetics."},{"issue":"8","key":"1594_CR22","doi-asserted-by":"crossref","first-page":"e0135189","DOI":"10.1371\/journal.pone.0135189","volume":"10","author":"J Juan-Mateu","year":"2015","unstructured":"Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento A, Ortez C, Baiget M, Gallano P (2015) DMD mutations in 576 dystrophinopathy families: a step forward in genotype-phenotype correlations. PLoS One 10(8):e0135189","journal-title":"PLoS One"},{"issue":"12","key":"1594_CR23","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1089\/gtmb.2011.0057","volume":"15","author":"F Khordadpoor-Deilamani","year":"2011","unstructured":"Khordadpoor-Deilamani F, Akbari MT, Nafissi S, Zamani G (2011) Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods. Genet Test Mol Biomark 15(12):893\u2013899","journal-title":"Genet Test Mol Biomark"},{"issue":"1","key":"1594_CR24","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1177\/0300060515613223","volume":"44","author":"Y Li","year":"2016","unstructured":"Li Y, Liu Z, OuYang S, Zhu Y, Wang L, Wu J (2016) Distribution of dystrophin gene deletions in a Chinese population. J Int Med Res 44(1):99\u2013108","journal-title":"J Int Med Res"},{"issue":"2","key":"1594_CR25","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.pedneo.2017.02.004","volume":"59","author":"WC Liang","year":"2018","unstructured":"Liang WC, Wang CH, Chou PC, Chen WZ, Jong YJ (2018) The natural history of the patients with Duchenne muscular dystrophy in Taiwan: a medical center experience. Pediatr Neonatol 59(2):176\u2013183","journal-title":"Pediatr Neonatol"},{"issue":"2","key":"1594_CR26","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.ymthe.2017.10.013","volume":"26","author":"J Lorant","year":"2018","unstructured":"Lorant J, Saury C, Schleder C, Robriquet F, Lieubeau B, N\u00e9groni E, Leroux I, Chabrand L, Viau S, Babarit C, Ledevin M, Dubreil L, Hamel A, Magot A, Thorin C, Guevel L, Delorme B, P\u00e9r\u00e9on Y, Butler-Browne G, Mouly V, Rouger K (2018) Skeletal muscle regenerative potential of human MuStem cells following transplantation into injured mice muscle. Mol Ther 26(2):618\u2013633","journal-title":"Mol Ther"},{"issue":"1","key":"1594_CR27","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1186\/s13023-018-0853-z","volume":"13","author":"P Ma","year":"2018","unstructured":"Ma P, Zhang S, Zhang H, Fang S, Dong Y, Zhang Y, Hao W, Wu S, Zhao Y (2018) Comprehensive genetic characteristics of dystrophinopathies in China. Orphanet J Rare Dis 13(1):109","journal-title":"Orphanet J Rare Dis"},{"issue":"10\u201311","key":"1594_CR28","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1016\/j.clinbiochem.2010.03.014","volume":"43","author":"A Madania","year":"2010","unstructured":"Madania A, Zarzour H, Jarjour RA, Ghoury I (2010) Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD\/BMD patients. Clin Biochem 43(10\u201311):836\u2013842","journal-title":"Clin Biochem"},{"issue":"1","key":"1594_CR29","doi-asserted-by":"crossref","first-page":"58","DOI":"10.4103\/0028-3886.152635","volume":"63","author":"M Manjunath","year":"2015","unstructured":"Manjunath M, Kiran P, Preethish-Kumar V, Nalini A, Singh RJ, Gayathri N (2015) A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study. Neurol India 63(1):58\u201362","journal-title":"Neurol India"},{"issue":"5","key":"1594_CR30","doi-asserted-by":"crossref","first-page":"e0197205","DOI":"10.1371\/journal.pone.0197205","volume":"13","author":"F Mohammed","year":"2018","unstructured":"Mohammed F, Elshafey A, Al-Balool H, Alaboud H, Al Ben Ali M, Baqer A et al (2018) Mutation spectrum analysis of Duchenne\/Becker muscular dystrophy in 68 families in Kuwait: the era of personalized medicine. PLoS One 13(5):e0197205","journal-title":"PLoS One"},{"issue":"12","key":"1594_CR31","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","volume":"2","author":"F Muntoni","year":"2003","unstructured":"Muntoni F, Torelli S, Ferlini A (2003) Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2(12):731\u2013740","journal-title":"Lancet Neurol"},{"key":"1594_CR32","doi-asserted-by":"crossref","first-page":"72","DOI":"10.4103\/2277-9175.125872","volume":"3","author":"N Nouri","year":"2014","unstructured":"Nouri N, Fazel-Najafabadi E, Salehi M, Hosseinzadeh M, Behnam M, Ghazavi MR et al (2014) Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset. Adv Biomed Res 3:72","journal-title":"Adv Biomed Res"},{"issue":"9","key":"1594_CR33","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1038\/sj.embor.7400221","volume":"5","author":"KJ Nowak","year":"2004","unstructured":"Nowak KJ, Davies KE (2004) Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Rep 5(9):872\u2013876","journal-title":"EMBO Rep"},{"issue":"6","key":"1594_CR34","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/jhg.2016.7","volume":"61","author":"M Okubo","year":"2016","unstructured":"Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I (2016) Genetic diagnosis of Duchenne\/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. J Hum Genet 61(6):483\u2013489","journal-title":"J Hum Genet"},{"issue":"1","key":"1594_CR35","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1186\/s13023-017-0703-4","volume":"12","author":"M Okubo","year":"2017","unstructured":"Okubo M, Goto K, Komaki H, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi S, Kimura E, Nishino I (2017) Comprehensive analysis for genetic diagnosis of dystrophinopathies in Japan. Orphanet J Rare Dis 12(1):149","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"1594_CR36","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.1002\/1873-3468.13099","volume":"592","author":"KJ Perkins","year":"2018","unstructured":"Perkins KJ, Davies KE (2018) Alternative utrophin mRNAs contribute to phenotypic differences between dystrophin-deficient mice and Duchenne muscular dystrophy. FEBS Lett 592(11):1856\u20131869","journal-title":"FEBS Lett"},{"issue":"2","key":"1594_CR37","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/BF00202854","volume":"94","author":"F Rininsland","year":"1994","unstructured":"Rininsland F, Reiss J (1994) Microlesions and polymorphisms in the Duchenne\/Becker muscular dystrophy gene. Hum Genet 94(2):111\u2013116","journal-title":"Hum Genet"},{"issue":"1","key":"1594_CR38","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/s13023-017-0631-3","volume":"12","author":"S Ryder","year":"2017","unstructured":"Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, Jain M, Kleijnen J (2017) The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis 12(1):79","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"1594_CR39","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1155\/S1110724302205069","volume":"2","author":"A Sbiti","year":"2002","unstructured":"Sbiti A, El Kerch F, Sefiani A (2002) Analysis of dystrophin gene deletions by multiplex PCR in Moroccan patients. J Biomed Biotechnol 2(3):158\u2013160","journal-title":"J Biomed Biotechnol"},{"issue":"4","key":"1594_CR40","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1089\/gte.2004.8.361","volume":"8","author":"M Schwartz","year":"2004","unstructured":"Schwartz M, Duno M (2004) Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test 8(4):361\u2013367","journal-title":"Genet Test"},{"key":"1594_CR41","doi-asserted-by":"crossref","unstructured":"Siokas V, Aslanidou P, Aloizou A-M, Peristeri E, Stamati P, Liampas I, et al (2020) Does the CD33 rs3865444 polymorphism confer susceptibility to Alzheimer\u2019s disease? J Mol Neurosci 1\u201310","DOI":"10.1007\/s12031-020-01507-w"},{"issue":"3","key":"1594_CR42","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1007\/s12031-018-1046-x","volume":"64","author":"M Sokratous","year":"2018","unstructured":"Sokratous M, Dardiotis E, Bellou E, Tsouris Z, Michalopoulou A, Dardioti M, Siokas V, Rikos D, Tsatsakis A, Kovatsi L, Bogdanos DP, Hadjigeorgiou GM (2018) CpG island methylation patterns in relapsing-remitting multiple sclerosis. J Mol Neurosci 64(3):478\u2013484","journal-title":"J Mol Neurosci"},{"issue":"3","key":"1594_CR43","doi-asserted-by":"crossref","first-page":"613","DOI":"10.3349\/ymj.2017.58.3.613","volume":"58","author":"MR Suh","year":"2017","unstructured":"Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW (2017) Multiplex ligation-dependent probe amplification in X-linked recessive muscular dystrophy in Korean subjects. Yonsei Med J 58(3):613\u2013618","journal-title":"Yonsei Med J"},{"issue":"2","key":"1594_CR44","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/ng0295-184","volume":"9","author":"CN Tennyson","year":"1995","unstructured":"Tennyson CN, Klamut HJ, Worton RG (1995) The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet 9(2):184\u2013190","journal-title":"Nat Genet"},{"issue":"1","key":"1594_CR45","doi-asserted-by":"crossref","first-page":"65","DOI":"10.2353\/jmoldx.2010.090074","volume":"12","author":"A Torella","year":"2010","unstructured":"Torella A, Trimarco A, Blanco Fdel V, Cuomo A, Aurino S, Piluso G et al (2010) One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. J Mol Diagn 12(1):65\u201373","journal-title":"J Mol Diagn"},{"issue":"6","key":"1594_CR46","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1002\/humu.20976","volume":"30","author":"S Tuffery-Giraud","year":"2009","unstructured":"Tuffery-Giraud S, Beroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L et al (2009) Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat 30(6):934\u2013945","journal-title":"Hum Mutat"},{"issue":"4","key":"1594_CR47","first-page":"333","volume":"46","author":"A Ulgenalp","year":"2004","unstructured":"Ulgenalp A, Giray O, Bora E, Hizli T, Kurul S, Sagin-Saylam G et al (2004) Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy. Turk J Pediatr 46(4):333\u2013338","journal-title":"Turk J Pediatr"},{"issue":"3","key":"1594_CR48","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s12031-007-9023-9","volume":"34","author":"M Vainzof","year":"2008","unstructured":"Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D et al (2008) Animal models for genetic neuromuscular diseases. J Mol Neurosci 34(3):241\u2013248","journal-title":"J Mol Neurosci"},{"key":"1594_CR49","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1744-9081-4-20","volume":"4","author":"X Wang","year":"2008","unstructured":"Wang X, Wang Z, Yan M, Huang S, Chen TJ, Zhong N (2008) Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations. Behav Brain Funct 4:20","journal-title":"Behav Brain Funct"},{"issue":"12","key":"1594_CR50","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1136\/jmg.33.12.1027","volume":"33","author":"H Yamagishi","year":"1996","unstructured":"Yamagishi H, Kato S, Hiraishi Y, Ishihara T, Hata J, Matsuo N, Takano T (1996) Identification of carriers of Duchenne\/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene. J Med Genet 33(12):1027\u20131031","journal-title":"J Med Genet"},{"issue":"7","key":"1594_CR51","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.nmd.2016.05.004","volume":"26","author":"G Zamani","year":"2016","unstructured":"Zamani G, Heidari M, Azizi Malamiri R, Ashrafi MR, Mohammadi M, Shervin Badv R, Hosseini SA, Salehi S, Shahrokhi A, Qorbani M, Fathi MR (2016) The quality of life in boys with Duchenne muscular dystrophy. Neuromuscul Disord 26(7):423\u2013427","journal-title":"Neuromuscul Disord"},{"key":"1594_CR52","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1016\/j.toxrep.2015.05.008","volume":"2","author":"A Zhang","year":"2015","unstructured":"Zhang A, Uaesoontrachoon K, Shaughnessy C, Das JR, Rayavarapu S, Brown KJ, Ray PE, Nagaraju K, van den Anker JN, Hoffman EP, Hathout Y (2015) The use of urinary and kidney SILAM proteomics to monitor kidney response to high dose morpholino oligonucleotides in the mdx mouse. Toxicol Rep 2:838\u2013849","journal-title":"Toxicol Rep"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01594-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12031-020-01594-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01594-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T03:16:46Z","timestamp":1722914206000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12031-020-01594-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,21]]},"references-count":52,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["1594"],"URL":"https:\/\/doi.org\/10.1007\/s12031-020-01594-9","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,21]]},"assertion":[{"value":"6 March 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}