{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:37:35Z","timestamp":1790613455348,"version":"4.1.0"},"reference-count":79,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2021,1,22]],"date-time":"2021-01-22T00:00:00Z","timestamp":1611273600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,1,22]],"date-time":"2021-01-22T00:00:00Z","timestamp":1611273600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1007\/s12031-020-01789-0","type":"journal-article","created":{"date-parts":[[2021,1,22]],"date-time":"2021-01-22T11:07:55Z","timestamp":1611313675000},"page":"2281-2298","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran"],"prefix":"10.1007","volume":"71","author":[{"given":"Zohreh","family":"Sharifi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8381-0591","authenticated-orcid":false,"given":"Mohammad","family":"Taheri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad-Sadegh","family":"Fallah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Abiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Golnabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamideh","family":"Bagherian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Razieh","family":"Zeinali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Farahzadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan","family":"Alborji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pardis Ghazizadeh","family":"Tehrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoume","family":"Amini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadaf","family":"Asnavandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrdad","family":"Hashemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora","family":"Forouzesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirous","family":"Zeinali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,1,22]]},"reference":[{"key":"1789_CR1","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1097\/MPH.0b013e3180437e02","volume":"29","author":"H Abolghasemi","year":"2007","unstructured":"Abolghasemi H, Amid A, Zeinali S, Radfar MH, Eshghi P, Rahiminejad MS, Ehsani MA, Najmabadi H, Akbari MT, Afrasiabi A (2007) Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol 29:233\u2013238","journal-title":"J Pediatr Hematol Oncol"},{"key":"1789_CR2","doi-asserted-by":"crossref","unstructured":"Abraham M, van der Spoel D, Lindahl E, Hess B (2015) the GROMACS development team GROMACS User Manual version 5.1. 2; 2016. SoftwareX 1:19","DOI":"10.1016\/j.softx.2015.06.001"},{"key":"1789_CR3","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248","journal-title":"Nat Methods"},{"key":"1789_CR4","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3988\/jcn.2017.13.1.27","volume":"13","author":"E-J Ahn","year":"2017","unstructured":"Ahn E-J, Yum M-S, Kim E-H, Yoo H-W, Lee BH, Kim G-H, Ko T-S (2017) Genotype-phenotype correlation of SMN1 and NAIP deletions in Korean patients with spinal muscular atrophy. J Clin Neurol 13:27\u201331","journal-title":"J Clin Neurol"},{"key":"1789_CR5","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s00439-008-0598-1","volume":"125","author":"L Al\u00edas","year":"2009","unstructured":"Al\u00edas L, Bernal S, Fuentes-Prior P, Barcel\u00f3 MJ, Also E, Mart\u00ednez-Hern\u00e1ndez R, Rodr\u00edguez-Alvarez FJ, Mart\u00edn Y, Aller E, Grau E (2009) Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet 125:29\u201339","journal-title":"Hum Genet"},{"key":"1789_CR6","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.1002\/ajmg.a.37684","volume":"170","author":"Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE, Consortium FC","year":"2016","unstructured":"Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE, Consortium FC (2016) Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. Am J Med Gen Part A 170:1820\u20131825","journal-title":"Am J Med Gen Part A"},{"key":"1789_CR7","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/B978-0-444-64076-5.00038-7","volume":"148","author":"ES Arnold","year":"2018","unstructured":"Arnold ES, Fischbeck KH (2018) Spinal muscular atrophy. Handb Clin Neurol 148:591\u2013601","journal-title":"Handb Clin Neurol"},{"key":"1789_CR8","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","volume":"51","author":"WD Arnold","year":"2015","unstructured":"Arnold WD, Kassar D, Kissel JT (2015) Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve 51:157\u2013167","journal-title":"Muscle Nerve"},{"key":"1789_CR9","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1212\/WNL.0b013e3181f4d86c","volume":"75","author":"J Baets","year":"2010","unstructured":"Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P (2010) Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurol 75:1181\u20131188","journal-title":"Neurol"},{"key":"1789_CR10","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1097\/GIM.0b013e3182017c05","volume":"13","author":"S Ben-Shachar","year":"2011","unstructured":"Ben-Shachar S, Orr-Urtreger A, Bardugo E, Shomrat R, Yaron Y (2011) Large-scale population screening for spinal muscular atrophy: clinical implications. Genet Med 13:110","journal-title":"Genet Med"},{"key":"1789_CR11","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1002\/ajmg.a.38031","volume":"173","author":"FK Boardman","year":"2017","unstructured":"Boardman FK, Young PJ, Griffiths FE (2017) Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families. Am J Med Genet Part A 173:421\u2013434","journal-title":"Am J Med Genet Part A"},{"key":"1789_CR12","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.nmd.2013.12.011","volume":"24","author":"CG B\u00f6nnemann","year":"2014","unstructured":"B\u00f6nnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, B\u00e9roud C, Mathews KD (2014) Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 24:289\u2013311","journal-title":"Neuromuscul Disord"},{"key":"1789_CR13","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","volume":"28","author":"M Calucho","year":"2018","unstructured":"Calucho M, Bernal S, Al\u00edas L, March F, Vencesl\u00e1 A, Rodr\u00edguez-\u00c1lvarez FJ, Aller E, Fern\u00e1ndez RM, Borrego S, Mill\u00e1n JM (2018) Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord 28:208\u2013215","journal-title":"Neuromuscul Disord"},{"key":"1789_CR14","doi-asserted-by":"crossref","first-page":"2921","DOI":"10.4103\/0366-6999.247198","volume":"131","author":"Y-Y Cao","year":"2018","unstructured":"Cao Y-Y, Zhang W-H, Qu Y-J, Bai J-L, Jin Y-W, Wang H, Song F (2018) Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1\/2 Using Sanger DNA Sequencing. Chin Med J 131:2921","journal-title":"Chin Med J"},{"key":"1789_CR15","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1093\/hmg\/ddt494","volume":"23","author":"C Chauveau","year":"2013","unstructured":"Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A (2013) Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet 23:980\u2013991","journal-title":"Hum Mol Genet"},{"key":"1789_CR16","doi-asserted-by":"crossref","first-page":"5695","DOI":"10.1073\/pnas.91.12.5695","volume":"91","author":"S Cheng","year":"1994","unstructured":"Cheng S, Fockler C, Barnes WM, Higuchi R (1994) Effective amplification of long targets from cloned inserts and human genomic DNA. Proc Natl Acad Sci 91:5695\u20135699","journal-title":"Proc Natl Acad Sci"},{"key":"1789_CR17","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","volume":"31","author":"Y Choi","year":"2015","unstructured":"Choi Y, Chan AP (2015) PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinform 31:2745\u20132747","journal-title":"Bioinform"},{"key":"1789_CR18","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1002\/1531-8249(200012)48:6877::Aid-Ana83.0.Co;2-#","volume":"48","author":"K Christodoulou","year":"2000","unstructured":"Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L (2000) A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. Ann Neurol 48:877\u2013884. https:\/\/doi.org\/10.1002\/1531-8249(200012)48:6877::Aid-Ana83.0.Co;2-#","journal-title":"Ann Neurol"},{"key":"1789_CR19","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/1750-1172-6-71","volume":"6","author":"A D'Amico","year":"2011","unstructured":"D\u2019Amico A, Mercuri E, Tiziano FD, Bertini E (2011) Spinal muscular atrophy. Orphanet J Rare Dis 6:71","journal-title":"Orphanet J Rare Dis"},{"key":"1789_CR20","doi-asserted-by":"crossref","first-page":"255","DOI":"10.4103\/0028-3886.27147","volume":"54","author":"RS Dastur","year":"2006","unstructured":"Dastur RS, Gaitonde PS, Khadilkar SV, Udani VP, Nadkarni JJ (2006) Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients. Neurol India 54:255","journal-title":"Neurol India"},{"key":"1789_CR21","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1002\/ana.24535","volume":"78","author":"S Donkervoort","year":"2015","unstructured":"Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J (2015) TPM 3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Ann Neurol 78:982\u2013994","journal-title":"Ann Neurol"},{"key":"1789_CR22","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1002\/ajmg.a.38418","volume":"176","author":"JJ Dowling","year":"2018","unstructured":"Dowling JJ, D. Gonorazky H, Cohn RD, Campbell C (2018) Treating pediatric neuromuscular disorders: The future is now. Am J Med Genet Part A 176:804\u2013841","journal-title":"Am J Med Genet Part A"},{"key":"1789_CR23","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/s12891-015-0457-x","volume":"16","author":"P Fang","year":"2015","unstructured":"Fang P, Li L, Zeng J, Zhou W-J, Wu W-Q, Zhong Z-Y, Yan T-Z, Xie J-S, Huang J, Lin L (2015) Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls. BMC Musculoskelet Disord 16:11","journal-title":"BMC Musculoskelet Disord"},{"key":"1789_CR24","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/nrneurol.2015.77","volume":"11","author":"I Faravelli","year":"2015","unstructured":"Faravelli I, Nizzardo M, Comi GP, Corti S (2015) Spinal muscular atrophy\u2014recent therapeutic advances for an old challenge. Nat Rev Neurol 11:351","journal-title":"Nat Rev Neurol"},{"key":"1789_CR25","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s13311-014-0314-x","volume":"12","author":"MA Farrar","year":"2015","unstructured":"Farrar MA, Kiernan MC (2015) The genetics of spinal muscular atrophy: progress and challenges. Neurother 12:290\u2013302","journal-title":"Neurother"},{"key":"1789_CR26","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","volume":"28","author":"RS Finkel","year":"2018","unstructured":"Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S (2018) Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 28:197\u2013207","journal-title":"Neuromuscul Disord"},{"key":"1789_CR27","doi-asserted-by":"publisher","first-page":"1726","DOI":"10.1212\/Wnl.0000000000000966","volume":"83","author":"B Gess","year":"2014","unstructured":"Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schoneborn S, Rohr D, Halfter H, Young P, Senderek J (2014) HSJ1-related hereditary neuropathies Novel mutations and extended clinical spectrum. Neurol 83:1726\u20131732. https:\/\/doi.org\/10.1212\/Wnl.0000000000000966","journal-title":"Neurol"},{"key":"1789_CR28","unstructured":"Gregory A, Kurian MA, Maher ER, Hogarth P, Hayflick SJ (2017) PLA2G6-associated neurodegeneration"},{"key":"1789_CR29","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmg.2008.061929","volume":"46","author":"A Gregory","year":"2009","unstructured":"Gregory A, Polster BJ, Hayflick SJ (2009) Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 46:73\u201380","journal-title":"J Med Genet"},{"key":"1789_CR30","unstructured":"He S, Ge X, Qu Y, Jin Y, Wang H, Bai J, Song F (2011) Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy. Chin J Med Genet 28:606\u2013611"},{"key":"1789_CR31","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2009.066969","volume":"46","author":"BC Hendrickson","year":"2009","unstructured":"Hendrickson BC, Donohoe C, Akmaev VR, Sugarman EA, Labrousse P, Boguslavskiy L, Flynn K, Rohlfs EM, Walker A, Allitto B (2009) Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet 46:641\u2013644","journal-title":"J Med Genet"},{"key":"1789_CR32","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/71709","volume":"24","author":"HM Hsieh-Li","year":"2000","unstructured":"Hsieh-Li HM, Chang J-G, Jong Y-J, Wu M-H, Wang NM, Tsai CH, Li H (2000) A mouse model for spinal muscular atrophy. Nat Genet 24:66","journal-title":"Nat Genet"},{"key":"1789_CR33","doi-asserted-by":"crossref","first-page":"2343","DOI":"10.1093\/brain\/awy167","volume":"141","author":"E Janzen","year":"2018","unstructured":"Janzen E, Mendoza-Ferreira N, Hosseinibarkooie S, Schneider S, Hupperich K, Tschanz T, Grysko V, Riessland M, Hammerschmidt M, Rigo F (2018) CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. Brain 141:2343\u20132361","journal-title":"Brain"},{"key":"1789_CR34","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/gim.2013.176","volume":"16","author":"X Jian","year":"2014","unstructured":"Jian X, Boerwinkle E, Liu X (2014) In silico tools for splicing defect prediction: a survey from the viewpoint of end users. Genet Med 16:497","journal-title":"Genet Med"},{"key":"1789_CR35","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1086\/303089","volume":"67","author":"JJ Johnston","year":"2000","unstructured":"Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Sch\u00e4ffer AA, Francomano CA, Biesecker LG (2000) A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 67:814\u2013821","journal-title":"Am J Hum Genet"},{"key":"1789_CR36","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P, O\u2019roak BJ, Cooper GM, Shendure J, (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310","journal-title":"Nat Genet"},{"key":"1789_CR37","doi-asserted-by":"crossref","unstructured":"Knapkova M, Hall K, Loeber G (2018) Reliability of Neonatal Screening Results. Multidisciplinary Digital Publishing Institute","DOI":"10.3390\/ijns4030028"},{"key":"1789_CR38","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073","journal-title":"Nat Protoc"},{"key":"1789_CR39","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1007\/s11910-011-0240-9","volume":"12","author":"A Lewelt","year":"2012","unstructured":"Lewelt A, Newcomb TM, Swoboda KJ (2012) New therapeutic approaches to spinal muscular atrophy. Curr Neurol Neurosci Rep 12:42\u201353","journal-title":"Curr Neurol Neurosci Rep"},{"key":"1789_CR40","unstructured":"Li H (2013) Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv preprint. https:\/\/arxiv.org\/abs\/1303.3997"},{"key":"1789_CR41","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/bmb.2006.494034052641","volume":"34","author":"AO Lima","year":"2006","unstructured":"Lima AO, Garc\u00eas SP (2006) Intrageneric primer design: Bringing bioinformatics tools to the class. Biochem Mol Biol Educ 34:332\u2013337","journal-title":"Biochem Mol Biol Educ"},{"key":"1789_CR42","doi-asserted-by":"crossref","first-page":"339","DOI":"10.2174\/1389202919666180101154916","volume":"19","author":"MA Maretina","year":"2018","unstructured":"Maretina MA, Zheleznyakova GY, Lanko KM, Egorova AA, Baranov VS, Kiselev AV (2018) Molecular factors involved in spinal muscular atrophy pathways as possible disease-modifying candidates. Curr Genomics 19:339\u2013355","journal-title":"Curr Genomics"},{"key":"1789_CR43","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1146\/annurev.biophys.29.1.291","volume":"29","author":"MA Marti-Renom","year":"2000","unstructured":"Marti-Renom MA, Stuart AC, Fiser A, Sanchez R, Melo F, Sali A (2000) Comparative protein structure modeling of genes and genomes. Annu Rev Biophys Biomol Struct 29:291\u2013325. https:\/\/doi.org\/10.1146\/annurev.biophys.29.1.291","journal-title":"Annu Rev Biophys Biomol Struct"},{"key":"1789_CR44","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1086\/518900","volume":"81","author":"I Maystadt","year":"2007","unstructured":"Maystadt I, Rezs\u00f6hazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A (2007) The Nuclear Factor \u03baB\u2013Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset. Am J Hum Genet 81:67\u201376","journal-title":"Am J Hum Genet"},{"key":"1789_CR45","doi-asserted-by":"crossref","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res","DOI":"10.1101\/gr.107524.110"},{"key":"1789_CR46","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","volume":"28","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S (2018) Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 28:103\u2013115","journal-title":"Neuromuscul Disord"},{"key":"1789_CR47","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/sj.ejhg.5201288","volume":"12","author":"S Ogino","year":"2004","unstructured":"Ogino S, Wilson RB, Gold B (2004) New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet 12:1015","journal-title":"Eur J Hum Genet"},{"key":"1789_CR48","doi-asserted-by":"crossref","first-page":"3701","DOI":"10.1038\/s41598-019-39788-w","volume":"9","author":"K Ohuchi","year":"2019","unstructured":"Ohuchi K, Funato M, Yoshino Y, Ando S, Inagaki S, Sato A, Kawase C, Seki J, Saito T, Nishio H (2019) Notch signaling mediates astrocyte abnormality in spinal muscular atrophy model systems. Scientific Rep 9:3701","journal-title":"Scientific Rep"},{"key":"1789_CR49","unstructured":"Pagon R, Adam M, Ardinger H, Wallace S, Amemiya A, Bean L, Bird T, Ledbetter N, Mefford H, Smith R (n.d.) LAMA2-Related Muscular Dystrophy--GeneReviews"},{"key":"1789_CR50","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1086\/302160","volume":"63","author":"DW Parsons","year":"1998","unstructured":"Parsons DW, McAndrew P, Iannaccone S, Mendell J, Burghes A, Prior TW (1998) Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 63:1712\u20131723","journal-title":"Am J Hum Genet"},{"key":"1789_CR51","doi-asserted-by":"crossref","first-page":"2879","DOI":"10.1093\/brain\/awu169","volume":"137","author":"K Peeters","year":"2014","unstructured":"Peeters K, Chamova T, Jordanova A (2014) Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain 137:2879\u20132896","journal-title":"Brain"},{"key":"1789_CR52","doi-asserted-by":"crossref","unstructured":"Prior T (2017) Strategy for the Molecular Testing of Spinal Muscular Atrophy. Spinal Muscular Atrophy. Elsevier, pp 63\u201371","DOI":"10.1016\/B978-0-12-803685-3.00004-5"},{"key":"1789_CR53","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1097\/GIM.0b013e318188d069","volume":"10","author":"TW Prior","year":"2008","unstructured":"Prior TW (2008) Carrier screening for spinal muscular atrophy. Genet Med 10:840","journal-title":"Genet Med"},{"key":"1789_CR54","doi-asserted-by":"publisher","unstructured":"Prior TW, Nagan N (2016) Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches. Curr Protoc Hum Genet 88:9-27. https:\/\/doi.org\/10.1002\/0471142905.hg0927s88","DOI":"10.1002\/0471142905.hg0927s88"},{"key":"1789_CR55","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1097\/GIM.0b013e318220d523","volume":"13","author":"TW Prior","year":"2011","unstructured":"Prior TW, Nagan N, Sugarman EA, Batish SD, Braastad C (2011) Technical standards and guidelines for spinal muscular atrophy testing. Genet Med 13:686","journal-title":"Genet Med"},{"key":"1789_CR56","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30251","volume":"130","author":"TW Prior","year":"2004","unstructured":"Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ (2004) Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet Part A 130:307\u2013310","journal-title":"Am J Med Genet Part A"},{"key":"1789_CR57","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1016\/j.jmoldx.2016.05.004","volume":"18","author":"YJ Qu","year":"2016","unstructured":"Qu YJ, Bai JL, Cao YY, Wang H, Jin YW, Du J, Ge XS, Zhang WH, Li Y, He SX, Song F (2016) Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy. J Mol Diagn 18:741\u2013752. https:\/\/doi.org\/10.1016\/j.jmoldx.2016.05.004","journal-title":"J Mol Diagn"},{"key":"1789_CR58","doi-asserted-by":"crossref","first-page":"57","DOI":"10.4103\/0972-2327.107704","volume":"16","author":"I Rekik","year":"2013","unstructured":"Rekik I, Boukhris A, Ketata S, Amri M, Essid N, Feki I, Mhiri C (2013) Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy. Ann Indian Acad Neurol 16:57","journal-title":"Ann Indian Acad Neurol"},{"key":"1789_CR59","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405","journal-title":"Genet Med"},{"key":"1789_CR60","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1177\/0883073807305673","volume":"22","author":"BS Russman","year":"2007","unstructured":"Russman BS (2007) Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol 22:946\u2013951","journal-title":"J Child Neurol"},{"key":"1789_CR61","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1080\/03014460310001652211","volume":"31","author":"M Saadat","year":"2004","unstructured":"Saadat M, Ansari-Lari M, Farhud D (2004) Short report consanguineous marriage in Iran. Ann Hum Biol 31:263\u2013269","journal-title":"Ann Hum Biol"},{"key":"1789_CR62","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1136\/bmj.329.7475.1134","volume":"329","author":"A Samavat","year":"2004","unstructured":"Samavat A, Modell B (2004) Iranian national thalassaemia screening programme. BMJ 329:1134\u20131137","journal-title":"BMJ"},{"key":"1789_CR63","doi-asserted-by":"crossref","first-page":"563","DOI":"10.3390\/molecules22040563","volume":"22","author":"V Sardone","year":"2017","unstructured":"Sardone V, Zhou H, Muntoni F, Ferlini A, Falzarano M (2017) Antisense oligonucleotide-based therapy for neuromuscular disease. Mol 22:563","journal-title":"Mol"},{"key":"1789_CR64","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, R\u00f6delsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575","journal-title":"Nat Methods"},{"key":"1789_CR65","doi-asserted-by":"crossref","unstructured":"Sharifi Z, Forouzesh F, Taheri M, Zeinali S (2019a) Constraints of carrier screening in spinal muscular atrophy: Co-existence of deletion and duplication in SMN1 gene and false negative MLPA result. Gene Rep 100440","DOI":"10.1016\/j.genrep.2019.100440"},{"key":"1789_CR66","doi-asserted-by":"crossref","unstructured":"Sharifi Z, Rahiminejad F, Joudaki A, Bandehi AS, Farahzadi H, Keshvar Y, Golnabi F, Naderi S, Yazdani R, Shafaat M (2019b) Development and validation of a novel panel of 16 STR markers for simultaneous diagnosis of \u03b2-thalassemia, aneuploidy screening, maternal cell contamination detection and fetal sample authenticity in PND and PGD\/PGS cases. Scientific Rep 9:7452","DOI":"10.1038\/s41598-019-43892-2"},{"key":"1789_CR67","doi-asserted-by":"crossref","unstructured":"Straub V, Murphy A, Udd B, group tEws (2018) 229th ENMC international workshop: Limb girdle muscular dystrophies\u2013nomenclature and reformed classification Naarden, The Netherlands, 17\u201319 March 2017. Neuromuscular Disorders","DOI":"10.1016\/j.nmd.2018.05.007"},{"key":"1789_CR68","doi-asserted-by":"crossref","first-page":"3245","DOI":"10.3390\/ijms13033245","volume":"13","author":"L Stuppia","year":"2012","unstructured":"Stuppia L, Antonucci I, Palka G, Gatta V (2012) Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int J Mol Sci 13:3245\u20133276","journal-title":"Int J Mol Sci"},{"key":"1789_CR69","doi-asserted-by":"crossref","unstructured":"Sumner CJ, Crawford TO (2018) Two breakthrough gene-targeted treatments for spinal muscular atrophy: Challenges remain. J Clin Investig 128:3219-3227","DOI":"10.1172\/JCI121658"},{"key":"1789_CR70","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/0022-510X(92)90249-K","volume":"113","author":"B Udd","year":"1992","unstructured":"Udd B, Rapola J, Nokelainen P, Arikawa E, Somer H (1992) Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. J Neurol Sci 113:214\u2013221","journal-title":"J Neurol Sci"},{"key":"1789_CR71","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/ana.10647","volume":"54","author":"PY Van den Bergh","year":"2003","unstructured":"Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B (2003) Tibial muscular dystrophy in a Belgian family. Ann Neurol 54:248\u2013251","journal-title":"Ann Neurol"},{"key":"1789_CR72","doi-asserted-by":"crossref","unstructured":"Venselaar H, te Beek TA, Kuipers RK, Hekkelman ML, Vriend G (2010) Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinform 11:548","DOI":"10.1186\/1471-2105-11-548"},{"key":"1789_CR73","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","volume":"12","author":"IE Verhaart","year":"2017","unstructured":"Verhaart IE, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochm\u00fcller H (2017) Prevalence, incidence and carrier frequency of 5q\u2013linked spinal muscular atrophy\u2013a literature review. Orphanet J Rare Dis 12:124","journal-title":"Orphanet J Rare Dis"},{"key":"1789_CR74","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.nmd.2010.05.012","volume":"20","author":"LB Waddell","year":"2010","unstructured":"Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF (2010) Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord 20:464\u2013466","journal-title":"Neuromuscul Disord"},{"key":"1789_CR75","doi-asserted-by":"crossref","first-page":"13241","DOI":"10.1074\/jbc.M413696200","volume":"280","author":"X Wang","year":"2005","unstructured":"Wang X, Huang Q-Q, Breckenridge MT, Chen A, Crawford TO, Morton DH, Jin J-P (2005) Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. J Biol Chem 280:13241\u201313249","journal-title":"J Biol Chem"},{"key":"1789_CR76","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1442-200X.2007.02302.x","volume":"49","author":"MS Watihayati","year":"2007","unstructured":"Watihayati MS, ZABIDI-HUSSIN AM, Tang TH, Matsuo M, Nishio H (2007) Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients. Pediatr Int 49:11\u201314","journal-title":"Pediatr Int"},{"key":"1789_CR77","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","volume":"15","author":"B Wirth","year":"2000","unstructured":"Wirth B (2000) An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 15:228\u2013237","journal-title":"Hum Mutat"},{"key":"1789_CR78","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1086\/301608","volume":"61","author":"B Wirth","year":"1997","unstructured":"Wirth B, Schmidt T, Hahnen E, Rudnik-Sch\u00f6neborn S, Krawczak M, M\u00fcller-Myhsok B, Sch\u00f6nling J, Zerres K (1997) De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 61:1102\u20131111","journal-title":"Am J Hum Genet"},{"key":"1789_CR79","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/S0960-8966(99)00016-4","volume":"9","author":"K Zerres","year":"1999","unstructured":"Zerres K, Davies KE (1999) 59th ENMC international workshop: spinal muscular atrophies: recent progress and revised diagnostic criteria 17\u201319 April 1998, Soestduinen, The Netherlands. Neuromuscul Disord 9:272\u2013278","journal-title":"Neuromuscul Disord"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01789-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12031-020-01789-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01789-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,11]],"date-time":"2021-11-11T19:16:40Z","timestamp":1636658200000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12031-020-01789-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,22]]},"references-count":79,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["1789"],"URL":"https:\/\/doi.org\/10.1007\/s12031-020-01789-0","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,22]]},"assertion":[{"value":"12 December 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 December 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 January 2021","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":"On behalf of all authors, the corresponding author states that there is no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}