{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T14:49:17Z","timestamp":1770907757541,"version":"3.50.1"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T00:00:00Z","timestamp":1684972800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T00:00:00Z","timestamp":1684972800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"DOI":"10.1007\/s10048-023-00719-7","type":"journal-article","created":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T18:02:47Z","timestamp":1685037767000},"page":"189-200","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["COLQ-related congenital myasthenic syndrome: An integrative view"],"prefix":"10.1007","volume":"24","author":[{"given":"Tina","family":"Eshaghian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bahareh","family":"Rabbani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza Shervin","family":"Badv","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahar","family":"Mikaeeli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behdad","family":"Gharib","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley","family":"Iyadurai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8614-1538","authenticated-orcid":false,"given":"Nejat","family":"Mahdieh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,5,25]]},"reference":[{"key":"719_CR1","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1212\/WNL.10.11.1007","volume":"10","author":"JG Millichap","year":"1960","unstructured":"Millichap JG, Dodge PR (1960) Diagnosis and treatment of myasthenia gravis in infancy, childhood, and adolescence: a study of 51 patients. Neurology 10:1007\u20131014","journal-title":"Neurology"},{"key":"719_CR2","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1136\/archdischild-2013-304788","volume":"99","author":"JR Parr","year":"2014","unstructured":"Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S (2014) How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia. Arch Dis Child 99:539\u2013542","journal-title":"Arch Dis Child"},{"key":"719_CR3","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1016\/j.coph.2004.12.007","volume":"5","author":"AG Engel","year":"2005","unstructured":"Engel AG, Sine SM (2005) Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 5:308\u2013321","journal-title":"Curr Opin Pharmacol"},{"key":"719_CR4","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1016\/j.pediatrneurol.2012.02.003","volume":"46","author":"A Guven","year":"2012","unstructured":"Guven A, Demirci M, Anlar B (2012) Recurrent COLQ mutation in congenital myasthenic syndrome. Pediatr Neurol 46:253\u2013256","journal-title":"Pediatr Neurol"},{"key":"719_CR5","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1055\/s-0040-1715625","volume":"52","author":"M Mroczek","year":"2021","unstructured":"Mroczek M, Zafeiriou D, Gurgel-Gianetti J, Morais V, de Azevedo B, Roos A, Bartels E et al (2021) Three individuals with PURA syndrome in a cohort of patients with neuromuscular disease. Neuropediatrics 52:390\u2013393","journal-title":"Neuropediatrics"},{"key":"719_CR6","doi-asserted-by":"crossref","unstructured":"Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG (2023) Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review. Int J Mol Sci 24(4):3730","DOI":"10.3390\/ijms24043730"},{"key":"719_CR7","doi-asserted-by":"crossref","unstructured":"Mroczek M, Iyadurai S (2023) Neuromuscular and neuromuscular junction manifestations of the PURA-NDD: a systematic review of the reported symptoms and potential treatment options. Int J Mol Sci 24","DOI":"10.3390\/ijms24032260"},{"key":"719_CR8","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1002\/ana.410010403","volume":"1","author":"AG Engel","year":"1977","unstructured":"Engel AG, Lambert EH, Gomez MR (1977) A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann Neurol 1:315\u2013330","journal-title":"Ann Neurol"},{"key":"719_CR9","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/0301-0082(93)90040-Y","volume":"41","author":"J Massoulie","year":"1993","unstructured":"Massoulie J, Pezzementi L, Bon S, Krejci E, Vallette FM (1993) Molecular and cellular biology of cholinesterases. Prog Neurobiol 41:31\u201391","journal-title":"Prog Neurobiol"},{"key":"719_CR10","doi-asserted-by":"publisher","first-page":"3016","DOI":"10.1074\/jbc.272.5.3016","volume":"272","author":"S Bon","year":"1997","unstructured":"Bon S, Coussen F, Massoulie J (1997) Quaternary associations of acetylcholinesterase. II. The polyproline attachment domain of the collagen tail. J Biol Chem 272:3016\u20133021","journal-title":"J Biol Chem"},{"key":"719_CR11","doi-asserted-by":"crossref","unstructured":"Coudert E, Gehant S, de Castro E, Pozzato M, Baratin D, Neto T et al (2023) Annotation of biologically relevant ligands in UniProtKB using ChEBI. Bioinformatics 39","DOI":"10.1101\/2022.08.19.504519"},{"key":"719_CR12","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1146\/annurev.genom.7.080505.115630","volume":"7","author":"PC Ng","year":"2006","unstructured":"Ng PC, Henikoff S (2006) Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 7:61\u201380","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"719_CR13","doi-asserted-by":"publisher","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","volume":"7","author":"Y Choi","year":"2012","unstructured":"Choi Y, Sims GE, Murphy S, Miller JR, Chan AP (2012) Predicting the functional effect of amino acid substitutions and indels. PLoS One 7:e46688","journal-title":"PLoS One"},{"key":"719_CR14","doi-asserted-by":"publisher","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 et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249","journal-title":"Nat Methods"},{"key":"719_CR15","doi-asserted-by":"publisher","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\u2013315","journal-title":"Nat Genet"},{"key":"719_CR16","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1016\/j.nmd.2011.09.002","volume":"22","author":"I Wargon","year":"2012","unstructured":"Wargon I, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K et al (2012) Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Neuromuscul Disord : NMD 22:318\u2013324","journal-title":"Neuromuscul Disord : NMD"},{"key":"719_CR17","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1002\/1531-8249(200002)47:2<162::AID-ANA5>3.0.CO;2-Q","volume":"47","author":"K Ohno","year":"2000","unstructured":"Ohno K, Engel AG, Brengman JM, Shen XM, Heidenreich F, Vincent A et al (2000) The spectrum of mutations causing end-plate acetylcholinesterase deficiency. Ann Neurol 47:162\u2013170","journal-title":"Ann Neurol"},{"key":"719_CR18","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1093\/brain\/awm325","volume":"131","author":"V Mihaylova","year":"2008","unstructured":"Mihaylova V, Muller JS, Vilchez JJ, Salih MA, Kabiraj MM, D\u2019Amico A et al (2008) Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain J Neurol 131:747\u2013759","journal-title":"Brain J Neurol"},{"key":"719_CR19","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1002\/acn3.51346","volume":"8","author":"Y Zhao","year":"2021","unstructured":"Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M et al (2021) Congenital myasthenic syndrome in China: genetic and myopathological characterization. Ann Clin Transl Neurol 8:898\u2013907","journal-title":"Ann Clin Transl Neurol"},{"key":"719_CR20","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1002\/humu.22325","volume":"34","author":"T Nakata","year":"2013","unstructured":"Nakata T, Ito M, Azuma Y, Otsuka K, Noguchi Y, Komaki H et al (2013) Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction. Hum Mutat 34:997\u20131004","journal-title":"Hum Mutat"},{"key":"719_CR21","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/j.pediatrneurol.2014.03.012","volume":"51","author":"HN Matlik","year":"2014","unstructured":"Matlik HN, Milhem RM, Saadeldin IY, Al-Jaibeji HS, Al-Gazali L, Ali BR (2014) Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. Pediatr Neurol 51:165\u2013169","journal-title":"Pediatr Neurol"},{"key":"719_CR22","doi-asserted-by":"publisher","first-page":"679342","DOI":"10.3389\/fped.2021.679342","volume":"9","author":"X Luo","year":"2021","unstructured":"Luo X, Wang C, Lin L, Yuan F, Wang S, Wang Y et al (2021) Mechanisms of congenital myasthenia caused by three mutations in the COLQ gene. Front Pediatr 9:679342","journal-title":"Front Pediatr"},{"key":"719_CR23","doi-asserted-by":"crossref","unstructured":"Gul Mert G, Ozcan N, Herguner O, Altunbasak S, Incecik F, Bisgin A, Ceylaner S (2019) Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients. Acta Neurol Belg 121(2):529\u2013534","DOI":"10.1007\/s13760-019-01246-9"},{"key":"719_CR24","doi-asserted-by":"publisher","first-page":"1281","DOI":"10.1212\/WNL.0000000000001396","volume":"84","author":"R Al-Shahoumi","year":"2015","unstructured":"Al-Shahoumi R, Brady LI, Schwartzentruber J, Tarnopolsky MA (2015) Two cases of congenital myasthenic syndrome with vocal cord paralysis. Neurology 84:1281\u20131282","journal-title":"Neurology"},{"key":"719_CR25","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1007\/s00439-013-1391-3","volume":"133","author":"J Arredondo","year":"2014","unstructured":"Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP et al (2014) COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina. Hum Genet 133:599\u2013616","journal-title":"Hum Genet"},{"key":"719_CR26","doi-asserted-by":"publisher","first-page":"6999","DOI":"10.1007\/s11033-021-06530-7","volume":"48","author":"R Khaoula","year":"2021","unstructured":"Khaoula R, Cerino M, Da Silva N, Delague V, Nahili H, Kriouile Y et al (2021) First characterization of congenital myasthenic syndrome type 5 in North Africa. Mol Biol Rep 48:6999\u20137006","journal-title":"Mol Biol Rep"},{"key":"719_CR27","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1097\/CND.0000000000000222","volume":"20","author":"P Selvam","year":"2018","unstructured":"Selvam P, Arunachal G, Danda S, Chapla A, Sivadasan A, Alexander M et al (2018) Congenital myasthenic syndrome: spectrum of mutations in an Indian cohort. J Clin Neuromuscul Dis 20:14\u201327","journal-title":"J Clin Neuromuscul Dis"},{"key":"719_CR28","doi-asserted-by":"crossref","unstructured":"Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, Thong MK (2019) Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors. J Clin Neurosci: Official J Neurosurg Soc Australas 72:468\u2013471","DOI":"10.1016\/j.jocn.2019.12.007"},{"key":"719_CR29","doi-asserted-by":"publisher","first-page":"10997","DOI":"10.1074\/jbc.M305462200","volume":"279","author":"LM Kimbell","year":"2004","unstructured":"Kimbell LM, Ohno K, Engel AG, Rotundo RL (2004) C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse. J Biol Chem 279:10997\u201311005","journal-title":"J Biol Chem"},{"key":"719_CR30","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1086\/302059","volume":"63","author":"C Donger","year":"1998","unstructured":"Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S et al (1998) Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Am J Hum Genet 63:967\u2013975","journal-title":"Am J Hum Genet"},{"key":"719_CR31","doi-asserted-by":"publisher","first-page":"1474","DOI":"10.1002\/humu.22130","volume":"33","author":"A Abicht","year":"2012","unstructured":"Abicht A, Dusl M, Gallenm\u00fcller C, Guergueltcheva V, Schara U, Della Marina A et al (2012) Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat 33:1474\u20131484","journal-title":"Hum Mutat"},{"key":"719_CR32","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1055\/s-2004-820996","volume":"35","author":"JS Muller","year":"2004","unstructured":"Muller JS, Petrova S, Kiefer R, Stucka R, Konig C, Baumeister SK et al (2004) Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. Neuropediatrics 35:183\u2013189","journal-title":"Neuropediatrics"},{"key":"719_CR33","doi-asserted-by":"publisher","first-page":"e13272","DOI":"10.1016\/j.heliyon.2023.e13272","volume":"9","author":"Q Zhang","year":"2023","unstructured":"Zhang Q, Sha Q, Qiao K, Liu X, Gong X, Du A (2023) Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect. Heliyon 9:e13272","journal-title":"Heliyon"},{"key":"719_CR34","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1212\/WNL.58.4.603","volume":"58","author":"YA Shapira","year":"2002","unstructured":"Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM et al (2002) Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology 58:603\u2013609","journal-title":"Neurology"},{"key":"719_CR35","doi-asserted-by":"publisher","first-page":"228","DOI":"10.4103\/0028-3886.310105","volume":"69","author":"JJ Pallithanam","year":"2021","unstructured":"Pallithanam JJ, Prabhudesai SP, Naik N, Gauns S (2021) COLQ-related congenital myasthenic syndrome in a child from Western India. Neurol India 69:228\u2013229","journal-title":"Neurol India"},{"key":"719_CR36","doi-asserted-by":"publisher","first-page":"9654","DOI":"10.1073\/pnas.95.16.9654","volume":"95","author":"K Ohno","year":"1998","unstructured":"Ohno K, Brengman J, Tsujino A, Engel AG (1998) Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci U S A 95:9654\u20139659","journal-title":"Proc Natl Acad Sci U S A"},{"key":"719_CR37","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1016\/j.nmd.2016.11.014","volume":"27","author":"S Aharoni","year":"2017","unstructured":"Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor-Wollman T et al (2017) Congenital myasthenic syndrome in Israel: genetic and clinical characterization. Neuromuscul Disord : NMD 27:136\u2013140","journal-title":"Neuromuscul Disord : NMD"},{"key":"719_CR38","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1016\/j.nmd.2006.11.010","volume":"17","author":"F Schreiner","year":"2007","unstructured":"Schreiner F, Hoppenz M, Klaeren R, Reimann J, Woelfle J (2007) Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives. Neuromuscul Disord: NMD 17:262\u2013265","journal-title":"Neuromuscul Disord: NMD"},{"key":"719_CR39","doi-asserted-by":"publisher","first-page":"439","DOI":"10.3233\/JIN-180080","volume":"17","author":"QL Zhang","year":"2018","unstructured":"Zhang QL, Xu MJ, Wang TL, Zhu ZQ, Lai F, Zheng XC (2018) Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency. J Integr Neurosci 17:439\u2013446","journal-title":"J Integr Neurosci"},{"key":"719_CR40","doi-asserted-by":"publisher","first-page":"e117","DOI":"10.1212\/NXG.0000000000000117","volume":"2","author":"W Wang","year":"2016","unstructured":"Wang W, Wu Y, Wang C, Jiao J, Klein CJ (2016) Copy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myasthenia. Neurology Genetics 2:e117","journal-title":"Neurology Genetics"},{"key":"719_CR41","doi-asserted-by":"crossref","unstructured":"Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D et al (2020) The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the C-terminal region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) protein. Genes 11","DOI":"10.3390\/genes11121519"},{"key":"719_CR42","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1186\/s12883-022-02822-y","volume":"22","author":"Y El Kadiri","year":"2022","unstructured":"El Kadiri Y, Ratbi I, Sefiani A, Lyahyai J (2022) Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature. BMC Neurol 22:292","journal-title":"BMC Neurol"},{"key":"719_CR43","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1016\/s0960-8966(02)00243-2","volume":"13","author":"K Ishigaki","year":"2003","unstructured":"Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M et al (2003) Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. Neuromuscul Disord : NMD 13:236\u2013244","journal-title":"Neuromuscul Disord : NMD"},{"key":"719_CR44","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.pediatrneurol.2012.04.022","volume":"47","author":"SH Chan","year":"2012","unstructured":"Chan SH, Wong VC, Engel AG (2012) Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. Pediatr Neurol 47:137\u2013140","journal-title":"Pediatr Neurol"},{"key":"719_CR45","doi-asserted-by":"publisher","first-page":"e243","DOI":"10.1111\/j.1469-8749.2010.03663.x","volume":"52","author":"WL Yeung","year":"2010","unstructured":"Yeung WL, Lam CW, Ng PC (2010) Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations. Dev Med Child Neurol 52:e243\u2013e244","journal-title":"Dev Med Child Neurol"},{"key":"719_CR46","doi-asserted-by":"crossref","unstructured":"Pattrakornkul N, Ittiwut C, Boonsimma P, Boonyapisit K, Khongkhatithum C, Sanmaneechai O et al (2020) Congenital myasthenic syndromes in the Thai population: clinical findings and novel mutations. Neuromuscul Disord: NMD 30(10):851\u2013858","DOI":"10.1016\/j.nmd.2020.08.362"},{"key":"719_CR47","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1097\/CND.0000000000000160","volume":"18","author":"H Padmanabha","year":"2017","unstructured":"Padmanabha H, Saini AG, Sankhyan N, Singhi P (2017) COLQ-related congenital myasthenic syndrome and response to salbutamol therapy. J Clin Neuromuscul Dis 18:162\u2013163","journal-title":"J Clin Neuromuscul Dis"},{"key":"719_CR48","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1086\/302551","volume":"65","author":"K Ohno","year":"1999","unstructured":"Ohno K, Brengman JM, Felice KJ, Cornblath DR, Engel AG (1999) Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? Am J Hum Genet 65:635\u2013644","journal-title":"Am J Hum Genet"},{"key":"719_CR49","first-page":"101","volume":"1","author":"F Miranda","year":"2010","unstructured":"Miranda F, Sampaio B, Barbosa C, R. G. (2010) Congenital myasthenic syndrome with mutation of RAPSN gene - a case study highlighting the importance of the early diagnosis. ICNApedia eJ 1:101\u2013103","journal-title":"ICNApedia eJ"},{"key":"719_CR50","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1016\/j.ijporl.2013.02.021","volume":"77","author":"E Davoudi-Dehaghani","year":"2013","unstructured":"Davoudi-Dehaghani E, Zeinali S, Mahdieh N, Shirkavand A, Bagherian H, Tabatabaiefar MA (2013) A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect. Int J Pediatr Otorhinolaryngol 77:821\u2013826","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"719_CR51","doi-asserted-by":"publisher","first-page":"139","DOI":"10.4103\/0972-2327.64645","volume":"13","author":"RS Kumar","year":"2010","unstructured":"Kumar RS, Kuruvilla A (2010) Repetitive compound muscle action potentials in electrophysiological diagnosis of congenital myasthenic syndromes: a case report and review of literature. Ann Indian Acad Neurol 13:139\u2013141","journal-title":"Ann Indian Acad Neurol"},{"key":"719_CR52","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1093\/protein\/13.1.27","volume":"13","author":"P Deprez","year":"2000","unstructured":"Deprez P, Inestrosa NC (2000) Molecular modeling of the collagen-like tail of asymmetric acetylcholinesterase. Protein Eng 13:27\u201334","journal-title":"Protein Eng"},{"key":"719_CR53","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1038\/nrn1101","volume":"4","author":"AG Engel","year":"2003","unstructured":"Engel AG, Ohno K, Sine SM (2003) Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci 4:339\u2013352","journal-title":"Nat Rev Neurosci"},{"key":"719_CR54","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1083\/jcb.200307164","volume":"165","author":"A Cartaud","year":"2004","unstructured":"Cartaud A, Strochlic L, Guerra M, Blanchard B, Lambergeon M, Krejci E et al (2004) MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. J Cell Biol 165:505\u2013515","journal-title":"J Cell Biol"},{"key":"719_CR55","doi-asserted-by":"publisher","first-page":"663","DOI":"10.7754\/Clin.Lab.2013.130630","volume":"60","author":"F Maleki","year":"2014","unstructured":"Maleki F, Haghani K, Shokouhi S, Mahmoodi K, Sayehmiri K, Mahdieh N, Bakhtiyari S (2014) A case-control study on the association of common variants of CAPN10 gene and the risk of type 2 diabetes in an Iranian population. Clin Lab 60:663\u2013670","journal-title":"Clin Lab"},{"key":"719_CR56","first-page":"104","volume":"5","author":"Y Riazalhosseini","year":"2005","unstructured":"Riazalhosseini Y, Nishimura C, Kahrizi K, Shafeghati Y, Daneshi A, Jogataie MT et al (2005) Delta (GJB6-D13S1830) is not a common cause of nonsyndromic hearing loss in the Iranian population. Arch Iran Med 5:104\u2013108","journal-title":"Arch Iran Med"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-023-00719-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-023-00719-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-023-00719-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,4]],"date-time":"2023-07-04T11:42:17Z","timestamp":1688470937000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-023-00719-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,25]]},"references-count":56,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,7]]}},"alternative-id":["719"],"URL":"https:\/\/doi.org\/10.1007\/s10048-023-00719-7","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,25]]},"assertion":[{"value":"14 March 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 May 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 May 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declaration"}},{"value":"This study was approved by ethical committee of Growth and Development Research Center.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}