{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:22:01Z","timestamp":1792131721830,"version":"4.4.0"},"reference-count":40,"publisher":"Frontiers Media SA","content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"DOI":"10.3389\/fneur.2017.00567","type":"journal-article","created":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T10:29:23Z","timestamp":1509445763000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":28,"title":["Mutation Analysis of Consanguineous Moroccan Patients with Parkinson\u2019s Disease Combining Microarray and Gene Panel"],"prefix":"10.3389","volume":"8","author":[{"given":"Ahmed","family":"Bouhouche","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Tesson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wafaa","family":"Regragui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mounia","family":"Rahmani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Drouet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houyam","family":"Tibar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zouhayr","family":"Souirti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafiqua","family":"Ben El Haj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naima","family":"Bouslam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Yahyaoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Benomar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Lesage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2017,10,31]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1152\/physrev.00022.2010","article-title":"What genetics tells us about the causes and mechanisms of Parkinson\u2019s disease","volume":"91","author":"Corti","year":"2011","journal-title":"Physiol Rev"},{"key":"B2","doi-asserted-by":"publisher","first-page":"R183","DOI":"10.1093\/hmg\/ddm159","article-title":"Parkinson\u2019s disease","volume":"16","author":"Thomas","year":"2007","journal-title":"Hum Mol Genet"},{"key":"B3","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1136\/jnnp.2007.131045","article-title":"Parkinson\u2019s disease: clinical features and diagnosis","volume":"79","author":"Jankovic","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"B4","doi-asserted-by":"publisher","first-page":"S23","DOI":"10.1016\/S1353-8020(13)70009-9","article-title":"Genetics of Parkinson\u2019s disease\u2013\u2013state of the art, 2013","volume":"20","author":"Bonifati","year":"2014","journal-title":"Parkinsonism Relat Disord"},{"key":"B5","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1186\/gm566","article-title":"Genetics and genomics of Parkinson\u2019s disease","volume":"6","author":"Lin","year":"2014","journal-title":"Genome Med"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1522","DOI":"10.1002\/mds.25132","article-title":"Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson\u2019s disease","volume":"27","author":"Kilarski","year":"2012","journal-title":"Mov Disord"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e36458","DOI":"10.1371\/journal.pone.0036458","article-title":"A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism","volume":"7","author":"Edvardson","year":"2012","journal-title":"PLoS One"},{"key":"B8","doi-asserted-by":"publisher","first-page":"560","DOI":"10.2174\/1389202914666131210212305","article-title":"Parkinson\u2019s disease: from genetics to clinical practice","volume":"14","author":"Clarim\u00f3n","year":"2013","journal-title":"Curr Genomics"},{"key":"B9","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1016\/j.ajhg.2016.01.014","article-title":"Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1\/Parkin-dependent mitophagy","volume":"98","author":"Lesage","year":"2016","journal-title":"Am J Hum Genet"},{"key":"B10","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1136\/jmedgenet-2015-103459","article-title":"Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile parkinsonism","volume":"53","author":"Sudhaman","year":"2016","journal-title":"J Med Genet"},{"key":"B11","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1006\/bbrc.2001.5490","article-title":"The genomic structure and promoter region of the human parkin gene","volume":"286","author":"Asakawa","year":"2001","journal-title":"Biochem Biophys Res Commun"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1560","DOI":"10.1056\/NEJM200005253422103","article-title":"Association between early-onset Parkinson\u2019s disease and mutations in the parkin gene","volume":"342","author":"L\u00fccking","year":"2000","journal-title":"N Engl J Med"},{"key":"B13","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1002\/mds.25249","article-title":"The genetics of Parkinson\u2019s disease: progress and therapeutic implications","volume":"28","author":"Singleton","year":"2013","journal-title":"Mov Disord"},{"key":"B14","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.neuron.2014.12.007","article-title":"The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson\u2019s disease","volume":"85","author":"Pickrell","year":"2015","journal-title":"Neuron"},{"key":"B15","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1089\/ars.2014.6206","article-title":"Beyond mitophagy: cytosolic PINK1 as a messenger of mitochondrial health","volume":"22","author":"Steer","year":"2015","journal-title":"Antioxid Redox Signal"},{"key":"B16","doi-asserted-by":"publisher","first-page":"a008888","DOI":"10.1101\/cshperspect.a008888","article-title":"Genetics of Parkinson\u2019s disease","volume":"2","author":"Klein","year":"2012","journal-title":"Cold Spring Harb Perspect Med"},{"key":"B17","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1111\/jnc.13593","article-title":"Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance","volume":"139","author":"Hernandez","year":"2016","journal-title":"J Neurochem"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2017.04.008","article-title":"Trumping neurodegeneration: targeting common pathways regulated by autosomal recessive Parkinson\u2019s disease genes","author":"Scott","year":"2017","journal-title":"Exp Neurol"},{"key":"B19","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1016\/j.mcp.2016.11.001","article-title":"Genetics of Parkinson\u2019s disease","volume":"30","author":"Lill","year":"2016","journal-title":"Mol Cell Probes"},{"key":"B20","doi-asserted-by":"publisher","first-page":"67","DOI":"10.2147\/TACG.S11639","article-title":"Genetic basis of Parkinson\u2019s disease: inheritance, penetrance, and expression","volume":"4","author":"Schulte","year":"2011","journal-title":"Appl Clin Genet"},{"key":"B21","doi-asserted-by":"publisher","first-page":"1356","DOI":"10.1212\/WNL.0b013e3181f73649","article-title":"Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism","volume":"75","author":"Yoshino","year":"2010","journal-title":"Neurology"},{"key":"B22","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1212\/01.wnl.0000338144.10967.2b","article-title":"FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome","volume":"72","author":"Di Fonzo","year":"2009","journal-title":"Neurology"},{"key":"B23","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1016\/j.parkreldis.2012.11.006","article-title":"DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability","volume":"19","author":"K\u00f6ro\u011flu","year":"2013","journal-title":"Parkinsonism Relat Disord"},{"key":"B24","doi-asserted-by":"publisher","first-page":"3","DOI":"10.21767\/2471-299X.100028","article-title":"Mechanisms implicated in Parkinson disease from genetic perspective","volume":"2","author":"Popescu","year":"2016","journal-title":"Med Clin Rev"},{"key":"B25","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1002\/humu.22372","article-title":"The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures","volume":"34","author":"Krebs","year":"2013","journal-title":"Hum Mutat"},{"key":"B26","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1002\/humu.22373","article-title":"Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism","volume":"34","author":"Quadri","year":"2013","journal-title":"Hum Mutat"},{"key":"B27","doi-asserted-by":"publisher","first-page":"e7","DOI":"10.1016\/j.neurobiolaging.2015.06.009","article-title":"Mutational analysis of SYNJ1 gene (PARK20) in Parkinson\u2019s disease in a Taiwanese population","volume":"36","author":"Chen","year":"2015","journal-title":"Neurobiol Aging"},{"key":"B28","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1136\/jnnp.55.3.181","article-title":"Accuracy of clinical diagnosis of idiopathic Parkinson\u2019s disease: a clinico-pathological study of 100 cases","volume":"55","author":"Hughes","year":"1992","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"B29","doi-asserted-by":"publisher","first-page":"2412486","DOI":"10.1155\/2017\/2412486","article-title":"LRRK2 G2019S mutation: prevalence and clinical features in Moroccans with Parkinson\u2019s disease","volume":"2017","author":"Bouhouche","year":"2017","journal-title":"Parkinsons Dis"},{"key":"B30","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"B31","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a map reduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"B32","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"B33","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.ajhg.2010.06.006","article-title":"Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines","volume":"87","author":"Mitsui","year":"2010","journal-title":"Am J Hum Genet"},{"key":"B34","doi-asserted-by":"publisher","first-page":"e73","DOI":"10.1212\/NXG.0000000000000073","article-title":"Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD","volume":"2","author":"Morais","year":"2016","journal-title":"Neurol Genet"},{"key":"B35","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1002\/ajmg.b.30119","article-title":"Defining the ends of Parkin exon 4 deletions in two different families with Parkinson\u2019s disease","author":"Clarimon","year":"2005","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"B36","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1007\/s13353-015-0282-9","article-title":"Genomic instability in the PARK2 locus is associated with Parkinson\u2019s disease","volume":"56","author":"Ambroziak","year":"2015","journal-title":"J Appl Genet"},{"key":"B37","doi-asserted-by":"publisher","first-page":"3460234","DOI":"10.1155\/2016\/3460234","article-title":"A novel homozygous p.L539F mutation identified in PINK1 gene in a Moroccan patient with parkinsonism","volume":"2016","author":"Ben El Haj","year":"2016","journal-title":"Biomed Res Int"},{"key":"B38","doi-asserted-by":"publisher","first-page":"371256","DOI":"10.1155\/2014\/371256","article-title":"Mutations in the ATP13A2 gene and parkinsonism: a preliminary review","volume":"2014","author":"Yang","year":"2014","journal-title":"Biomed Res Int"},{"key":"B39","doi-asserted-by":"publisher","first-page":"1791","DOI":"10.1002\/mds.23221","article-title":"Early onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations","volume":"25","author":"Paisan-Ruiz","year":"2010","journal-title":"Mov Disord"},{"key":"B40","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1007\/s00415-014-7270-6","article-title":"Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family","volume":"261","author":"Picillo","year":"2014","journal-title":"J Neurol"}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fneur.2017.00567\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T10:29:28Z","timestamp":1509445768000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fneur.2017.00567\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,31]]},"references-count":40,"alternative-id":["10.3389\/fneur.2017.00567"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2017.00567","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,31]]},"article-number":"567"}}