{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:54:52Z","timestamp":1792000492116,"version":"4.4.0"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T00:00:00Z","timestamp":1626134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1122952"],"award-info":[{"award-number":["APP1122952"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1080587"],"award-info":[{"award-number":["APP1080587"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP2002640"],"award-info":[{"award-number":["APP2002640"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Rare pathogenic variants in\n                    <jats:italic>TOR1AIP1<\/jats:italic>\n                    (OMIM 614512), coding the inner nuclear membrane protein lamin\u2010associated protein 1 (LAP1), have been associated with a spectrum of disorders including limb girdle muscular dystrophy with cardiac involvement and a severe multisystem phenotype. Recently, Cossins et al reported two siblings with limb girdle muscular dystrophy and impaired transmission of the neuromuscular synapse, demonstrating that defective LAP1 may lead to a congenital myasthenic syndrome. Herein, we describe the association of\n                    <jats:italic>TOR1AIP1<\/jats:italic>\n                    deficiency with congenital myasthenic syndrome in three siblings.\n                  <\/jats:p>","DOI":"10.1111\/nan.12743","type":"journal-article","created":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T22:50:00Z","timestamp":1624488600000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A\n                    <i>TOR1AIP1<\/i>\n                    variant segregating with an early onset limb girdle myasthenia\u2014Support for the role of LAP1 in NMJ function and disease"],"prefix":"10.1111","volume":"48","author":[{"given":"Edoardo","family":"Malfatti","sequence":"first","affiliation":[{"name":"APHP, North\u2010East\u2010Ile\u2010de\u2010France Neuromuscular Pathology Reference Center Henri\u2010Mondor University Hospital  Paris France"},{"name":"UVSQ\u2010INSERM Neuromuscular Handicap: Applied Physiology, Biotherapy and Pharmacology, UFR Simone Veil\u2010Sant\u00e9 Versailles Saint\u2010Quentin\u2010en\u2010Yvelines University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Catchpool","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Centre of Medical Research University of Western Australia  Nedlands Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Nouioua","sequence":"additional","affiliation":[{"name":"Department of Neurology of the EHS of Cherchell University Centre of Tipaza  Tipaza Algeria"},{"name":"NeuroSciences Research Laboratory University of Algiers Benyoucef Benkhedda  Alger Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hellal","family":"Sihem","sequence":"additional","affiliation":[{"name":"NeuroSciences Research Laboratory University of Algiers Benyoucef Benkhedda  Alger Algeria"},{"name":"Central Laboratory of Biochemistry CHU Mustapha  Algiers Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Fournier","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurophysiology, GH Piti\u00e9\u2010Salp\u00eatri\u00e8re Sorbonne University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert Y.","family":"Carlier","sequence":"additional","affiliation":[{"name":"APHP, DMU Smart Imaging, Medical imaging Department Raymond Poincar\u00e9 Teaching Hospital, North\u2010East\u2010Ile\u2010de\u2010France Neuromuscular Pathology Reference Center, GH University Paris\u2010Saclay  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nastasia","family":"Cardone","sequence":"additional","affiliation":[{"name":"APHP, North\u2010East\u2010Ile\u2010de\u2010France Neuromuscular Pathology Reference Center Henri\u2010Mondor University Hospital  Paris France"},{"name":"Department of Medicine, Surgery and Neurosciences University of Siena  Siena Italy"},{"name":"Department of Neuroscience, Psychology, Drug Research and Child Health University of Florence  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark R.","family":"Davis","sequence":"additional","affiliation":[{"name":"PathWest Diagnostic Genomics  Nedlands Western Australia Australia"},{"name":"School of Biomedical Sciences University of Western Australia  Nedlands Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel G.","family":"Laing","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Centre of Medical Research University of Western Australia  Nedlands Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sternberg","sequence":"additional","affiliation":[{"name":"APHP, Metabolic Biochemistry Department, Genetics Center, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Group, Center of Research in Myology APHP Sorbonne University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianina","family":"Ravenscroft","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Centre of Medical Research University of Western Australia  Nedlands Western Australia Australia"},{"name":"School of Biomedical Sciences University of Western Australia  Nedlands Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51002"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.04.007"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-02105-6"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-08493-7"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcaa174"}],"container-title":["Neuropathology and Applied 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