{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:53:47Z","timestamp":1790394827105,"version":"4.1.0"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","clineu-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Neurology and Neurosurgery"],"published-print":{"date-parts":[[2016,11]]},"DOI":"10.1016\/j.clineuro.2016.08.020","type":"journal-article","created":{"date-parts":[[2016,9,3]],"date-time":"2016-09-03T16:18:00Z","timestamp":1472919480000},"page":"84-88","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"special_numbering":"C","title":["Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study"],"prefix":"10.1016","volume":"150","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2804-8458","authenticated-orcid":false,"given":"Francesco","family":"Bombelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovico","family":"Lispi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro Costanzi","family":"Porrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manlio","family":"Giacanelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Terracciano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Massa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Petrucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clineuro.2016.08.020_bib0005","first-page":"193","volume":"Vol. 101","author":"Ashizawa","year":"2011"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0010","series-title":"Myotonic Dystrophy","author":"Harper","year":"2001"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0015","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1136\/jnnp.2008.158261","article-title":"The myotonic dystrophies: diagnosis and management","volume":"81","author":"Turner","year":"2010","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0020","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S1474-4422(12)70204-1","article-title":"The myotonic dystrophies: molecular, clinical, and therapeutic challenges","volume":"11","author":"Udd","year":"2012","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0025","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/j.1529-8027.2011.00313.x","article-title":"Peripheral neuropathy in myotonic dystrophy type 1","volume":"16","author":"Hermans","year":"2011","journal-title":"J. Peripher. Nerv. Syst."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0030","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1093\/brain\/109.6.1279","article-title":"Myotonic dystrophy. A reassessment by conventional and more recently introduced neurophysiological techniqes","volume":"109","author":"Jamal","year":"1986","journal-title":"Brain"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0035","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/j.1600-0404.1993.tb04206.x","article-title":"Axonal motor and sensory neuropathy in myotonic dystrophy","volume":"88","author":"Mondelli","year":"2016","journal-title":"Acta Neurol. Scand."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0040","first-page":"515","article-title":"Peripheral neuropathy in myotonic dystrophy: electrophysiological and clincial features","volume":"32","author":"Logullo","year":"1992","journal-title":"Electromyogr. Clin. Neurophysiol."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0045","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/j.1529-8027.2011.00313.x","article-title":"Peripheral neuropathy in myotonic dystrophy type 1","volume":"16","author":"Hermans","year":"2011","journal-title":"J. Peripher. Nerv. Syst."},{"issue":"4","key":"10.1016\/j.clineuro.2016.08.020_bib0050","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1179\/1743132812Y.0000000144","article-title":"Peripheral neuropathyin patients with myotonic dystrophy type 1","volume":"35","author":"Peric","year":"2013","journal-title":"Neurol. Res."},{"issue":"10","key":"10.1016\/j.clineuro.2016.08.020_bib0055","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1016\/j.jocn.2007.11.002","article-title":"Abnormalities of nerve conduction studies in myotonic dystrophy type 1: primary involvement of nerves or indidental coexistence?","volume":"15","author":"Bae","year":"2008","journal-title":"J. Clin. Neurosci."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0060","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1001\/archneur.1976.00500010035006","article-title":"Peripheral neuropathy morphometry in myotonic dystrophy","volume":"33","author":"Pollock","year":"1976","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0065","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/0022-510X(76)90136-2","article-title":"The lack of deep reflexes in myotonic dystrophy","volume":"30","author":"Messina","year":"1976","journal-title":"J. Neurol. Sci."},{"issue":"6","key":"10.1016\/j.clineuro.2016.08.020_bib0070","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1136\/jnnp.2008.165035","article-title":"A polydomnographic study of daytime sleepiness in myotonic dystrophy type 1","volume":"80","author":"Laberge","year":"2016","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"2","key":"10.1016\/j.clineuro.2016.08.020_bib0075","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1093\/sleep\/34.2.165","article-title":"Daytime sleepiness and REM sleep characteristics in myotonic dystrophy: a case-control study","volume":"34","author":"Yu","year":"2016","journal-title":"Sleep"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0080","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/mus.20301","article-title":"Clinical and molecular aspects of the myotonic dystrophies: a review","volume":"32","author":"Machuca-Tzili","year":"2005","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0085","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1002\/mus.20516","article-title":"Axonal function and activity-dependent excitability changes in myotonic dystrophy","volume":"33","author":"Krishnan","year":"2006","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0090","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1093\/brain\/84.1.75","article-title":"The histology of the neuromuscular junction in dystrophia myotonica","volume":"84","author":"MacDermot","year":"1961","journal-title":"Brain"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0095","series-title":"Ontogenesis and Functional Mechanisms of Peripheral Synapses: Proceedings of the INSEREM Symposium on Ontogenesis and Functional Mechanisms of Peripheral Synapses","first-page":"287","article-title":"Light and electron microscopic study of motor endplates in the adult and neo-natal forms of dystrophia myotonica","author":"Fardeau","year":"1980"},{"issue":"Suppl (13)","key":"10.1016\/j.clineuro.2016.08.020_bib0100","doi-asserted-by":"crossref","first-page":"S16","DOI":"10.1002\/mus.880131307","article-title":"Manual muscle testing","author":"Mendell","year":"1990","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0105","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1212\/WNL.56.3.336","article-title":"Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy","volume":"56","author":"Mathieu","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0110","series-title":"Principles and Practice","article-title":"Electrodiagnosis in diseases ofNerve and muscle","author":"Kimura","year":"2001"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0115","first-page":"1","article-title":"Jitter recordings with concentric needle electrodes","volume":"33","author":"Staltberg","year":"2009","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0120","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1002\/mus.21043","article-title":"Reference jitter values for concentric needle electrodes in voluntarily activated extensor digitorum communis and orbicularis oculi muscles","volume":"37","author":"Kouyoumdjian","year":"2008","journal-title":"Muscle Nerve"},{"issue":"9","key":"10.1016\/j.clineuro.2016.08.020_bib0125","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1002\/mus.1139","article-title":"American Association of Electrodiagnostic Medicine: Practice parameter for repetitive nerve stimulation and single fiber EMG evaluation of adults with suspected myasthenia gravis or Lambert Eaton myasthenic syndrome","volume":"24","author":"AAEM Quality Assurance Committee","year":"2001","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0130","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1136\/jnnp.37.12.1336","article-title":"Muscle weakness after rest in myotonic disorders: an electrophysiological study","volume":"37","author":"Brown","year":"1974","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0135","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1212\/WNL.27.9.812","volume":"27","author":"Aminoff","year":"1977","journal-title":"Neurology"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0140","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1097\/WNP.0b013e31820510d7","article-title":"Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita","volume":"28","author":"Modoni","year":"2011","journal-title":"J. Clin. Neurophysiol."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0145","first-page":"457","article-title":"Skeletal muscle channelopathies: myotonias, periodic paralyses and malignant hyperhermia In Clinical Neurophysiology of Disorders of Muscle and Neuromuscular Junction Including Fatigue","volume":"Vol. 2","author":"Lehmann-Horn","year":"2003"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0150","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/mus.25025","article-title":"In vivo assessment of muscle membrane properties in myotonic dystrophy","volume":"54","author":"Tan","year":"2016","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0155","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/mus.880010103","article-title":"The terminal innervation pattern inpolymyositis: a histochemical and SFEMG study","volume":"1","author":"Henriksson","year":"1978","journal-title":"Muscle Nerve"},{"issue":"1","key":"10.1016\/j.clineuro.2016.08.020_bib0160","first-page":"1","article-title":"s of single fiber electromyography in patients with inflammatory myopathies","volume":"20","author":"Jian","year":"2005","journal-title":"Chin. Med. Sci. J."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0165","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1136\/jnnp.46.11.981","article-title":"The motor unit in muscular dystrophy, a single fiber EMG and scanning EMGstudy","volume":"46","author":"Hilton-Brown","year":"1983","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0170","first-page":"570","article-title":"pathogenesis of human muscular dystrophies","volume":"404","author":"Stalberg","year":"1976"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0175","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1136\/jnnp.51.7.950","article-title":"Facioscapulohumeral dystrophy: jitter in facial muscles","volume":"51","author":"Trontelj","year":"1988","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0180","first-page":"187","article-title":"Single fiber electromyography In clinical neurophysiology of disorders of muscle and neuromuscular junction. including fatigue","volume":"Vol. 2","author":"Trontelj","year":"2003"},{"key":"10.1016\/j.clineuro.2016.08.020_bib0185","first-page":"35","article-title":"Single fiber electromyography in mitochondrial diseases","volume":"44","author":"Cruz-Martinez","year":"2004","journal-title":"Electromyogr. Clin. Neurophysiol."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0190","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1136\/jnnp.53.1.49","article-title":"Jitter in the muscle fibre","volume":"53","author":"Trontelj","year":"1990","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"pt (1)","key":"10.1016\/j.clineuro.2016.08.020_bib0195","first-page":"1","article-title":"The intramuscular nerve endings in dystrophia myotonica-a biopsy study by vital staining and electron microscopy","volume":"105","author":"Allen","year":"1969","journal-title":"J. Anat."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0200","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1001\/archneur.1973.00490280027003","article-title":"Terminal innervation ratio in neuromuscular disease II disorders of lower motor neuron, peripheral nerve, and muscle","volume":"29","author":"Coers","year":"1973","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0205","series-title":"Recent Advances in Myology: Proceedings of the Third International Congress on Muscle Diseases","first-page":"132","article-title":"The neuromuscular junction in myopathies: a quantitative ultrastructural study","year":"1975"},{"issue":"3","key":"10.1016\/j.clineuro.2016.08.020_bib0210","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/j.nmd.2006.12.015","article-title":"Ribonuclear foci at the neuromuscular junction in myotonic dystrophy type 1","volume":"17","author":"Wheeler","year":"2007","journal-title":"Neuromuscul. Disord."},{"issue":"6","key":"10.1016\/j.clineuro.2016.08.020_bib0215","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1038\/nm.2374","article-title":"Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy","volume":"17","author":"Fugier","year":"2011","journal-title":"Nat. Med."},{"key":"10.1016\/j.clineuro.2016.08.020_bib0220","doi-asserted-by":"crossref","first-page":"1935","DOI":"10.1016\/j.cellsig.2008.05.005","article-title":"Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1","volume":"20","author":"Kaliman","year":"2008","journal-title":"Cell. Signal."},{"issue":"11","key":"10.1016\/j.clineuro.2016.08.020_bib0225","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1093\/hmg\/2.11.1889","article-title":"Myotonic dystrophy kinase is a component of neuromuscular junctions","volume":"2","author":"Van der Ven","year":"1993","journal-title":"Hum. Mol. Genet."}],"container-title":["Clinical Neurology and Neurosurgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846716303043?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846716303043?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,13]],"date-time":"2019-09-13T01:52:06Z","timestamp":1568339526000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0303846716303043"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":45,"alternative-id":["S0303846716303043"],"URL":"https:\/\/doi.org\/10.1016\/j.clineuro.2016.08.020","relation":{},"ISSN":["0303-8467"],"issn-type":[{"value":"0303-8467","type":"print"}],"subject":[],"published":{"date-parts":[[2016,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study","name":"articletitle","label":"Article Title"},{"value":"Clinical Neurology and Neurosurgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clineuro.2016.08.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}