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Neurology|May 18, 2012
Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding siteXin-Ming Shen, Joan M Brengman, Simon Edvardson, et al.EMBO Reports|June 20, 2020
CTGF/CCN2 facilitates LRP4-mediated formation of the embryonic neuromuscular junctionBisei Ohkawara, Akinori Kobayakawa, Shunsuke Kanbara, et al.Neurogenetics|December 7, 2007
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian familiesTsukasa Saito, Yoshinobu Amakusa, Takashi Kimura, et al.Orphanet Journal of Rare Diseases|November 28, 2018
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic eraRachel Thompson, Angela Abicht, David Beeson, et al.Neurology|October 7, 2018
Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapyJustin C Kao, Margherita Milone, Duygu Selcen, et al.Muscle & Nerve|January 24, 2016
Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutationsTeerin Liewluck, Margherita Milone, Xia Tian, et al.Neurology|July 28, 2021
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac TransplantationShahar Shelly, Niaz Talha, Naveen L Pereira, et al.Annals of Neurology|March 24, 2005
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2HBenedikt G H Schoser, Patrick Frosk, Andrew G Engel, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|November 19, 2004
Structural abnormalities at neuromuscular synapses lacking multiple syntrophin isoformsMarvin E Adams, Neal Kramarcy, Taku Fukuda, et al.Journal of Gastrointestinal and Liver Diseases : JGLD|August 25, 2022
Examination of Abnormal Alpha-synuclein Aggregates in the Enteric Neural Plexus in Patients with Ulcerative ColitisNoriaki Gibo, Tomonari Hamaguchi, Yasuo Miki, et al.Pageof 31