These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
193 related articles for article (PubMed ID: 38233267)
1. Calcitriol ameliorates motor deficits and prolongs survival of Chrne-deficient mouse, a model for congenital myasthenic syndrome, by inducing Rspo2. Ohkawara B; Tomita H; Inoue T; Zhang S; Kanbara S; Koshimizu H; Miyasaka Y; Takeda JI; Nishiwaki H; Nakashima H; Ito M; Masuda A; Ishiguro N; Ogi T; Ohno T; Imagama S; Ohno K Neurotherapeutics; 2024 Mar; 21(2):e00318. PubMed ID: 38233267 [TBL] [Abstract][Full Text] [Related]
2. R-spondin 2 promotes acetylcholine receptor clustering at the neuromuscular junction via Lgr5. Nakashima H; Ohkawara B; Ishigaki S; Fukudome T; Ito K; Tsushima M; Konishi H; Okuno T; Yoshimura T; Ito M; Masuda A; Sobue G; Kiyama H; Ishiguro N; Ohno K Sci Rep; 2016 Jun; 6():28512. PubMed ID: 27328992 [TBL] [Abstract][Full Text] [Related]
3. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Müller JS; Baumeister SK; Schara U; Cossins J; Krause S; von der Hagen M; Huebner A; Webster R; Beeson D; Lochmüller H; Abicht A Brain; 2006 Oct; 129(Pt 10):2784-93. PubMed ID: 16916845 [TBL] [Abstract][Full Text] [Related]
4. Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders. Clausen L; Cossins J; Beeson D J Neuromuscul Dis; 2018; 5(2):231-240. PubMed ID: 29865088 [TBL] [Abstract][Full Text] [Related]
5. Zonisamide upregulates neuregulin-1 expression and enhances acetylcholine receptor clustering at the in vitro neuromuscular junction. Inoue T; Ohkawara B; Bushra S; Kanbara S; Nakashima H; Koshimizu H; Tomita H; Ito M; Masuda A; Ishiguro N; Imagama S; Ohno K Neuropharmacology; 2021 Sep; 195():108637. PubMed ID: 34097946 [TBL] [Abstract][Full Text] [Related]
6. Dok-7/MuSK signaling and a congenital myasthenic syndrome. Yamanashi Y; Higuch O; Beeson D Acta Myol; 2008 Jul; 27(1):25-9. PubMed ID: 19108574 [TBL] [Abstract][Full Text] [Related]
7. Congenital myasthenic syndromes and the formation of the neuromuscular junction. Beeson D; Webster R; Cossins J; Lashley D; Spearman H; Maxwell S; Slater CR; Newsom-Davis J; Palace J; Vincent A Ann N Y Acad Sci; 2008; 1132():99-103. PubMed ID: 18567858 [TBL] [Abstract][Full Text] [Related]
8. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. Logan CV; Cossins J; Rodríguez Cruz PM; Parry DA; Maxwell S; Martínez-Martínez P; Riepsaame J; Abdelhamed ZA; Lake AV; Moran M; Robb S; Chow G; Sewry C; Hopkins PM; Sheridan E; Jayawant S; Palace J; Johnson CA; Beeson D Am J Hum Genet; 2015 Dec; 97(6):878-85. PubMed ID: 26626625 [TBL] [Abstract][Full Text] [Related]
9. Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation. Xing G; Jing H; Yu Z; Chen P; Wang H; Xiong WC; Mei L Neuron; 2021 Jun; 109(12):1963-1978.e5. PubMed ID: 34033754 [TBL] [Abstract][Full Text] [Related]
10. Differential effects of spinal motor neuron-derived and skeletal muscle-derived Rspo2 on acetylcholine receptor clustering at the neuromuscular junction. Li J; Ito M; Ohkawara B; Masuda A; Ohno K Sci Rep; 2018 Sep; 8(1):13577. PubMed ID: 30206360 [TBL] [Abstract][Full Text] [Related]
11. A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells. Zhang S; Ohkawara B; Ito M; Huang Z; Zhao F; Nakata T; Takeuchi T; Sakurai H; Komaki H; Kamon M; Araki T; Ohno K Hum Mol Genet; 2023 Apr; 32(9):1511-1523. PubMed ID: 36579833 [TBL] [Abstract][Full Text] [Related]
12. Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure. Rodríguez Cruz PM; Cossins J; Cheung J; Maxwell S; Jayawant S; Herbst R; Waithe D; Kornev AP; Palace J; Beeson D Hum Mutat; 2020 Mar; 41(3):619-631. PubMed ID: 31765060 [TBL] [Abstract][Full Text] [Related]
13. Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters. Ito K; Ohkawara B; Yagi H; Nakashima H; Tsushima M; Ota K; Konishi H; Masuda A; Imagama S; Kiyama H; Ishiguro N; Ohno K Sci Rep; 2018 Jan; 8(1):434. PubMed ID: 29323161 [TBL] [Abstract][Full Text] [Related]
14. [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]. Chevessier F; Faraut B; Ravel-Chapuis A; Richard P; Gaudon K; Bauché S; Prioleau C; Herbst R; Goillot E; Ioos C; Azulay JP; Attarian S; Leroy JP; Fournier E; Legay C; Schaeffer L; Koenig J; Fardeau M; Eymard B; Pouget J; Hantaï D J Soc Biol; 2005; 199(1):61-77. PubMed ID: 16114265 [TBL] [Abstract][Full Text] [Related]
16. Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. Sieb JP; Kraner S; Rauch M; Steinlein OK Hum Genet; 2000 Aug; 107(2):160-4. PubMed ID: 11030414 [TBL] [Abstract][Full Text] [Related]
17. End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations. Croxen R; Young C; Slater C; Haslam S; Brydson M; Vincent A; Beeson D Brain; 2001 Jul; 124(Pt 7):1362-72. PubMed ID: 11408331 [TBL] [Abstract][Full Text] [Related]
18. Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis. Ohno K; Ito M; Kawakami Y; Krejci E; Engel AG Chem Biol Interact; 2013 Mar; 203(1):335-40. PubMed ID: 22981737 [TBL] [Abstract][Full Text] [Related]
19. Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports. Huang K; Luo YB; Bi FF; Yang H Curr Neuropharmacol; 2021; 19(5):718-729. PubMed ID: 32727330 [TBL] [Abstract][Full Text] [Related]
20. Genetic basis and phenotypic features of congenital myasthenic syndromes. Engel AG Handb Clin Neurol; 2018; 148():565-589. PubMed ID: 29478601 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]