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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 13"
Page 1
Congenital myasthenic syndrome in China: genetic and myopathological characterization.
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y. Zhao Y, et al. Ann Clin Transl Neurol. 2021 Apr;8(4):898-907. doi: 10.1002/acn3.51346. Epub 2021 Mar 23. Ann Clin Transl Neurol. 2021. PMID: 33756069 Free PMC article.
OBJECTIVE: We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes. ...Based on the follow-up findings, we suggest cautious evaluation …
OBJECTIVE: We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital …
Posterior Segment Characterization in Children With Pierson Syndrome.
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM. AlTaisan A, et al. Ophthalmic Surg Lasers Imaging Retina. 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. Ophthalmic Surg Lasers Imaging Retina. 2020. PMID: 33231694
BACKGROUND AND OBJECTIVE: Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in association with microcoria. The authors aim to describe the posterior segment and retinal features in Pierson syndrome. PATIENTS AND METHO …
BACKGROUND AND OBJECTIVE: Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in associ …
Incidence and Ocular Features of Pediatric Myasthenias.
Mansukhani SA, Bothun ED, Diehl NN, Mohney BG. Mansukhani SA, et al. Am J Ophthalmol. 2019 Apr;200:242-249. doi: 10.1016/j.ajo.2019.01.004. Epub 2019 Jan 14. Am J Ophthalmol. 2019. PMID: 30653958 Free PMC article.
RESULTS: A total of 364 children were evaluated during the study period, of which 6 children were residents of the Olmsted County at the time of their diagnosis, yielding an annual age- and sex-adjusted incidence of 0.35 per 100 000 <19 years, or 1 in 285 714 <19 years. The …
RESULTS: A total of 364 children were evaluated during the study period, of which 6 children were residents of the Olmsted County at the tim …
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.
Hyde LF, Kong Y, Zhao L, Rao SR, Wang J, Stone L, Njaa A, Collin GB, Krebs MP, Chang B, Fliesler SJ, Nishina PM, Naggert JK. Hyde LF, et al. Int J Mol Sci. 2022 Oct 9;23(19):12005. doi: 10.3390/ijms231912005. Int J Mol Sci. 2022. PMID: 36233305 Free PMC article.
These changes were associated with the induction of photoreceptor apoptosis in tvrm76 retinas. Mutations in human DPAGT1 cause myasthenic syndrome-13 and severe forms of a congenital disorder of glycosylation Type Ij. In contrast, Dpagt1(tvrm76) homozygous mi …
These changes were associated with the induction of photoreceptor apoptosis in tvrm76 retinas. Mutations in human DPAGT1 cause myasthenic …
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ, Kim SY, Lee JS, Kang S, Park LJ, Choi W, Jung JY, Kim T, Park SS, Ko JM, Seong MW, Chae JH. Kim MJ, et al. Ann Lab Med. 2023 May 1;43(3):280-289. doi: 10.3343/alm.2023.43.3.280. Epub 2022 Dec 22. Ann Lab Med. 2023. PMID: 36544340 Free PMC article.
Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical issues, must be considered. ...RESULTS: In prospective clinical validation, 13.5% patients presented with medi …
Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multip …
Clinical course of growth in patients with congenital neuromuscular disease in a single multidisciplinary neuromuscular clinic.
Watne L, Yang ML. Watne L, et al. J Pediatr Rehabil Med. 2016;9(1):13-21. doi: 10.3233/PRM-160357. J Pediatr Rehabil Med. 2016. PMID: 26966796
OBJECTIVE: To assess the effect of nutritional interventions on growth and on respiratory status in patients with congenital myopathy (CM), congenital muscular dystrophy (CMD), and congenital myasthenic syndrome (CMS). ...CONCLUSIONS: This is a …
OBJECTIVE: To assess the effect of nutritional interventions on growth and on respiratory status in patients with congenital myopathy …
Splicing abnormalities in congenital myasthenic syndromes.
Ohno K, Engel AG. Ohno K, et al. Acta Myol. 2005 Oct;24(2):50-4. Acta Myol. 2005. PMID: 16550914 Review.
A total of 173 mutations has been reported to date in eight genes in congenital myasthenic syndromes. Sixteen intronic and five exonic mutations in three genes affect pre-mRNA splicing. ...Analysis of a series of artificial mutants conforms to the scanning mo …
A total of 173 mutations has been reported to date in eight genes in congenital myasthenic syndromes. Sixteen intronic …
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
Selcen D, Ohkawara B, Shen XM, McEvoy K, Ohno K, Engel AG. Selcen D, et al. JAMA Neurol. 2015 Aug;72(8):889-96. doi: 10.1001/jamaneurol.2015.0853. JAMA Neurol. 2015. PMID: 26052878 Free PMC article.
IMPORTANCE: Congenital myasthenic syndromes (CMS) are heterogeneous disorders. Defining the phenotypic features, genetic basis, and pathomechanisms of a CMS is relevant to prognosis, genetic counseling, and therapy. ...
IMPORTANCE: Congenital myasthenic syndromes (CMS) are heterogeneous disorders. Defining the phenotypic features, geneti …
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H. Abicht A, et al. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268
Mutations in its gene may cause congenital myasthenic syndromes. A recently described mutation in exon 12 of the AChR epsilon subunit (epsilon1267delG) disrupts the cytoplasmic loop and the fourth transmembrane region (M4) of the AChR epsilon subunit. ...CONC …
Mutations in its gene may cause congenital myasthenic syndromes. A recently described mutation in exon 12 of the AChR e …
12 results