Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1990 1
1996 1
1997 1
1998 1
2003 1
2005 3
2006 1
2009 1
2010 2
2011 2
2012 3
2013 3
2014 3
2015 4
2016 1
2017 6
2018 5
2020 2
2021 4
2022 2
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

45 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 5"
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 …
The unfolding landscape of the congenital myasthenic syndromes.
Engel AG, Shen XM, Selcen D. Engel AG, et al. Ann N Y Acad Sci. 2018 Feb;1413(1):25-34. doi: 10.1111/nyas.13539. Epub 2018 Jan 21. Ann N Y Acad Sci. 2018. PMID: 29355968 Free PMC article. Review.
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is impaired by one or more specific mechanisms. ...Here, we review the current classification of CMS and describe our findings in five o …
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmiss …
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H. McMacken G, et al. J Neurol. 2018 Jan;265(1):194-203. doi: 10.1007/s00415-017-8689-3. Epub 2017 Nov 30. J Neurol. 2018. PMID: 29189923 Free PMC article.
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. ...Most patients manifested intermittent apnoea in the first 4 months of life (74%, n = 14). A d …
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of a …
Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia.
Troha Gergeli A, Neubauer D, Golli T, Butenko T, Loboda T, Maver A, Osredkar D. Troha Gergeli A, et al. Eur J Paediatr Neurol. 2020 May;26:34-38. doi: 10.1016/j.ejpn.2020.02.002. Epub 2020 Feb 11. Eur J Paediatr Neurol. 2020. PMID: 32070632
AIM: Congenital myasthenic syndromes (CMS) are rare, genetically and phenotypically diverse disorders of neuromuscular transmission. ...Our aim was to identify the prevalence, genetic subtypes and clinical characteristics of CMS in pediatric population of Slo …
AIM: Congenital myasthenic syndromes (CMS) are rare, genetically and phenotypically diverse disorders of neuromuscular …
Current understanding of congenital myasthenic syndromes.
Engel AG, Sine SM. Engel AG, et al. Curr Opin Pharmacol. 2005 Jun;5(3):308-21. doi: 10.1016/j.coph.2004.12.007. Curr Opin Pharmacol. 2005. PMID: 15907919 Review.
Investigation of congenital myasthenic syndromes (CMSs) disclosed a diverse array of molecular targets at the motor endplate. ...Analysis of electrophysiologic and biochemical properties of mutant proteins expressed in heterologous systems contributed crucial …
Investigation of congenital myasthenic syndromes (CMSs) disclosed a diverse array of molecular targets at the motor end …
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U. Özsoy Ö, et al. Acta Neurol Belg. 2023 Dec;123(6):2325-2335. doi: 10.1007/s13760-023-02370-3. Epub 2023 Sep 1. Acta Neurol Belg. 2023. PMID: 37656362
BACKGROUND: Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic proteins and, glycosylation defects associated with congenital myopathy. ...Defects in the ace …
BACKGROUND: Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different …
Myasthenia gravis and myasthenic syndromes.
Engel AG. Engel AG. Ann Neurol. 1984 Nov;16(5):519-34. doi: 10.1002/ana.410160502. Ann Neurol. 1984. PMID: 6095730 Review.
Recognition of the autoimmune origin of acquired MG also implied that myasthenic disorders occurring in a genetic or congenital setting had a different cause. As a result, a number of congenital myasthenic syndromes have come to be recognized an …
Recognition of the autoimmune origin of acquired MG also implied that myasthenic disorders occurring in a genetic or congenital …
Developing outcome measures of disease activity in pediatric myasthenia.
Prior DE, Cooper BA, Zhang B, Ghosh PS. Prior DE, et al. Muscle Nerve. 2021 May;63(5):751-757. doi: 10.1002/mus.27208. Epub 2021 Feb 28. Muscle Nerve. 2021. PMID: 33604899
INTRODUCTION: Pediatric myasthenia encompasses juvenile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS), which are chronic disorders with fluctuating symptoms amenable to medical therapy. ...We established known-groups validity of the MGC and …
INTRODUCTION: Pediatric myasthenia encompasses juvenile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS …
Sleep in infants with congenital myasthenic syndromes.
Caggiano S, Khirani S, Verrillo E, Barnerias C, Amaddeo A, Gitiaux C, Thierry B, Desguerre I, Cutrera R, Fauroux B. Caggiano S, et al. Eur J Paediatr Neurol. 2017 Nov;21(6):842-851. doi: 10.1016/j.ejpn.2017.07.010. Epub 2017 Jul 21. Eur J Paediatr Neurol. 2017. PMID: 28755803
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. ...Three infants required ventilatory support after the polygraphy, underlining its clinical us …
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained …
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC. Lorenzoni PJ, et al. J Neurol Sci. 2013 Aug 15;331(1-2):155-7. doi: 10.1016/j.jns.2013.05.017. Epub 2013 Jun 19. J Neurol Sci. 2013. PMID: 23790237
INTRODUCTION: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, we analyzed the effect of salbutamol in …
INTRODUCTION: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement …
45 results