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
2005 2
2011 1
2014 1
2015 1
2016 1
2017 1
2018 1
2019 1
2020 1
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 16"
Page 1
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 …
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 …
Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.
Witting N, Vissing J. Witting N, et al. JAMA Neurol. 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. JAMA Neurol. 2014. PMID: 24425145 Review.
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness. ...EVIDENCE REVIEW: In a search of the PubMed database, we found 16 publications describing the response to medication in 122 indiv …
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness …
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 …
A pilot study of an integrated, personalized, respiratory and motor telerehabilitation program for pediatric patients with hereditary neuromuscular disorders.
Yu MKL, Chiu AYY, Chau SK, Rosa Duque JS, Wong WHS, Chan SHS. Yu MKL, et al. Muscle Nerve. 2023 Nov;68(6):857-864. doi: 10.1002/mus.27982. Epub 2023 Oct 14. Muscle Nerve. 2023. PMID: 37837303
The secondary outcomes were study compliance and user feedback. RESULTS: Patients with spinal muscular atrophy (n = 4), congenital myasthenic syndrome (n = 2), and Duchenne muscular dystrophy (n = 2) completed the program. ...Patients also reported improvemen …
The secondary outcomes were study compliance and user feedback. RESULTS: Patients with spinal muscular atrophy (n = 4), congenital …
True grit and genetics: Predicting academic achievement from personality.
Rimfeld K, Kovas Y, Dale PS, Plomin R. Rimfeld K, et al. J Pers Soc Psychol. 2016 Nov;111(5):780-789. doi: 10.1037/pspp0000089. Epub 2016 Feb 11. J Pers Soc Psychol. 2016. PMID: 26867111 Free PMC article.
For 4,642 16-year-olds (2,321 twin pairs), we used the Grit-S scale (perseverance of effort and consistency of interest), along with the Big Five personality traits, to predict grades on the General Certificate of Secondary Education (GCSE) exams, which are administ …
For 4,642 16-year-olds (2,321 twin pairs), we used the Grit-S scale (perseverance of effort and consistency of interest), along with …
Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.
Hentschel A, Czech A, Münchberg U, Freier E, Schara-Schmidt U, Sickmann A, Reimann J, Roos A. Hentschel A, et al. Orphanet J Rare Dis. 2021 Feb 9;16(1):73. doi: 10.1186/s13023-020-01669-1. Orphanet J Rare Dis. 2021. PMID: 33563298 Free PMC article.
RESULTS: To systematically address the question if human skin fibroblasts might serve as valuable biomaterial for (molecular) studies of NMD, we generated a protein library cataloguing 8280 proteins including a variety of such linked to genetic forms of motoneuron diseases, co …
RESULTS: To systematically address the question if human skin fibroblasts might serve as valuable biomaterial for (molecular) studies of NMD …
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.
Rahman MA, Azuma Y, Nasrin F, Takeda J, Nazim M, Bin Ahsan K, Masuda A, Engel AG, Ohno K. Rahman MA, et al. Sci Rep. 2015 Aug 18;5:13208. doi: 10.1038/srep13208. Sci Rep. 2015. PMID: 26282582 Free PMC article.
Mutations in COLQ cause endplate AChE deficiency. An A-to-G mutation predicting p.E415G in COLQ exon 16 identified in a patient with endplate AChE deficiency causes exclusive skipping of exon 16. ...MS2-mediated artificial tethering of each factor demonstrate …
Mutations in COLQ cause endplate AChE deficiency. An A-to-G mutation predicting p.E415G in COLQ exon 16 identified in a patien …
A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.
Shen XM, Di L, Shen S, Zhao Y, Neumeyer AM, Selcen D, Sine SM, Engel AG. Shen XM, et al. Exp Neurol. 2020 Sep;331:113375. doi: 10.1016/j.expneurol.2020.113375. Epub 2020 Jun 3. Exp Neurol. 2020. PMID: 32504635 Free PMC article.
Genetic variants causing the fast-channel congenital myasthenic syndrome (CMS) have been identified in the alpha, delta, and epsilon but not the beta subunit of acetylcholine receptor (AChR). A 16-year-old girl with severe myasthenia had low-amplitude …
Genetic variants causing the fast-channel congenital myasthenic syndrome (CMS) have been identified in the alpha, delta …
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
Shen XM, Crawford TO, Brengman J, Acsadi G, Iannaconne S, Karaca E, Khoury C, Mah JK, Edvardson S, Bajzer Z, Rodgers D, Engel AG. Shen XM, et al. Hum Mutat. 2011 Nov;32(11):1259-67. doi: 10.1002/humu.21560. Epub 2011 Sep 23. Hum Mutat. 2011. PMID: 21786365 Free PMC article.
Choline acetyltransferase (ChAT; EC 2.3.1.6) catalyzes synthesis of acetylcholine from acetyl-CoA (AcCoA) and choline in cholinergic neurons. Mutations in CHAT cause potentially lethal congenital myasthenic syndromes associated with episodic apnea (ChAT-CMS). …
Choline acetyltransferase (ChAT; EC 2.3.1.6) catalyzes synthesis of acetylcholine from acetyl-CoA (AcCoA) and choline in cholinergic neurons …
12 results