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
2000 1
2006 1
2007 1
2015 1
2016 2
2017 1
2018 3
2019 1
2022 4
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 20"
Page 1
Congenital myasthenic syndromes.
Finsterer J. Finsterer J. Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. Orphanet J Rare Dis. 2019. PMID: 30808424 Free PMC article.
OBJECTIVES: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders, which have in common an impaired neuromuscular transmission. ...
OBJECTIVES: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neurom …
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
METHODS: Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999-2019) was reviewed. RESULTS: A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of …
METHODS: Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20- …
Bedside and laboratory diagnostic testing in myasthenia.
Yoganathan K, Stevenson A, Tahir A, Sadler R, Radunovic A, Malek N. Yoganathan K, et al. J Neurol. 2022 Jun;269(6):3372-3384. doi: 10.1007/s00415-022-10986-3. Epub 2022 Feb 10. J Neurol. 2022. PMID: 35142871 Free PMC article. Review.
Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) are a group of disorders with a well characterised autoimmune or genetic and neurophysiological basis. We reviewed the literature from the last 20 years assessing the utility of various n …
Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) are a group of disorders with a well characterised aut …
Motor neuron, peripheral nerve, and neuromuscular junction disorders.
Vianello A, Racca F, Vita GL, Pierucci P, Vita G. Vianello A, et al. Handb Clin Neurol. 2022;189:259-270. doi: 10.1016/B978-0-323-91532-8.00014-8. Handb Clin Neurol. 2022. PMID: 36031308 Review.
Symptoms and signs are dyspnea on minor exertion, orthopnea, nocturnal awakenings, excessive daytime sleepiness, fatigue, morning headache, poor concentration, and difficulty in clearing bronchial secretions. The "20/30/40 rule" has been proposed to early identify GBS pati …
Symptoms and signs are dyspnea on minor exertion, orthopnea, nocturnal awakenings, excessive daytime sleepiness, fatigue, morning headache, …
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H. Krenn M, et al. J Neurol. 2023 Feb;270(2):909-916. doi: 10.1007/s00415-022-11440-0. Epub 2022 Oct 29. J Neurol. 2023. PMID: 36308527 Free PMC article.
BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. ...The majority of patients (96.4%) received specific treatment, including acetylcholinesteras …
BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resu …
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. ...The amplitudes of HR variations (bradycardia or tachycardia) were around 15-20 bpm, r …
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained …
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
Selvam P, Arunachal G, Danda S, Chapla A, Sivadasan A, Alexander M, Thomas MM, Thomas NJ. Selvam P, et al. J Clin Neuromuscul Dis. 2018 Sep;20(1):14-27. doi: 10.1097/CND.0000000000000222. J Clin Neuromuscul Dis. 2018. PMID: 30124556
OBJECTIVES: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes. ...In addition, we recommend that patients with isolated limb-gird …
OBJECTIVES: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myastheni …
How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.
Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC, Horvath R, Lochmüller H. Lorenzoni PJ, et al. Neuromolecular Med. 2018 Jun;20(2):205-214. doi: 10.1007/s12017-018-8490-1. Epub 2018 Apr 25. Neuromolecular Med. 2018. PMID: 29696584 Review.
Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases in which neuromuscular transmission is compromised. CMS resembling the Lambert-Eaton myasthenic syndrome (CMS-LEMS) are emerging as a rare group of distinct presynaptic CMS …
Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases in which neuromuscular transmission is comprom …
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D. Belaya K, et al. Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30. Brain. 2015. PMID: 26133662 Free PMC article.
Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. ...Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome …
Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscul …
A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20.
Pardal-Fernández JM, Carrascosa-Romero MC, Álvarez S, Medina-Monzón MC, Caamaño MB, de Cabo C. Pardal-Fernández JM, et al. Neuromuscul Disord. 2018 Oct;28(10):881-884. doi: 10.1016/j.nmd.2018.06.020. Epub 2018 Jul 6. Neuromuscul Disord. 2018. PMID: 30172469
Congenital myasthenic syndromes are a group of genetically determined rare diseases resulting from ultrastructural alterations in synaptic proteins. ...One of these syndromes is caused by the impairment of the presynaptic sodium-dependent high-affinity …
Congenital myasthenic syndromes are a group of genetically determined rare diseases resulting from ultrastructural alte …
16 results