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
1992 1
2006 1
2007 1
2010 1
2011 2
2012 3
2013 3
2014 2
2015 3
2016 1
2017 1
2018 1
2019 2
2020 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

19 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 15"
Page 1
Myasthenia Gravis and Congenital Myasthenic Syndromes.
Ciafaloni E. Ciafaloni E. Continuum (Minneap Minn). 2019 Dec;25(6):1767-1784. doi: 10.1212/CON.0000000000000800. Continuum (Minneap Minn). 2019. PMID: 31794470 Review.
Special consideration related to the diagnosis and management in women during pregnancy and in children will also be reviewed. This article also includes an overview of congenital myasthenic syndromes. RECENT FINDINGS: Recent significant efforts in standardiz …
Special consideration related to the diagnosis and management in women during pregnancy and in children will also be reviewed. This article …
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. Since the field of CMSs is steadily expanding, the present r …
OBJECTIVES: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neurom …
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY. Tsao CY. Pediatr Neurol. 2016 Jan;54:85-7. doi: 10.1016/j.pediatrneurol.2015.09.019. Epub 2015 Nov 6. Pediatr Neurol. 2016. PMID: 26552645 Review.
CONCLUSION: DOK7 congenital myasthenic syndrome often presents with limb-girdle muscle weakness, which can become progressive without proper treatment. If muscle biopsy reveals no obvious etiology, an expanded neuromuscular gene panel may lead to a specific d …
CONCLUSION: DOK7 congenital myasthenic syndrome often presents with limb-girdle muscle weakness, which can become progr …
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
Hesami O, Ramezani M, Ghasemi A, Fatehi F, Okhovat AA, Ziaadini B, Kariminejad A, Nafissi S. Hesami O, et al. Orphanet J Rare Dis. 2024 Mar 12;19(1):113. doi: 10.1186/s13023-024-03116-x. Orphanet J Rare Dis. 2024. PMID: 38475910 Free PMC article.
BACKGROUND: Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive …
BACKGROUND: Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transm …
A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan.
Hamasaki Y, Hamada R, Muramatsu M, Matsumoto S, Aya K, Ishikura K, Kaneko T, Iijima K. Hamasaki Y, et al. BMC Nephrol. 2020 Aug 24;21(1):363. doi: 10.1186/s12882-020-02010-5. BMC Nephrol. 2020. PMID: 32838745 Free PMC article.
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. ...The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-typ …
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and …
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. ...Signs of impaired neuromuscular transmission were detected on neurophysiology studies in 79% …
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of a …
Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.
McMacken G, Whittaker RG, Wake R, Lochmuller H, Horvath R. McMacken G, et al. J Neurol. 2023 Jun;270(6):3112-3119. doi: 10.1007/s00415-023-11643-z. Epub 2023 Mar 4. J Neurol. 2023. PMID: 36869887 Free PMC article.
Several recently identified genes highlight the overlap between peripheral neuropathies and congenital myasthenic syndromes (CMS). The beta-2 adrenergic receptor agonist salbutamol has been shown to provide symptomatic benefit in CMS, while improving structur …
Several recently identified genes highlight the overlap between peripheral neuropathies and congenital myasthenic syndromes …
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H. Chaouch A, et al. J Neurol. 2012 Mar;259(3):474-81. doi: 10.1007/s00415-011-6204-9. Epub 2011 Aug 7. J Neurol. 2012. PMID: 21822932
Slow-channel congenital myasthenic syndrome (CMS) is a rare subtype of CMS caused by dominant "gain of function" mutations in the acetylcholine receptor. ...We carried out a retrospective clinical follow up study of 15 slow-channel CMS patients …
Slow-channel congenital myasthenic syndrome (CMS) is a rare subtype of CMS caused by dominant "gain of function" mutati …
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
Lashley D, Palace J, Jayawant S, Robb S, Beeson D. Lashley D, et al. Neurology. 2010 May 11;74(19):1517-23. doi: 10.1212/WNL.0b013e3181dd43bf. Neurology. 2010. PMID: 20458068 Free PMC article. Clinical Trial.
BACKGROUND: Mutations in the postsynaptic adaptor protein Dok-7 underlie congenital myasthenic syndrome (CMS) with a characteristic limb girdle pattern of muscle weakness. ...CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that ephedrine giv …
BACKGROUND: Mutations in the postsynaptic adaptor protein Dok-7 underlie congenital myasthenic syndrome (CMS) with a ch …
Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis.
Ohno K, Ito M, Kawakami Y, Ohtsuka K. Ohno K, et al. J Mol Neurosci. 2014 Jul;53(3):359-61. doi: 10.1007/s12031-013-0170-x. J Mol Neurosci. 2014. PMID: 24234034 Review.
We exploited the proprietary NMJ-targeting signals of ColQ to treat congenital myasthenia and to explore the mechanisms of autoimmune myasthenia gravis (MG). ...Elucidation of molecular mechanisms of specific binding of ColQ to NMJ enabled us to ameliorate devastating m …
We exploited the proprietary NMJ-targeting signals of ColQ to treat congenital myasthenia and to explore the mechanisms of autoimmune …
19 results