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
1997 1
2010 1
2012 1
2013 1
2014 1
2018 2
2022 3
2023 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
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 …
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG. Engel AG. Handb Clin Neurol. 2018;148:565-589. doi: 10.1016/B978-0-444-64076-5.00037-5. Handb Clin Neurol. 2018. PMID: 29478601 Review.
The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. ...Targeted mutation analysis by Sanger or exome sequencing has been facilitated …
The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular trans …
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, …
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 …
Effects of Natural Products on Neuromuscular Junction.
Akkol EK, Karatoprak GŞ, Carpar E, Hussain Y, Khan H, Aschner M. Akkol EK, et al. Curr Neuropharmacol. 2022 Mar 4;20(3):594-610. doi: 10.2174/1570159X19666210924092627. Curr Neuropharmacol. 2022. PMID: 34561984 Free PMC article. Review.
The most common pathology is antibody-mediated or downregulation of ion channels or receptors, resulting in Lambert-Eaton myasthenic syndrome, myasthenia gravis, and acquired neuromyotonia (Isaac's syndrome), and rarely congenital myasthenic …
The most common pathology is antibody-mediated or downregulation of ion channels or receptors, resulting in Lambert-Eaton myasthenic …
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 …
[Myasthenia, from the internist's point of view].
Eymard B. Eymard B. Rev Med Interne. 2014 Jul;35(7):421-9. doi: 10.1016/j.revmed.2013.08.013. Epub 2013 Oct 7. Rev Med Interne. 2014. PMID: 24112993 Review. French.
The disease characteristic features are the following: ocular symptoms (ptosis or diplopia) as main initial manifestation, extension to other muscles in 80 % of the cases, variability of the deficit, effort induced worsening, successive periods of exacerbation during the disease …
The disease characteristic features are the following: ocular symptoms (ptosis or diplopia) as main initial manifestation, extension to othe …
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Laforêt P, Vianey-Saban C. Laforêt P, et al. Neuromuscul Disord. 2010 Nov;20(11):693-700. doi: 10.1016/j.nmd.2010.06.018. Epub 2010 Aug 5. Neuromuscul Disord. 2010. PMID: 20691590 Review.
A moderate lipidosis may be observed in fatty acid oxidation disorders revealed by rhabdomyolysis episodes such as carnitine palmitoyl transferase II, very-long-chain acyl-CoA dehydrogenase, mitochondrial trifunctional protein deficiencies, and in recently described phosphatidic …
A moderate lipidosis may be observed in fatty acid oxidation disorders revealed by rhabdomyolysis episodes such as carnitine palmitoyl trans …
Genes at the junction--candidates for congenital myasthenic syndromes.
Vincent A, Newland C, Croxen R, Beeson D. Vincent A, et al. Trends Neurosci. 1997 Jan;20(1):15-22. doi: 10.1016/S0166-2236(96)10066-7. Trends Neurosci. 1997. PMID: 9004414 Review.
The neuromuscular junction is the site of several myasthenic (mys, muscle; aesthenia, weakness) disorders of autoimmune and genetic origin. ...This review focuses on the rarer genetic conditions, called congenital myasthenic syndromes (CMS), that often …
The neuromuscular junction is the site of several myasthenic (mys, muscle; aesthenia, weakness) disorders of autoimmune and genetic o …
Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations.
Huh SY, Kim HS, Jang HJ, Park YE, Kim DS. Huh SY, et al. Muscle Nerve. 2012 Oct;46(4):600-4. doi: 10.1002/mus.23451. Muscle Nerve. 2012. PMID: 22987706 Review.
INTRODUCTION: Limb-girdle myasthenia with tubular aggregates (LGM with TAs) is a subtype of congenital myasthenic syndrome caused by recessive mutations of glutamine-fructose-6-phosphate transaminase 1 (GFPT1). METHODS: Clinical and neurophysiological assessm …
INTRODUCTION: Limb-girdle myasthenia with tubular aggregates (LGM with TAs) is a subtype of congenital myasthenic syndrome …