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Myasthenia gravis and congenital myasthenic syndromes.
Gilhus NE. Gilhus NE. Handb Clin Neurol. 2023;195:635-652. doi: 10.1016/B978-0-323-98818-6.00010-8. Handb Clin Neurol. 2023. PMID: 37562891 Review.
Myasthenia gravis is an autoimmune disorder caused by antibodies against elements in the postsynaptic membrane at the neuromuscular junction, which leads to muscle weakness. Congenital myasthenic syndromes are rare and caused by mutations affecting pre- or po …
Myasthenia gravis is an autoimmune disorder caused by antibodies against elements in the postsynaptic membrane at the neuromuscular junction …
TOR1AIP1-Associated Nuclear Envelopathies.
Mackels L, Liu X, Bonne G, Servais L. Mackels L, et al. Int J Mol Sci. 2023 Apr 7;24(8):6911. doi: 10.3390/ijms24086911. Int J Mol Sci. 2023. PMID: 37108075 Free PMC article. Review.
The clinical spectrum of diseases related to mutations in TOR1AIP1 is broad, including muscular dystrophy, congenital myasthenic syndrome, cardiomyopathy, and multisystemic disease with or without progeroid features. ...
The clinical spectrum of diseases related to mutations in TOR1AIP1 is broad, including muscular dystrophy, congenital myasthenic
VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.
Yıldırım M, Yarenci GB, Genç MB, Uçar Çİ, Bayav S, Tekin MN, Bektaş Ö, Teber S. Yıldırım M, et al. Neuropediatrics. 2024 Jun;55(3):200-204. doi: 10.1055/s-0044-1782675. Epub 2024 Mar 26. Neuropediatrics. 2024. PMID: 38531369 Review.
Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on
Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous muta
Congenital myasthenic syndrome: a brief review.
Lorenzoni PJ, Scola RH, Kay CS, Werneck LC. Lorenzoni PJ, et al. Pediatr Neurol. 2012 Mar;46(3):141-8. doi: 10.1016/j.pediatrneurol.2011.12.001. Pediatr Neurol. 2012. PMID: 22353287 Review.
Clinical manifestations vary by congenital myasthenic syndrome subtype. Electrophysiologic, morphologic, and molecular descriptions of various forms of congenital myasthenic syndromes have led to an enhanced understanding of clinical mani …
Clinical manifestations vary by congenital myasthenic syndrome subtype. Electrophysiologic, morphologic, and molecular …
Congenital Myasthenic Syndromes in 2018.
Engel AG. Engel AG. Curr Neurol Neurosci Rep. 2018 Jun 12;18(8):46. doi: 10.1007/s11910-018-0852-4. Curr Neurol Neurosci Rep. 2018. PMID: 29892917 Review.
PURPOSE OF REVIEW: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years. ...
PURPOSE OF REVIEW: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis o …
[Neonatal myasthenic syndromes].
Koenigsberger MR, Pascual JM. Koenigsberger MR, et al. Rev Neurol. 2002 Jan 1-15;34(1):47-51. Rev Neurol. 2002. PMID: 11988891 Free article. Review. Spanish.
INTRODUCTION: In the newborn, myasthenia can present either as transient neonatal myasthenia or as a congenital syndrome. At present at least 8 syndromes involving neonatal neuromuscular junction (NMJ) malfunction have been described; one caused by the …
INTRODUCTION: In the newborn, myasthenia can present either as transient neonatal myasthenia or as a congenital syndrome. At p …
Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.
Luan X, Tian W, Cao L. Luan X, et al. Clin Neurol Neurosurg. 2016 Nov;150:41-45. doi: 10.1016/j.clineuro.2016.08.021. Epub 2016 Aug 22. Clin Neurol Neurosurg. 2016. PMID: 27588369 Review.
OBJECTIVES: To describe the clinical and genetic features of a Chinese congenital myasthenic syndromes (CMS) patient with two novel missense mutations in muscle specific receptor tyrosine kinase (MUSK) gene and review 15 MUSK-related CMS patients from 8
OBJECTIVES: To describe the clinical and genetic features of a Chinese congenital myasthenic syndromes (CMS) patient wi …
Advances and ongoing research in the treatment of autoimmune neuromuscular junction disorders.
Verschuuren JJ, Palace J, Murai H, Tannemaat MR, Kaminski HJ, Bril V. Verschuuren JJ, et al. Lancet Neurol. 2022 Feb;21(2):189-202. doi: 10.1016/S1474-4422(21)00463-4. Lancet Neurol. 2022. PMID: 35065041 Review.
Myasthenia gravis and Lambert-Eaton myasthenic syndrome are antibody-mediated autoimmune diseases of the neuromuscular junction that usually present with weakness in ocular muscles and in proximal muscles of the limb and trunk. ...
Myasthenia gravis and Lambert-Eaton myasthenic syndrome are antibody-mediated autoimmune diseases of the neuromuscular junctio …
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. ...The magnitude of treatment effect with ephedrine or salbutamol seems to increase gradually, peaking after approximately 6 to 8 m …
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness …
The glomerular basement membrane as a barrier to albumin.
Suh JH, Miner JH. Suh JH, et al. Nat Rev Nephrol. 2013 Aug;9(8):470-7. doi: 10.1038/nrneph.2013.109. Epub 2013 Jun 18. Nat Rev Nephrol. 2013. PMID: 23774818 Free PMC article. Review.
Together with findings from genetic studies in mice, the discoveries of four human mutations affecting GBM components in two inherited kidney disorders, Alport syndrome and Pierson syndrome, support essential roles for the GBM in glomerular permselectivity. ...
Together with findings from genetic studies in mice, the discoveries of four human mutations affecting GBM components in two inherited kidne …
19 results