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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 20"
Page 1
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.
Breathing deficits may occur at onset or more often along the chronic course of the disease. Symptoms and signs are dyspnea on minor exertion, orthopnea, nocturnal awakenings, excessive daytime sleepiness, fatigue, morning headache, poor concentration, and difficulty in cl …
Breathing deficits may occur at onset or more often along the chronic course of the disease. Symptoms and signs are dyspnea on minor …
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Rodríguez Cruz PM, Hughes I, Manzur A, Munot P, Ramdas S, Wright R, Breen C, Pitt M, Pagnamenta AT, Taylor JC, Palace J, Beeson D. Rodríguez Cruz PM, et al. Neuromuscul Disord. 2021 Jan;31(1):21-28. doi: 10.1016/j.nmd.2020.10.006. Epub 2020 Oct 20. Neuromuscul Disord. 2021. PMID: 33250374
We report 5 patients from three consanguineous families with congenital myasthenic syndrome type 20 caused by novel mutations in SLC5A7. ...This report provides three novel pathogenic variants in SLC5A7 and highlights the variability in the clinical phenotype …
We report 5 patients from three consanguineous families with congenital myasthenic syndrome type 20 caused by novel mut …
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 …
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Vlckova M, Prchalova D, Zimmermann P, Haberlova J, Bendova S, Moslerova V, Stranecky V, Sedlacek Z, Hancarova M. Vlckova M, et al. Mol Genet Genomic Med. 2023 Jun;11(6):e2154. doi: 10.1002/mgg3.2154. Epub 2023 Feb 24. Mol Genet Genomic Med. 2023. PMID: 36840359 Free PMC article.
BACKGROUND: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. ...In silico analysis of known pathogenic SLC5A7 variants showed that variants with a higher predicted …
BACKGROUND: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, pto …
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H. Mihaylova V, et al. Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7. Brain. 2008. PMID: 18180250
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. ...Typically, patients with esterase deficiency suffer from a severe, progressive weakness with onset …
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by …
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.
Grit-perseverance and passion for long-term goals-has been shown to be a significant predictor of academic success, even after controlling for other personality factors. ...Twin analyses of Grit perseverance yielded a heritability estimate of 37% (20% for consistency of in …
Grit-perseverance and passion for long-term goals-has been shown to be a significant predictor of academic success, even after contro …
Caudal epidural anesthesia for a 2-year old child with congenital myasthenia gravis.
Calişkan E, Koçum A, Sener M, Bozdoğan N, Ariboğan A. Calişkan E, et al. Agri. 2008 Oct;20(4):49-52. Agri. 2008. PMID: 19117157
The patient did not require intraoperative supplemental analgesia and postoperative course was uneventful. Specific attention should be paid to voluntary and respiratory muscle strength in myasthenia gravis patients. ...In conclusion, we think that caudal anesthetic techni …
The patient did not require intraoperative supplemental analgesia and postoperative course was uneventful. Specific attention should …
How much weight should we give to parental interests in decisions about life support for newborn infants?
Wilkinson D. Wilkinson D. Monash Bioeth Rev. 2010 Sep;20(2):13.1-25. doi: 10.1007/BF03351523. Monash Bioeth Rev. 2010. PMID: 22032020
Life-sustaining treatment is sometimes withdrawn or withheld from critically ill newborn infants with poor prognosis. Guidelines relating to such decisions place emphasis on the best interests of the infant. ...
Life-sustaining treatment is sometimes withdrawn or withheld from critically ill newborn infants with poor prognosis. Guidelines rela …