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Page 1
Complexities of the glomerular basement membrane.
Naylor RW, Morais MRPT, Lennon R. Naylor RW, et al. Nat Rev Nephrol. 2021 Feb;17(2):112-127. doi: 10.1038/s41581-020-0329-y. Epub 2020 Aug 24. Nat Rev Nephrol. 2021. PMID: 32839582 Review.
Defects in GBM components are associated with a range of hereditary human diseases such as Alport syndrome, which is caused by defects in the genes COL4A3, COL4A4 and COL4A5, and Pierson syndrome, which is caused by variants in LAMB2. ...
Defects in GBM components are associated with a range of hereditary human diseases such as Alport syndrome, which is caused by defect …
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B. Hantaï D, et al. Curr Opin Neurol. 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. Curr Opin Neurol. 2004. PMID: 15367858 Review.
In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined. ...Fluoxetine has …
In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent adv …
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 …
Primary periodic paralyses.
Finsterer J. Finsterer J. Acta Neurol Scand. 2008 Mar;117(3):145-58. doi: 10.1111/j.1600-0404.2007.00963.x. Epub 2007 Nov 20. Acta Neurol Scand. 2008. PMID: 18031562 Review.
Primary PPs include entities such as hyperkalemic PP, hypokalemic PP, paramyotonia congenita von Eulenburg, Andersen's syndrome, thyrotoxic PP, distal renal tubular acidosis, X-linked episodic muscle weakness syndrome and congenital myasthenic syndr …
Primary PPs include entities such as hyperkalemic PP, hypokalemic PP, paramyotonia congenita von Eulenburg, Andersen's syndrome, thyr …
[Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review].
Li WH, Wu BB, Zhou SZ. Li WH, et al. Zhonghua Er Ke Za Zhi. 2021 Jan 2;59(1):42-46. doi: 10.3760/cma.j.cn112140-20200730-00767. Zhonghua Er Ke Za Zhi. 2021. PMID: 33397003 Review. Chinese.
Objective: To investigate the clinical characteristics and genetic features of congenital myasthenic syndrome (CMS) related to SLC25A1 gene variant. ...The clinical characteristics and genetic features of congenital myasthenic syndrome re …
Objective: To investigate the clinical characteristics and genetic features of congenital myasthenic syndrome (CMS) rel …
Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.
Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJ, Verschuuren JJ. Vrinten C, et al. Cochrane Database Syst Rev. 2014 Dec 17;2014(12):CD010028. doi: 10.1002/14651858.CD010028.pub2. Cochrane Database Syst Rev. 2014. PMID: 25515947 Free PMC article. Review.
BACKGROUND: Myasthenia is a condition in which neuromuscular transmission is affected by antibodies against neuromuscular junction components (autoimmune myasthenia gravis, MG; and neonatal myasthenia gravis, NMG) or by defects in genes for neuromuscular junction proteins (con …
BACKGROUND: Myasthenia is a condition in which neuromuscular transmission is affected by antibodies against neuromuscular junction component …
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.
Milhem RM, Ali BR. Milhem RM, et al. Mol Med. 2019 Dec 31;26(1):4. doi: 10.1186/s10020-019-0129-7. Mol Med. 2019. PMID: 31892318 Free PMC article. Review.
Mutations in FZ-CRD of Frizzled class receptor 4 (FZD4) and Muscle, skeletal, receptor tyrosine kinase (MuSK) and Receptor tyrosine kinase-like orphan receptor 2 (ROR2) cause Familial Exudative Vitreoretinopathy (FEVR), Congenital Myasthenic Syndrome (CMS), a …
Mutations in FZ-CRD of Frizzled class receptor 4 (FZD4) and Muscle, skeletal, receptor tyrosine kinase (MuSK) and Receptor tyrosine kinase-l …
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Mishra S, Nair KV, Shukla A. Mishra S, et al. Clin Dysmorphol. 2023 Oct 1;32(4):162-167. doi: 10.1097/MCD.0000000000000465. Epub 2023 Jun 19. Clin Dysmorphol. 2023. PMID: 37646703 Review.
Congenital myasthenic syndromes (CMS) are rare, heterogeneous, and often treatable genetic disorders depending on the underlying molecular defect. ...
Congenital myasthenic syndromes (CMS) are rare, heterogeneous, and often treatable genetic disorders depending on the u …
LRP4 site-specific variants in the third beta-propeller domain causes congenital myasthenic syndrome type 17.
Al Jabry T, Al-Hashmi N, Abdelhadi B, Al-Maawali A. Al Jabry T, et al. Eur J Med Genet. 2024 Feb;67:104903. doi: 10.1016/j.ejmg.2023.104903. Epub 2023 Dec 13. Eur J Med Genet. 2024. PMID: 38101565 Free article. Review.
Pathogenic variants of LRP4 that specifically affect the canonical WNT signaling pathway are known to be associated with Cenani-Lenz syndactyly syndrome or the overlapping condition sclerosteosis. However, site-specific pathogenic variants of LRP4 have been associated with …
Pathogenic variants of LRP4 that specifically affect the canonical WNT signaling pathway are known to be associated with Cenani-Lenz syndact …
AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A Pediatric Case Report and Literature Review.
Gan S, Yang H, Xiao T, Pan Z, Wu L. Gan S, et al. Neuropediatrics. 2020 Oct;51(5):364-367. doi: 10.1055/s-0040-1708534. Epub 2020 Mar 28. Neuropediatrics. 2020. PMID: 32221959 Review.
The congenital myasthenia syndromes (CMS) are a group of autosomal recessive or autosomal dominant diseases that affect neuromuscular junctions. ...Repeated nerve stimulation at 3 Hz showed a clear decrement with 17%. Whole exon sequencing showed an AGRN gene …
The congenital myasthenia syndromes (CMS) are a group of autosomal recessive or autosomal dominant diseases that affect neurom …