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Page 1
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.
The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1. Phenotypically, these mutations manifest as abnormal fatigability or permanent or fluctuating weakness of extra-ocular, facial, bulbar, axial, respiratory, or limb muscles, hypotonia, or develop …
The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1. Phenotypically, these mutations manifest as abnormal f …
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TO …
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK …
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H. Polavarapu K, et al. Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. Brain. 2024. PMID: 37721175 Free PMC article.
Among the individual CMS genes, the most commonly affected gene was CHRNE (39.4%), followed by DOK7 (14.4%), DPAGT1 (9.8%), GFPT1 (7.6%), MUSK (6.1%), GMPPB (5.3%) and COLQ (4.5%). We identified 22 recurrent variants in this study, out of which eight were found to be geogr …
Among the individual CMS genes, the most commonly affected gene was CHRNE (39.4%), followed by DOK7 (14.4%), DPAGT1 (9.8%), GFPT1 (7. …
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grün… See abstract for full author list ➔ de Rojas I, et al. Nat Commun. 2021 Jun 7;12(1):3417. doi: 10.1038/s41467-021-22491-8. Nat Commun. 2021. PMID: 34099642 Free PMC article.
Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset …
Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in …
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.
Guan J, Zhang M, Hu C, Zhao L, Zhang L, Li X, Wang Y, Zhou S, Li W. Guan J, et al. Brain Dev. 2025 Oct;47(5):104412. doi: 10.1016/j.braindev.2025.104412. Epub 2025 Aug 5. Brain Dev. 2025. PMID: 40768883
RESULTS: Fourteen patients were enrolled in this study. The variants in CHRNE were the most prevalent (42.9 %), followed by variants in CHRNA1(21.4 %), CHRND (21.4 %), and CHRNB1 (14.3 %), respectively. ...The initial clinical feature in 6 patients with CHRNE varian …
RESULTS: Fourteen patients were enrolled in this study. The variants in CHRNE were the most prevalent (42.9 %), followed by variants …
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.
In one-half of the currently identified probands, the disease stems from mutations in genes encoding subunits of the muscle form of the acetylcholine receptor (CHRNA1, CHRNB, CHRNAD1, and CHRNE). In 10-14% of the probands the disease is caused by mutations in RAPSN, DOK 7, …
In one-half of the currently identified probands, the disease stems from mutations in genes encoding subunits of the muscle form of the acet …
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.
Della Marina A, Koutsoulidou A, Natera-de Benito D, Tykocinski LO, Tomazou M, Georgiou K, Laner A, Kölbel H, Nascimento A, Ortez C, Abicht A, Thakur BK, Lochmüller H, Phylactou LA, Ruck T, Schara-Schmidt U, Kale D, Hentschel A, Roos A. Della Marina A, et al. Acta Neuropathol Commun. 2025 Feb 13;13(1):29. doi: 10.1186/s40478-025-01946-9. Acta Neuropathol Commun. 2025. PMID: 39948634 Free PMC article.
Mutations in CHRNE encoding the epsilon subunit of acetylcholine receptor result in impaired neuromuscular transmission and congenital myasthenic syndrome (CMS) with variying severity of symptoms. ...This retrospective two-center-study includes 19 recessive CHRNE-pa …
Mutations in CHRNE encoding the epsilon subunit of acetylcholine receptor result in impaired neuromuscular transmission and congenita …
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.
Ohno K, Milone M, Shen XM, Engel AG. Ohno K, et al. Hum Mol Genet. 2003 Dec 1;12(23):3055-66. doi: 10.1093/hmg/ddg334. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532324
Inhibition of protein synthesis and of nonsense-mediated mRNA decay (NMD) by anisomycin shows that even wild-type CHRNE produces an exon 6-skipped transcript, and that even epsilon553del7-CHRNE yields a normally spliced transcript. ...In contrast, the normally splic …
Inhibition of protein synthesis and of nonsense-mediated mRNA decay (NMD) by anisomycin shows that even wild-type CHRNE produces an e …
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.
Clinically significant variants were identified in four CMS disease-causing genes: COLQ (3/7), CHRNE (2/7), DOK7 (1/7), and RAPSN (1/7). We identified two novel variants, c.930_933delCATG in DOK7 and c.1016_1032 + 2dup in CHRNE . ...Patients with COLQ variants had g …
Clinically significant variants were identified in four CMS disease-causing genes: COLQ (3/7), CHRNE (2/7), DOK7 (1/7), and RAPSN (1/ …
Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.
Huang K, Luo YB, Bi FF, Yang H. Huang K, et al. Curr Neuropharmacol. 2021;19(5):718-729. doi: 10.2174/1570159X18666200729092332. Curr Neuropharmacol. 2021. PMID: 32727330 Free PMC article.
Mutations of the nicotinic acetylcholine receptor epsilon subunit gene (CHRNE) are the most common causes of these disorders. CMSs are gaining increasing recognition by clinicians. However, pharmacological treatment of CMS with CHRNE mutations has only been discusse …
Mutations of the nicotinic acetylcholine receptor epsilon subunit gene (CHRNE) are the most common causes of these disorders. CMSs ar …
76 results