PubMed for Bookshelf ID: 1470846

Year	Number of Results
2005	1
2008	1
2009	1
2011	3
2012	5
2013	2
2014	6
2015	5
2016	7
2017	4
2018	9
2019	9
2020	10
2021	6
2022	1
2024	0

1

A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.

Malfatti E, Catchpool T, Nouioua S, Sihem H, Fournier E, Carlier RY, Cardone N, Davis MR, Laing NG, Sternberg D, Ravenscroft G. Malfatti E, et al. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12743. doi: 10.1111/nan.12743. Epub 2021 Jul 13. Neuropathol Appl Neurobiol. 2022. PMID: 34164833

2

Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.

Maselli RA, Wei DT, Hodgson TS, Sampson JB, Vazquez J, Smith HL, Pytel P, Ferns M. Maselli RA, et al. Muscle Nerve. 2021 Aug;64(2):219-224. doi: 10.1002/mus.27332. Epub 2021 Jun 12. Muscle Nerve. 2021. PMID: 34037996

3

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.

Bauché S, Sureau A, Sternberg D, Rendu J, Buon C, Messéant J, Boëx M, Furling D, Fauré J, Latypova X, Gelot AB, Mayer M, Mary P, Whalen S, Fournier E, Cloix I, Remerand G, Laffargue F, Nougues MC, Fontaine B, Eymard B, Isapof A, Strochlic L. Bauché S, et al. Neurol Genet. 2020 Dec 3;6(6):e534. doi: 10.1212/NXG.0000000000000534. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659639 Free PMC article.

4

Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.

Polavarapu K, Vengalil S, Preethish-Kumar V, Arunachal G, Nashi S, Mohan D, Chawla T, Bardhan M, Nandeesh B, Gupta P, Gowda VK, Lochmüller H, Nalini A. Polavarapu K, et al. Eur J Paediatr Neurol. 2021 Mar;31:54-60. doi: 10.1016/j.ejpn.2021.02.005. Epub 2021 Feb 16. Eur J Paediatr Neurol. 2021. PMID: 33631708

5

Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations.

Lamond A, Buckley D, O'Dea J, Turner L. Lamond A, et al. BMJ Case Rep. 2021 Jan 18;14(1):e237799. doi: 10.1136/bcr-2020-237799. BMJ Case Rep. 2021. PMID: 33462016 Free PMC article.

6

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.

Della Marina A, Wibbeler E, Abicht A, Kölbel H, Lochmüller H, Roos A, Schara U. Della Marina A, et al. Front Hum Neurosci. 2020 Dec 7;14:560860. doi: 10.3389/fnhum.2020.560860. eCollection 2020. Front Hum Neurosci. 2020. PMID: 33364925 Free PMC article.

7

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

8

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.

Cossins J, Webster R, Maxwell S, Rodríguez Cruz PM, Knight R, Llewelyn JG, Shin JY, Palace J, Beeson D. Cossins J, et al. Brain Commun. 2020 Oct 18;2(2):fcaa174. doi: 10.1093/braincomms/fcaa174. eCollection 2020. Brain Commun. 2020. PMID: 33215087 Free PMC article.

9

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.

10

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T, Poliakov A. Shchagina O, et al. Genes (Basel). 2020 Jul 19;11(7):821. doi: 10.3390/genes11070821. Genes (Basel). 2020. PMID: 32707643 Free PMC article.

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