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Items: 1 to 20 of 107

1.

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST.

Neurology. 2016 Oct 4;87(14):1442-1448. Epub 2016 Sep 2.

2.

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Aran A, Segel R, Kaneshige K, Gulsuner S, Renbaum P, Oliphant S, Meirson T, Weinberg-Shukron A, Hershkovitz Y, Zeligson S, Lee MK, Samson AO, Parsons SM, King MC, Levy-Lahad E, Walsh T.

Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10.

3.

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Schwartz M, Sternberg D, Whalen S, Afenjar A, Isapof A, Chabrol B, Portnoï MF, Heide S, Keren B, Chantot-Bastaraud S, Siffroi JP.

Am J Med Genet A. 2018 Jan;176(1):151-155. doi: 10.1002/ajmg.a.38515. Epub 2017 Nov 12.

PMID:
29130637
4.

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.

Hakonen AH, Polvi A, Saloranta C, Paetau A, Heikkilä P, Almusa H, Ellonen P, Jakkula E, Saarela J, Aittomäki K.

Am J Med Genet A. 2019 Jul;179(7):1362-1365. doi: 10.1002/ajmg.a.61186. Epub 2019 May 6.

PMID:
31059209
5.

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

O'Connor E, Töpf A, Müller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmüller H.

Brain. 2016 Aug;139(Pt 8):2143-53. doi: 10.1093/brain/aww130. Epub 2016 Jun 3.

6.

Fast and slow-twitching muscles are differentially affected by reduced cholinergic transmission in mice deficient for VAChT: A mouse model for congenital myasthenia.

Magalhães-Gomes MPS, Motta-Santos D, Schetino LPL, Andrade JN, Bastos CP, Guimarães DAS, Vaughan SK, Martinelli PM, Guatimosim S, Pereira GS, Coimbra CC, Prado VF, Prado MAM, Valdez G, Guatimosim C.

Neurochem Int. 2018 Nov;120:1-12. doi: 10.1016/j.neuint.2018.07.002. Epub 2018 Jul 9.

7.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

PMID:
24951643
8.

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.

Banwell BL, Ohno K, Sieb JP, Engel AG.

Neuromuscul Disord. 2004 Mar;14(3):202-7.

PMID:
15036330
9.

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.

Rodríguez Cruz PM, Palace J, Beeson D.

Int J Mol Sci. 2018 Jun 5;19(6). pii: E1677. doi: 10.3390/ijms19061677. Review.

10.

Congenital myasthenic syndromes.

Hantaï D, Richard P, Koenig J, Eymard B.

Curr Opin Neurol. 2004 Oct;17(5):539-51. Review.

PMID:
15367858
11.

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium, Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D.

Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11.

12.

Congenital Myasthenic Syndromes in 2018.

Engel AG.

Curr Neurol Neurosci Rep. 2018 Jun 12;18(8):46. doi: 10.1007/s11910-018-0852-4. Review.

PMID:
29892917
13.

Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.

Tsao CY.

Pediatr Neurol. 2016 Jan;54:85-7. doi: 10.1016/j.pediatrneurol.2015.09.019. Epub 2015 Nov 6. Review.

PMID:
26552645
14.

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death.

Byring RF, Pihko H, Tsujino A, Shen XM, Gustafsson B, Hackman P, Ohno K, Engel AG, Udd B.

Neuromuscul Disord. 2002 Aug;12(6):548-53.

PMID:
12117478
15.

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].

Andreux F, Hantaï D, Eymard B.

Rev Neurol (Paris). 2004 Feb;160(2):163-76. Review. French.

PMID:
15034473
16.

Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.

Tan JS, Ambang T, Ahmad-Annuar A, Rajahram GS, Wong KT, Goh KJ.

Muscle Nerve. 2016 May;53(5):822-6. doi: 10.1002/mus.25037. Epub 2016 Mar 23.

PMID:
26789281
17.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

Yiş U, Becker K, Kurul SH, Uyanik G, Bayram E, Haliloğlu G, Polat Aİ, Ayanoğlu M, Okur D, Tosun AF, Serdaroğlu G, Yilmaz S, Topaloğlu H, Anlar B, Cirak S, Engel AG.

J Child Neurol. 2017 Jul;32(8):759-765. doi: 10.1177/0883073817705252. Epub 2017 May 3.

18.

[Congenital myasthenic syndromes. Clinical and electromyographic evaluation].

Martin Santidrian MA, Prats Viñas JM, Garaizar Axpe C, Ruiz Espinosa C.

An Esp Pediatr. 2002 Jan;56(1):10-6. Spanish.

PMID:
11792263
19.

Congenital Myasthenic Syndromes.

Abicht A, Müller J S, Lochmüller H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 May 9 [updated 2016 Jul 14].

20.

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr, Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E.

J Neurol. 2018 Mar;265(3):708-713. doi: 10.1007/s00415-018-8736-8. Epub 2018 Jan 30.

PMID:
29383513

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