155 related articles for article (PubMed ID: 34971077)
1. The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Katata Y; Uneoka S; Saijyo N; Aihara Y; Miyazoe T; Koyamaishi S; Oikawa Y; Ito Y; Abe Y; Numata-Uematsu Y; Takayama J; Kikuchi A; Tamiya G; Uematsu M; Kure S
Am J Med Genet A; 2022 Apr; 188(4):1293-1298. PubMed ID: 34971077
[TBL] [Abstract][Full Text] [Related]
2. 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; ; Donnelly P; Bentley D; McGowan SJ; Müller J; Palace J; Lochmüller H; Beeson D
Brain; 2013 Mar; 136(Pt 3):944-56. PubMed ID: 23404334
[TBL] [Abstract][Full Text] [Related]
3. Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN.
Saito M; Ogasawara M; Inaba Y; Osawa Y; Nishioka M; Yamauchi S; Atsumi K; Takeuchi S; Imai K; Motobayashi M; Misawa Y; Iida A; Nishino I
Brain Dev; 2022 Jan; 44(1):50-55. PubMed ID: 34565654
[TBL] [Abstract][Full Text] [Related]
4. [Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].
Liu ZM; Fang F; Ding CH; Zhang WH; Deng J; Chen CH; Wang X; Liu J; Li Z; Jia XL; Zeng JS; Qian SY
Zhonghua Er Ke Za Zhi; 2018 Mar; 56(3):216-220. PubMed ID: 29518833
[No Abstract] [Full Text] [Related]
5. A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome.
Chan C; Emery L; Maltese C; Kumar A; Aliu E; Naik S; Paul D
Child Neurol Open; 2023; 10():2329048X231216432. PubMed ID: 38034490
[TBL] [Abstract][Full Text] [Related]
6. Congenital Myasthenic Syndromes in 2018.
Engel AG
Curr Neurol Neurosci Rep; 2018 Jun; 18(8):46. PubMed ID: 29892917
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24951643
[TBL] [Abstract][Full Text] [Related]
8. Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Gallenmüller C; Müller-Felber W; Dusl M; Stucka R; Guergueltcheva V; Blaschek A; von der Hagen M; Huebner A; Müller JS; Lochmüller H; Abicht A
Neuromuscul Disord; 2014 Jan; 24(1):31-5. PubMed ID: 24183479
[TBL] [Abstract][Full Text] [Related]
9. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Belaya K; Rodríguez Cruz PM; Liu WW; Maxwell S; McGowan S; Farrugia ME; Petty R; Walls TJ; Sedghi M; Basiri K; Yue WW; Sarkozy A; Bertoli M; Pitt M; Kennett R; Schaefer A; Bushby K; Parton M; Lochmüller H; Palace J; Muntoni F; Beeson D
Brain; 2015 Sep; 138(Pt 9):2493-504. PubMed ID: 26133662
[TBL] [Abstract][Full Text] [Related]
10. Congenital myasthenic syndrome: a tale of two siblings.
Banerjee A; Datta Kanjilal S; Biswas T; Ghoshal A; Sarkar S
Int J Neurosci; 2024 Jun; 134(3):253-255. PubMed ID: 36018836
[TBL] [Abstract][Full Text] [Related]
11. VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.
Yıldırım M; Yarenci GB; Genç MB; Uçar Çİ; Bayav S; Tekin MN; Bektaş Ö; Teber S
Neuropediatrics; 2024 Jun; 55(3):200-204. PubMed ID: 38531369
[TBL] [Abstract][Full Text] [Related]
12. Early and lethal neurodegeneration with myasthenic and myopathic features: A new
Schorling DC; Rost S; Lefeber DJ; Brady L; Müller CR; Korinthenberg R; Tarnopolsky M; Bönnemann CG; Rodenburg RJ; Bugiani M; Beytia M; Krüger M; van der Knaap M; Kirschner J
Neurology; 2017 Aug; 89(7):657-664. PubMed ID: 28733338
[TBL] [Abstract][Full Text] [Related]
13. Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in
Della Marina A; Arlt A; Schara-Schmidt U; Depienne C; Gangfuß A; Kölbel H; Sickmann A; Freier E; Kohlschmidt N; Hentschel A; Weis J; Czech A; Grüneboom A; Roos A
Cells; 2021 Dec; 10(12):. PubMed ID: 34943989
[TBL] [Abstract][Full Text] [Related]
14. Clinical and neurophysiological characteristics of congenital myasthenic syndromes presenting in early infancy.
Zafeiriou DI; Pitt M; de Sousa C
Brain Dev; 2004 Jan; 26(1):47-52. PubMed ID: 14729415
[TBL] [Abstract][Full Text] [Related]
15. Variants of
Lamond A; Buckley D; O'Dea J; Turner L
BMJ Case Rep; 2021 Jan; 14(1):. PubMed ID: 33462016
[TBL] [Abstract][Full Text] [Related]
16. Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine.
Durmus H; Sticht H; Ceylaner S; Hashemolhosseini S; Deymeer F
Acta Neurol Belg; 2021 Dec; 121(6):1755-1760. PubMed ID: 33030681
[TBL] [Abstract][Full Text] [Related]
17. Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Kinali M; Beeson D; Pitt MC; Jungbluth H; Simonds AK; Aloysius A; Cockerill H; Davis T; Palace J; Manzur AY; Jimenez-Mallebrera C; Sewry C; Muntoni F; Robb SA
J Neuroimmunol; 2008 Sep; 201-202():6-12. PubMed ID: 18707767
[TBL] [Abstract][Full Text] [Related]
18. New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report.
Feng H; Zhou H
Medicine (Baltimore); 2017 Dec; 96(51):e8981. PubMed ID: 29390429
[TBL] [Abstract][Full Text] [Related]
19. 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
Mol Genet Genomic Med; 2023 Jun; 11(6):e2154. PubMed ID: 36840359
[TBL] [Abstract][Full Text] [Related]
20. Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations.
Pattrakornkul N; Ittiwut C; Boonsimma P; Boonyapisit K; Khongkhatithum C; Sanmaneechai O; Suphapeetiporn K; Shotelersuk V
Neuromuscul Disord; 2020 Oct; 30(10):851-858. PubMed ID: 32978031
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]