192 related articles for article (PubMed ID: 32978031)
1. 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]
2. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V; Müller JS; Vilchez JJ; Salih MA; Kabiraj MM; D'Amico A; Bertini E; Wölfle J; Schreiner F; Kurlemann G; Rasic VM; Siskova D; Colomer J; Herczegfalvi A; Fabriciova K; Weschke B; Scola R; Hoellen F; Schara U; Abicht A; Lochmüller H
Brain; 2008 Mar; 131(Pt 3):747-59. PubMed ID: 18180250
[TBL] [Abstract][Full Text] [Related]
3. The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N; De Cosmo L; Palumbo O; Ranieri C; Sesta M; Capodiferro D; Pantaleo A; Iapicca P; Lastella P; Capozza M; Schettini F; Bukvic N; Bagnulo R; Resta N
Genes (Basel); 2020 Dec; 11(12):. PubMed ID: 33353066
[TBL] [Abstract][Full Text] [Related]
4. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Guo Y; Menezes MJ; Menezes MP; Liang J; Li D; Riley LG; Clarke NF; Andrews PI; Tian L; Webster R; Wang F; Liu X; Shen Y; Thorburn DR; Keating BJ; Engel A; Hakonarson H; Christodoulou J; Xu X
Neuromuscul Disord; 2015 Mar; 25(3):257-61. PubMed ID: 25557462
[TBL] [Abstract][Full Text] [Related]
5. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Aharoni S; Sadeh M; Shapira Y; Edvardson S; Daana M; Dor-Wollman T; Mimouni-Bloch A; Halevy A; Cohen R; Sagie L; Argov Z; Rabie M; Spiegel R; Chervinsky I; Orenstein N; Engel AG; Nevo Y
Neuromuscul Disord; 2017 Feb; 27(2):136-140. PubMed ID: 28024842
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
Schreiner F; Hoppenz M; Klaeren R; Reimann J; Woelfle J
Neuromuscul Disord; 2007 Mar; 17(3):262-5. PubMed ID: 17300939
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
Matlik HN; Milhem RM; Saadeldin IY; Al-Jaibeji HS; Al-Gazali L; Ali BR
Pediatr Neurol; 2014 Jul; 51(1):165-9. PubMed ID: 24938146
[TBL] [Abstract][Full Text] [Related]
9. First characterization of congenital myasthenic syndrome type 5 in North Africa.
Khaoula R; Cerino M; Da Silva N; Delague V; Nahili H; Kriouile Y; Gorokhova S; Bartoli M; Saïle R; Barakat A; Krahn M
Mol Biol Rep; 2021 Oct; 48(10):6999-7006. PubMed ID: 34553317
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 28464723
[TBL] [Abstract][Full Text] [Related]
11. Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.
El Kadiri Y; Ratbi I; Sefiani A; Lyahyai J
BMC Neurol; 2022 Aug; 22(1):292. PubMed ID: 35932018
[TBL] [Abstract][Full Text] [Related]
12. COLQ-related congenital myasthenic syndrome: An integrative view.
Eshaghian T; Rabbani B; Badv RS; Mikaeeli S; Gharib B; Iyadurai S; Mahdieh N
Neurogenetics; 2023 Jul; 24(3):189-200. PubMed ID: 37231228
[TBL] [Abstract][Full Text] [Related]
13. Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
Selvam P; Arunachal G; Danda S; Chapla A; Sivadasan A; Alexander M; Thomas MM; Thomas NJ
J Clin Neuromuscul Dis; 2018 Sep; 20(1):14-27. PubMed ID: 30124556
[TBL] [Abstract][Full Text] [Related]
14. Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Mishra S; Nair KV; Shukla A
Clin Dysmorphol; 2023 Oct; 32(4):162-167. PubMed ID: 37646703
[TBL] [Abstract][Full Text] [Related]
15. Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Durmus H; Shen XM; Serdaroglu-Oflazer P; Kara B; Parman-Gulsen Y; Ozdemir C; Brengman J; Deymeer F; Engel AG
Neuromuscul Disord; 2018 Apr; 28(4):315-322. PubMed ID: 29395675
[TBL] [Abstract][Full Text] [Related]
16. Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.
Tay CG; Fong CY; Li L; Ganesan V; Teh CM; Gan CS; Thong MK
J Clin Neurosci; 2020 Feb; 72():468-471. PubMed ID: 31831253
[TBL] [Abstract][Full Text] [Related]
17. Congenital myasthenic syndrome: a brief review.
Lorenzoni PJ; Scola RH; Kay CS; Werneck LC
Pediatr Neurol; 2012 Mar; 46(3):141-8. PubMed ID: 22353287
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
Nakata T; Ito M; Azuma Y; Otsuka K; Noguchi Y; Komaki H; Okumura A; Shiraishi K; Masuda A; Natsume J; Kojima S; Ohno K
Hum Mutat; 2013 Jul; 34(7):997-1004. PubMed ID: 23553736
[TBL] [Abstract][Full Text] [Related]
19. Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.
Gül Mert G; Özcan N; Hergüner Ö; Altunbaşak Ş; Incecik F; Bişgin A; Ceylaner S
Acta Neurol Belg; 2021 Apr; 121(2):529-534. PubMed ID: 31773638
[TBL] [Abstract][Full Text] [Related]
20. Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
Wargon I; Richard P; Kuntzer T; Sternberg D; Nafissi S; Gaudon K; Lebail A; Bauche S; Hantaï D; Fournier E; Eymard B; Stojkovic T
Neuromuscul Disord; 2012 Apr; 22(4):318-24. PubMed ID: 22088788
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
