230 related articles for article (PubMed ID: 29258548)
1. Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
Xi J; Yan C; Liu WW; Qiao K; Lin J; Tian X; Wu H; Lu J; Wong LJ; Beeson D; Zhao C
Orphanet J Rare Dis; 2017 Dec; 12(1):182. PubMed ID: 29258548
[TBL] [Abstract][Full Text] [Related]
2. LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.
Maselli RA; Fernandez JM; Arredondo J; Navarro C; Ngo M; Beeson D; Cagney O; Williams DC; Wollmann RL; Yarov-Yarovoy V; Ferns MJ
Hum Genet; 2012 Jul; 131(7):1123-35. PubMed ID: 22205389
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
Karakaya M; Ceyhan-Birsoy O; Beggs AH; Topaloglu H
J Clin Neuromuscul Dis; 2017 Mar; 18(3):147-151. PubMed ID: 28221305
[TBL] [Abstract][Full Text] [Related]
5. A valid mouse model of AGRIN-associated congenital myasthenic syndrome.
Bogdanik LP; Burgess RW
Hum Mol Genet; 2011 Dec; 20(23):4617-33. PubMed ID: 21890498
[TBL] [Abstract][Full Text] [Related]
6. Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.
Ohkawara B; Shen X; Selcen D; Nazim M; Bril V; Tarnopolsky MA; Brady L; Fukami S; Amato AA; Yis U; Ohno K; Engel AG
JCI Insight; 2020 Apr; 5(7):. PubMed ID: 32271162
[TBL] [Abstract][Full Text] [Related]
7. Novel LG1 Mutations in Agrin Causing Congenital Myasthenia Syndrome.
Xia P; Xie F; Zhou ZJ; Lv W
Intern Med; 2022 Mar; 61(6):887-890. PubMed ID: 34433720
[TBL] [Abstract][Full Text] [Related]
8. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Huzé C; Bauché S; Richard P; Chevessier F; Goillot E; Gaudon K; Ben Ammar A; Chaboud A; Grosjean I; Lecuyer HA; Bernard V; Rouche A; Alexandri N; Kuntzer T; Fardeau M; Fournier E; Brancaccio A; Rüegg MA; Koenig J; Eymard B; Schaeffer L; Hantaï D
Am J Hum Genet; 2009 Aug; 85(2):155-67. PubMed ID: 19631309
[TBL] [Abstract][Full Text] [Related]
9. Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Jacquier A; Risson V; Simonet T; Roussange F; Lacoste N; Ribault S; Carras J; Theuriet J; Girard E; Grosjean I; Le Goff L; Kröger S; Meltoranta J; Bauché S; Sternberg D; Fournier E; Kostera-Pruszczyk A; O'Connor E; Eymard B; Lochmüller H; Martinat C; Schaeffer L
Acta Neuropathol; 2022 Oct; 144(4):707-731. PubMed ID: 35948834
[TBL] [Abstract][Full Text] [Related]
10. Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders.
Clausen L; Cossins J; Beeson D
J Neuromuscul Dis; 2018; 5(2):231-240. PubMed ID: 29865088
[TBL] [Abstract][Full Text] [Related]
11. Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.
McMacken GM; Spendiff S; Whittaker RG; O'Connor E; Howarth RM; Boczonadi V; Horvath R; Slater CR; Lochmüller H
Hum Mol Genet; 2019 Jul; 28(14):2339-2351. PubMed ID: 31220253
[TBL] [Abstract][Full Text] [Related]
12. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM; Cossins J; Estephan EP; Munell F; Selby K; Hirano M; Maroofin R; Mehrjardi MYV; Chow G; Carr A; Manzur A; Robb S; Munot P; Wei Liu W; Banka S; Fraser H; De Goede C; Zanoteli E; Conti Reed U; Sage A; Gratacos M; Macaya A; Dusl M; Senderek J; Töpf A; Hofer M; Knight R; Ramdas S; Jayawant S; Lochmüller H; Palace J; Beeson D
Brain; 2019 Jun; 142(6):1547-1560. PubMed ID: 31081514
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Ohkawara B; Cabrera-Serrano M; Nakata T; Milone M; Asai N; Ito K; Ito M; Masuda A; Ito Y; Engel AG; Ohno K
Hum Mol Genet; 2014 Apr; 23(7):1856-68. PubMed ID: 24234652
[TBL] [Abstract][Full Text] [Related]
15. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
Müller JS; Baumeister SK; Schara U; Cossins J; Krause S; von der Hagen M; Huebner A; Webster R; Beeson D; Lochmüller H; Abicht A
Brain; 2006 Oct; 129(Pt 10):2784-93. PubMed ID: 16916845
[TBL] [Abstract][Full Text] [Related]
16. Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
Maselli RA; Arredondo J; Cagney O; Ng JJ; Anderson JA; Williams C; Gerke BJ; Soliven B; Wollmann RL
Hum Mol Genet; 2010 Jun; 19(12):2370-9. PubMed ID: 20371544
[TBL] [Abstract][Full Text] [Related]
17. Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
Cossins J; Burke G; Maxwell S; Spearman H; Man S; Kuks J; Vincent A; Palace J; Fuhrer C; Beeson D
Brain; 2006 Oct; 129(Pt 10):2773-83. PubMed ID: 16945936
[TBL] [Abstract][Full Text] [Related]
18. A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle.
Zhang Y; Dai Y; Han JN; Chen ZH; Ling L; Pu CQ; Cui LY; Huang XS
Chin Med J (Engl); 2017 Oct; 130(19):2279-2282. PubMed ID: 28937031
[TBL] [Abstract][Full Text] [Related]
19. The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J; Liu WW; Belaya K; Maxwell S; Oldridge M; Lester T; Robb S; Beeson D
Hum Mol Genet; 2012 Sep; 21(17):3765-75. PubMed ID: 22661499
[TBL] [Abstract][Full Text] [Related]
20. Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.
Wang A; Xiao Y; Huang P; Liu L; Xiong J; Li J; Mao D; Liu L
Front Neurol; 2020; 11():239. PubMed ID: 32328026
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
