These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

512 related articles for article (PubMed ID: 26552645)

  • 1. Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
    Tsao CY
    Pediatr Neurol; 2016 Jan; 54():85-7. PubMed ID: 26552645
    [TBL] [Abstract][Full Text] [Related]  

  • 2. DOK7 congenital myasthenic syndrome.
    Palace J
    Ann N Y Acad Sci; 2012 Dec; 1275():49-53. PubMed ID: 23278577
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
    Burke G; Hiscock A; Klein A; Niks EH; Main M; Manzur AY; Ng J; de Vile C; Muntoni F; Beeson D; Robb S
    Neuromuscul Disord; 2013 Feb; 23(2):170-5. PubMed ID: 23219351
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
    Lorenzoni PJ; Scola RH; Kay CS; Filla L; Miranda AP; Pinheiro JM; Chaouch A; Lochmüller H; Werneck LC
    J Neurol Sci; 2013 Aug; 331(1-2):155-7. PubMed ID: 23790237
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.
    Webster RG; Vanhaesebrouck AE; Maxwell SE; Cossins JA; Liu W; Ueta R; Yamanashi Y; Beeson DMW
    Hum Mol Genet; 2020 Aug; 29(14):2325-2336. PubMed ID: 32543656
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
    Jephson CG; Mills NA; Pitt MC; Beeson D; Aloysius A; Muntoni F; Robb SA; Bailey CM
    Int J Pediatr Otorhinolaryngol; 2010 Sep; 74(9):991-4. PubMed ID: 20554332
    [TBL] [Abstract][Full Text] [Related]  

  • 9. DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.
    Santos M; Cruz S; Peres J; Santos L; Tavares P; Basto JP; Salgado V; Valverde AH
    Neuromuscul Disord; 2018 Mar; 28(3):278-282. PubMed ID: 29395672
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review.
    Fernandes M; Caetano A; Pinto M; Medeiros E; Santos L
    Clin Neurol Neurosurg; 2021 Apr; 203():106591. PubMed ID: 33714798
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
    Müller JS; Herczegfalvi A; Vilchez JJ; Colomer J; Bachinski LL; Mihaylova V; Santos M; Schara U; Deschauer M; Shevell M; Poulin C; Dias A; Soudo A; Hietala M; Aärimaa T; Krahe R; Karcagi V; Huebner A; Beeson D; Abicht A; Lochmüller H
    Brain; 2007 Jun; 130(Pt 6):1497-506. PubMed ID: 17439981
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation.
    Khadilkar S; Bhutada A; Nallamilli B; Hegde M
    Indian Pediatr; 2015 Mar; 52(3):243-4. PubMed ID: 25849006
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
    Lorenzoni PJ; Kay CSK; Arndt RC; Hrysay NMC; Ducci RD; Fustes OHJ; Töpf A; Lochmüller H; Werneck LC; Scola RH
    J Clin Neurosci; 2020 May; 75():195-198. PubMed ID: 32238315
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
    Lashley D; Palace J; Jayawant S; Robb S; Beeson D
    Neurology; 2010 May; 74(19):1517-23. PubMed ID: 20458068
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
    Eymard B; Stojkovic T; Sternberg D; Richard P; Nicole S; Fournier E; Béhin A; Laforêt P; Servais L; Romero N; Fardeau M; Hantaï D;
    Rev Neurol (Paris); 2013 Feb; 169 Suppl 1():S45-55. PubMed ID: 23452772
    [TBL] [Abstract][Full Text] [Related]  

  • 16. DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.
    Mahjneh I; Lochmüller H; Muntoni F; Abicht A
    Neuromuscul Disord; 2013 Jan; 23(1):36-42. PubMed ID: 22884442
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
    Schara U; Barisic N; Deschauer M; Lindberg C; Straub V; Strigl-Pill N; Wendt M; Abicht A; Müller JS; Lochmüller H
    Neuromuscul Disord; 2009 Dec; 19(12):828-32. PubMed ID: 19837590
    [TBL] [Abstract][Full Text] [Related]  

  • 18. DOK7 congenital myasthenic syndrome: case series and review of literature.
    Ziaadini B; Ghaderi Yazdi B; Dirandeh E; Boostani R; Karimi N; Panahi A; Kariminejad A; Fadaee M; Ahangari F; Nafissi S
    BMC Neurol; 2024 Jun; 24(1):211. PubMed ID: 38907197
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Clinical features of the DOK7 neuromuscular junction synaptopathy.
    Palace J; Lashley D; Newsom-Davis J; Cossins J; Maxwell S; Kennett R; Jayawant S; Yamanashi Y; Beeson D
    Brain; 2007 Jun; 130(Pt 6):1507-15. PubMed ID: 17452375
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.