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 *

213 related articles for article (PubMed ID: 32895905)

  • 1. Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome.
    Eirís-Puñal J; Fuentes-Pita P; Gómez-Lado C; Pérez-Gay L; López-Vázquez A; Quintas-Rey R; Barros-Angueira F; Pardo J
    Rev Neurol; 2020 Sep; 71(6):221-224. PubMed ID: 32895905
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
    Webster RG; Cossins J; Lashley D; Maxwell S; Liu WW; Wickens JR; Martinez-Martinez P; de Baets M; Beeson D
    Exp Neurol; 2013 Oct; 248():286-98. PubMed ID: 23797154
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
    Gomez CM; Maselli RA; Vohra BP; Navedo M; Stiles JR; Charnet P; Schott K; Rojas L; Keesey J; Verity A; Wollmann RW; Lasalde-Dominicci J
    Ann Neurol; 2002 Jan; 51(1):102-12. PubMed ID: 11782989
    [TBL] [Abstract][Full Text] [Related]  

  • 4. β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.
    Vanhaesebrouck AE; Webster R; Maxwell S; Rodriguez Cruz PM; Cossins J; Wickens J; Liu WW; Cetin H; Cheung J; Ramjattan H; Palace J; Beeson D
    Brain; 2019 Dec; 142(12):3713-3727. PubMed ID: 31633155
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
    Webster R; Liu WW; Chaouch A; Lochmüller H; Beeson D
    Neuromuscul Disord; 2014 Feb; 24(2):143-7. PubMed ID: 24295813
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.
    Tan JZ; Man Y; Xiao F
    Chin Med J (Engl); 2016 Nov; 129(21):2596-2602. PubMed ID: 27779167
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Neurophysiological study in slow-channel congenital myasthenic syndrome: case report].
    Lorenzoni PJ; Kay CS; Arruda WO; Scola RH; Werneck LC
    Arq Neuropsiquiatr; 2006 Jun; 64(2A):318-21. PubMed ID: 16791378
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic characterization of an Italian family with slow-channel syndrome.
    Angelini C; Lispi L; Salvoro C; Mostacciuolo ML; Vazza G
    Neurol Sci; 2019 Mar; 40(3):503-507. PubMed ID: 30542963
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.
    Bestue-Cardiel M; Sáenz de Cabezón-Alvarez A; Capablo-Liesa JL; López-Pisón J; Peña-Segura JL; Martin-Martinez J; Engel AG
    Neurology; 2005 Jul; 65(1):144-6. PubMed ID: 16009904
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
    Webster R; Maxwell S; Spearman H; Tai K; Beckstein O; Sansom M; Beeson D
    Brain; 2012 Apr; 135(Pt 4):1070-80. PubMed ID: 22382357
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report.
    Gooneratne IK; Nandasiri S; Maxwell S; Webster R; Cossins J; Beeson D; Gunaratne K; Herath L; Senanayake S; Chang T
    J Neuromuscul Dis; 2021; 8(1):163-167. PubMed ID: 33216040
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 15036330
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
    Al-Muhaizea MA; AlQuait L; AlRasheed A; AlHarbi S; Albader AA; AlMass R; Albakheet A; Alhumaidan A; AlRasheed MM; Colak D; Kaya N
    Neuromuscul Disord; 2020 Jul; 30(7):611-615. PubMed ID: 32616363
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].
    Andreux F; Hantaï D; Eymard B
    Rev Neurol (Paris); 2004 Feb; 160(2):163-76. PubMed ID: 15034473
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Distinct phenotypes of congenital acetylcholine receptor deficiency.
    Burke G; Cossins J; Maxwell S; Robb S; Nicolle M; Vincent A; Newsom-Davis J; Palace J; Beeson D
    Neuromuscul Disord; 2004 Jun; 14(6):356-64. PubMed ID: 15145336
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.