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 *

303 related articles for article (PubMed ID: 22661499)

  • 1. 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]  

  • 2. 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]  

  • 3. Dok-7 mutations underlie a neuromuscular junction synaptopathy.
    Beeson D; Higuchi O; Palace J; Cossins J; Spearman H; Maxwell S; Newsom-Davis J; Burke G; Fawcett P; Motomura M; Müller JS; Lochmüller H; Slater C; Vincent A; Yamanashi Y
    Science; 2006 Sep; 313(5795):1975-8. PubMed ID: 16917026
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Dok-7/MuSK signaling and a congenital myasthenic syndrome.
    Yamanashi Y; Higuch O; Beeson D
    Acta Myol; 2008 Jul; 27(1):25-9. PubMed ID: 19108574
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
    Ben Ammar A; Petit F; Alexandri N; Gaudon K; Bauché S; Rouche A; Gras D; Fournier E; Koenig J; Stojkovic T; Lacour A; Petiot P; Zagnoli F; Viollet L; Pellegrini N; Orlikowski D; Lazaro L; Ferrer X; Stoltenburg G; Paturneau-Jouas M; Hentati F; Fardeau M; Sternberg D; Hantaï D; Richard P; Eymard B
    J Neurol; 2010 May; 257(5):754-66. PubMed ID: 20012313
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Congenital myasthenic syndromes and the formation of the neuromuscular junction.
    Beeson D; Webster R; Cossins J; Lashley D; Spearman H; Maxwell S; Slater CR; Newsom-Davis J; Palace J; Vincent A
    Ann N Y Acad Sci; 2008; 1132():99-103. PubMed ID: 18567858
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
    Logan CV; Cossins J; Rodríguez Cruz PM; Parry DA; Maxwell S; Martínez-Martínez P; Riepsaame J; Abdelhamed ZA; Lake AV; Moran M; Robb S; Chow G; Sewry C; Hopkins PM; Sheridan E; Jayawant S; Palace J; Johnson CA; Beeson D
    Am J Hum Genet; 2015 Dec; 97(6):878-85. PubMed ID: 26626625
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
    Müller JS; Jepson CD; Laval SH; Bushby K; Straub V; Lochmüller H
    Hum Mol Genet; 2010 May; 19(9):1726-40. PubMed ID: 20147321
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
    Hamuro J; Higuchi O; Okada K; Ueno M; Iemura S; Natsume T; Spearman H; Beeson D; Yamanashi Y
    J Biol Chem; 2008 Feb; 283(9):5518-24. PubMed ID: 18165682
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].
    Chevessier F; Faraut B; Ravel-Chapuis A; Richard P; Gaudon K; Bauché S; Prioleau C; Herbst R; Goillot E; Ioos C; Azulay JP; Attarian S; Leroy JP; Fournier E; Legay C; Schaeffer L; Koenig J; Fardeau M; Eymard B; Pouget J; Hantaï D
    J Soc Biol; 2005; 199(1):61-77. PubMed ID: 16114265
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
    Zhang S; Ohkawara B; Ito M; Huang Z; Zhao F; Nakata T; Takeuchi T; Sakurai H; Komaki H; Kamon M; Araki T; Ohno K
    Hum Mol Genet; 2023 Apr; 32(9):1511-1523. PubMed ID: 36579833
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
    Ohno K; Engel AG; Shen XM; Selcen D; Brengman J; Harper CM; Tsujino A; Milone M
    Am J Hum Genet; 2002 Apr; 70(4):875-85. PubMed ID: 11791205
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Synaptic dysfunction in congenital myasthenic syndromes.
    Beeson D
    Ann N Y Acad Sci; 2012 Dec; 1275():63-9. PubMed ID: 23278579
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.