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 *

445 related articles for article (PubMed ID: 14659409)

  • 1. Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
    Yasaki E; Prioleau C; Barbier J; Richard P; Andreux F; Leroy JP; Dartevelle P; Koenig J; Molgó J; Fardeau M; Eymard B; Hantaï D
    Neuromuscul Disord; 2004 Jan; 14(1):24-32. PubMed ID: 14659409
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
    Maselli RA; Dunne V; Pascual-Pascual SI; Bowe C; Agius M; Frank R; Wollmann RL
    Muscle Nerve; 2003 Sep; 28(3):293-301. PubMed ID: 12929188
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
    Müller JS; Mildner G; Müller-Felber W; Schara U; Krampfl K; Petersen B; Petrova S; Stucka R; Mortier W; Bufler J; Kurlemann G; Huebner A; Merlini L; Lochmüller H; Abicht A
    Neurology; 2003 Jun; 60(11):1805-10. PubMed ID: 12796535
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
    Milone M; Shen XM; Selcen D; Ohno K; Brengman J; Iannaccone ST; Harper CM; Engel AG
    Neurology; 2009 Jul; 73(3):228-35. PubMed ID: 19620612
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
    Brugnoni R; Maggi L; Canioni E; Moroni I; Pantaleoni C; D'Arrigo S; Riva D; Cornelio F; Bernasconi P; Mantegazza R
    J Neurol; 2010 Jul; 257(7):1119-23. PubMed ID: 20157724
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.
    Engel AG; Ohno K; Shen XM; Sine SM
    Ann N Y Acad Sci; 2003 Sep; 998():138-60. PubMed ID: 14592871
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Common founder effect of rapsyn N88K studied using intragenic markers.
    Dunne V; Maselli RA
    J Hum Genet; 2004; 49(7):366-369. PubMed ID: 15252722
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [Congenital myasthenic syndromes due to mutations in the rapsyn gene].
    Eymard B; Ioos C; Barois A; Estournet B; Mayer M; Fournier E; Yasaki E; Prioleau C; Bauché S; Gaudon K; Leroy JP; Koenig J; Richard P; Hantaï D
    Rev Neurol (Paris); 2004 May; 160(5 Pt 2):S78-84. PubMed ID: 15269664
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of pathogenic mutations in the human rapsyn gene.
    Dunne V; Maselli RA
    J Hum Genet; 2003; 48(4):204-7. PubMed ID: 12730725
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
    Liao X; Wang Y; Lai X; Wang S
    Biomol Biomed; 2023 Sep; 23(5):772-784. PubMed ID: 36815443
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation.
    Navedo MF; Lasalde-Dominicci JA; Báez-Pagán CA; Díaz-Pérez L; Rojas LV; Maselli RA; Staub J; Schott K; Zayas R; Gomez CM
    Mol Cell Neurosci; 2006; 32(1-2):82-90. PubMed ID: 16624571
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
    Richard P; Gaudon K; Andreux F; Yasaki E; Prioleau C; Bauché S; Barois A; Ioos C; Mayer M; Routon MC; Mokhtari M; Leroy JP; Fournier E; Hainque B; Koenig J; Fardeau M; Eymard B; Hantaï D
    J Med Genet; 2003 Jun; 40(6):e81. PubMed ID: 12807980
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 23.