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 *

109 related articles for article (PubMed ID: 9498929)

  • 21. Congenital myasthenic syndromes: recent advances.
    Engel AG; Ohno K; Sine SM
    Arch Neurol; 1999 Feb; 56(2):163-7. PubMed ID: 10025421
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
    Müller JS; Mihaylova V; Abicht A; Lochmüller H
    Expert Rev Mol Med; 2007 Aug; 9(22):1-20. PubMed ID: 17686188
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
    Abicht A; Stucka R; Karcagi V; Herczegfalvi A; Horváth R; Mortier W; Schara U; Ramaekers V; Jost W; Brunner J; Janssen G; Seidel U; Schlotter B; Müller-Felber W; Pongratz D; Rüdel R; Lochmüller H
    Neurology; 1999 Oct; 53(7):1564-9. PubMed ID: 10534268
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel.
    Engel AG; Uchitel OD; Walls TJ; Nagel A; Harper CM; Bodensteiner J
    Ann Neurol; 1993 Jul; 34(1):38-47. PubMed ID: 7685992
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor.
    Engel AG; Nagel A; Walls TJ; Harper CM; Waisburg HA
    Muscle Nerve; 1993 Dec; 16(12):1284-92. PubMed ID: 8232383
    [TBL] [Abstract][Full Text] [Related]  

  • 26. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
    Engel AG; Ohno K; Milone M; Wang HL; Nakano S; Bouzat C; Pruitt JN; Hutchinson DO; Brengman JM; Bren N; Sieb JP; Sine SM
    Hum Mol Genet; 1996 Sep; 5(9):1217-27. PubMed ID: 8872460
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Genetically determined neuromuscular disorders of some Roma families living in Hungary.
    Aranka L; Peter M; Jeno K; Katalin R; Gyula T; Emoke E; Agnes H; Tibor H; Laszlo T; Edit B; Marta K; Janos S; Veronika K
    Ideggyogy Sz; 2009 Jan; 62(1-2):41-7. PubMed ID: 19248726
    [TBL] [Abstract][Full Text] [Related]  

  • 28. IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit.
    Fidzianska A; Ryniewicz B; Shen XM; Engel AG
    Neuromuscul Disord; 2005 Nov; 15(11):753-9. PubMed ID: 16198106
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Congenital myasthenic syndromes.
    Nogajski JH; Kiernan MC; Ouvrier RA; Andrews PI
    J Clin Neurosci; 2009 Jan; 16(1):1-11. PubMed ID: 19017561
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Autosomal recessive limb girdle myasthenia in two sisters.
    Shankar A; Solomon T; Joseph TP; Gnanamuthu C
    Neurol India; 2002 Dec; 50(4):500-3. PubMed ID: 12577107
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
    McMacken G; Whittaker RG; Evangelista T; Abicht A; Dusl M; Lochmüller H
    J Neurol; 2018 Jan; 265(1):194-203. PubMed ID: 29189923
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Variable phenotypes associated with mutations in DOK7.
    Anderson JA; Ng JJ; Bowe C; McDonald C; Richman DP; Wollmann RL; Maselli RA
    Muscle Nerve; 2008 Apr; 37(4):448-56. PubMed ID: 18161030
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
    Nowak KJ; Wattanasirichaigoon D; Goebel HH; Wilce M; Pelin K; Donner K; Jacob RL; Hübner C; Oexle K; Anderson JR; Verity CM; North KN; Iannaccone ST; Müller CR; Nürnberg P; Muntoni F; Sewry C; Hughes I; Sutphen R; Lacson AG; Swoboda KJ; Vigneron J; Wallgren-Pettersson C; Beggs AH; Laing NG
    Nat Genet; 1999 Oct; 23(2):208-12. PubMed ID: 10508519
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.
    Gaudon K; Pénisson-Besnier I; Chabrol B; Bouhour F; Demay L; Ben Ammar A; Bauché S; Vial C; Nicolas G; Eymard B; Hantaï D; Richard P
    J Med Genet; 2010 Dec; 47(12):795-6. PubMed ID: 20930056
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.
    Sieb JP; Kraner S; Schrank B; Reitter B; Goebel TH; Tzartos SJ; Steinlein OK
    Ann Neurol; 2000 Sep; 48(3):379-83. PubMed ID: 10976646
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.
    Maselli RA; Chen D; Mo D; Bowe C; Fenton G; Wollmann RL
    Muscle Nerve; 2003 Feb; 27(2):180-7. PubMed ID: 12548525
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.