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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

147 related items for PubMed ID: 16198106

  • 41. A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
    Müller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmüller H.
    Neuromuscul Disord; 2004 Nov; 14(11):744-9. PubMed ID: 15482960
    [Abstract] [Full Text] [Related]

  • 42. A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
    Petitprez S, Tiab L, Chen L, Kappeler L, Rösler KM, Schorderet D, Abriel H, Burgunder JM.
    Neurology; 2008 Nov 18; 71(21):1669-75. PubMed ID: 19015483
    [Abstract] [Full Text] [Related]

  • 43. Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients.
    Abicht A, Müller-Felber W, Fischer P, Jakob I, Kürz L, Rudel R, Mortier W, Pongratz D, Lochmüller H.
    Eur J Med Res; 1997 Dec 31; 2(12):515-22. PubMed ID: 9498929
    [Abstract] [Full Text] [Related]

  • 44. Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
    Webster R, Brydson M, Croxen R, Newsom-Davis J, Vincent A, Beeson D.
    Neurology; 2004 Apr 13; 62(7):1090-6. PubMed ID: 15079006
    [Abstract] [Full Text] [Related]

  • 45. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
    Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD, Castagni M, Bresolin N, Comi GP.
    Muscle Nerve; 2003 Jul 13; 28(1):113-7. PubMed ID: 12811782
    [Abstract] [Full Text] [Related]

  • 46. Heteromeric co-assembly of two insect nicotinic acetylcholine receptor alpha subunits: influence on sensitivity to neonicotinoid insecticides.
    Liu Z, Han Z, Zhang Y, Song F, Yao X, Liu S, Gu J, Millar NS.
    J Neurochem; 2009 Jan 13; 108(2):498-506. PubMed ID: 19046356
    [Abstract] [Full Text] [Related]

  • 47. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
    Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A.
    Neurology; 2005 Oct 25; 65(8):1304-5. PubMed ID: 16247064
    [Abstract] [Full Text] [Related]

  • 48. Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.
    Sine SM, Shen XM, Wang HL, Ohno K, Lee WY, Tsujino A, Brengmann J, Bren N, Vajsar J, Engel AG.
    J Gen Physiol; 2002 Oct 25; 120(4):483-96. PubMed ID: 12356851
    [Abstract] [Full Text] [Related]

  • 49. Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.
    Shen XM, Deymeer F, Sine SM, Engel AG.
    Ann Neurol; 2006 Jul 25; 60(1):128-36. PubMed ID: 16685696
    [Abstract] [Full Text] [Related]

  • 50. Congenital myasthenic syndromes.
    Harper CM.
    Semin Neurol; 2004 Mar 25; 24(1):111-23. PubMed ID: 15229798
    [Abstract] [Full Text] [Related]

  • 51. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.
    Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D.
    Neurology; 2008 Dec 09; 71(24):1967-72. PubMed ID: 19064877
    [Abstract] [Full Text] [Related]

  • 52. Congenital myasthenic syndromes: progress over the past decade.
    Engel AG, Ohno K, Sine SM.
    Muscle Nerve; 2003 Jan 09; 27(1):4-25. PubMed ID: 12508290
    [Abstract] [Full Text] [Related]

  • 53. 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 05; 129(21):2596-2602. PubMed ID: 27779167
    [Abstract] [Full Text] [Related]

  • 54. Novel congenital myasthenic syndromes associated with defects in quantal release.
    Milone M, Fukuda T, Shen XM, Tsujino A, Brengman J, Engel AG.
    Neurology; 2006 Apr 25; 66(8):1223-9. PubMed ID: 16525123
    [Abstract] [Full Text] [Related]

  • 55. Familial inflammatory inclusion body myositis.
    Ranque-Francois B, Maisonobe T, Dion E, Piette JC, Chauveheid MP, Amoura Z, Papo T.
    Ann Rheum Dis; 2005 Apr 25; 64(4):634-7. PubMed ID: 15769920
    [Abstract] [Full Text] [Related]

  • 56. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
    Rodríguez Cruz PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F, Polavarapu K, Lochmüller H, Palace J, Beeson D.
    Neuromuscul Disord; 2023 Feb 25; 33(2):161-168. PubMed ID: 36634413
    [Abstract] [Full Text] [Related]

  • 57. Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.
    Shen XM, Brengman J, Neubauer D, Sine SM, Engel AG.
    J Biol Chem; 2016 Feb 12; 291(7):3291-301. PubMed ID: 26698174
    [Abstract] [Full Text] [Related]

  • 58. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
    Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG.
    Proc Natl Acad Sci U S A; 1995 Jan 31; 92(3):758-62. PubMed ID: 7531341
    [Abstract] [Full Text] [Related]

  • 59. Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
    Ioos C, Barois A, Richard P, Eymard B, Hantaï D, Estournet-Mathiaud B.
    Neuropediatrics; 2004 Aug 31; 35(4):246-9. PubMed ID: 15328566
    [Abstract] [Full Text] [Related]

  • 60. 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 12; 65(1):144-6. PubMed ID: 16009904
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 8.