BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

359 related articles for article (PubMed ID: 19064877)

  • 1. 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; 71(24):1967-72. PubMed ID: 19064877
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.
    Richard P; Gaudon K; Fournier E; Jackson C; Bauché S; Haddad H; Koenig J; Echenne B; Hantaï D; Eymard B
    Neuromuscul Disord; 2007 May; 17(5):409-14. PubMed ID: 17363247
    [TBL] [Abstract][Full Text] [Related]  

  • 4. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
    Yanagisawa A; Bouchet C; Van den Bergh PY; Cuisset JM; Viollet L; Leturcq F; Romero NB; Quijano-Roy S; Fardeau M; Seta N; Guicheney P
    Neurology; 2007 Sep; 69(12):1254-60. PubMed ID: 17634419
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: prevalence, origin, and association with performance traits.
    Thompson PN; van der Werf JH; Heesterbeek JA; van Arendonk JA
    J Anim Sci; 2007 Mar; 85(3):604-9. PubMed ID: 17121978
    [TBL] [Abstract][Full Text] [Related]  

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

  • 7. Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.
    Barisic N; Schmidt C; Sidorova OP; Herczegfalvi A; Gekht BM; Song IH; Stucka R; Karcagi V; Abicht A; Lochmüller H
    Neuropediatrics; 2002 Oct; 33(5):249-54. PubMed ID: 12536367
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
    Müller JS; Baumeister SK; Rasic VM; Krause S; Todorovic S; Kugler K; Müller-Felber W; Abicht A; Lochmüller H
    Neurology; 2006 Oct; 67(7):1159-64. PubMed ID: 16931511
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.
    Müller JS; Stucka R; Neudecker S; Zierz S; Schmidt C; Huebner A; Lochmüller H; Abicht A
    Neurology; 2005 Aug; 65(3):463-5. PubMed ID: 16087917
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
    Mihaylova V; Müller JS; Vilchez JJ; Salih MA; Kabiraj MM; D'Amico A; Bertini E; Wölfle J; Schreiner F; Kurlemann G; Rasic VM; Siskova D; Colomer J; Herczegfalvi A; Fabriciova K; Weschke B; Scola R; Hoellen F; Schara U; Abicht A; Lochmüller H
    Brain; 2008 Mar; 131(Pt 3):747-59. PubMed ID: 18180250
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
    Miksch S; Lumsden A; Guenther UP; Foernzler D; Christen-Zäch S; Daugherty C; Ramesar RK; Lebwohl M; Hohl D; Neldner KH; Lindpaintner K; Richards RI; Struk B
    Hum Mutat; 2005 Sep; 26(3):235-48. PubMed ID: 16086317
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
    Schara U; Christen HJ; Durmus H; Hietala M; Krabetz K; Rodolico C; Schreiber G; Topaloglu H; Talim B; Voss W; Pihko H; Abicht A; Müller JS; Lochmüller H
    Eur J Paediatr Neurol; 2010 Jul; 14(4):326-33. PubMed ID: 19900826
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
    De Siervi A; Rossetti MV; Parera VE; Astrin KH; Aizencang GI; Glass IA; Batlle AM; Desnick RJ
    Am J Med Genet; 1999 Oct; 86(4):366-75. PubMed ID: 10494093
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.
    Hadj-Rabia S; Salomon R; Pelet A; Penet C; Rotschild A; de Laët MH; Chaouachi B; Hannachi R; Bakiri F; Brauner R; Chaussain JL; Munnich A; Lyonnet S
    Eur J Hum Genet; 2000 Aug; 8(8):613-20. PubMed ID: 10951524
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
    Caputo M; Rivolta CM; Gutnisky VJ; Gruñeiro-Papendieck L; Chiesa A; Medeiros-Neto G; González-Sarmiento R; Targovnik HM
    J Endocrinol; 2007 Oct; 195(1):167-77. PubMed ID: 17911408
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
    Auslender N; Sharon D; Abbasi AH; Garzozi HJ; Banin E; Ben-Yosef T
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5431-8. PubMed ID: 18055789
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
    Moulard B; Genton P; Grid D; Jeanpierre M; Ouazzani R; Mrabet A; Morris M; LeGuern E; Dravet C; Mauguière F; Utermann B; Baldy-Moulinier M; Belaidi H; Bertran F; Biraben A; Ali Chérif A; Chkili T; Crespel A; Darcel F; Dulac O; Geny C; Humbert-Claude V; Kassiotis P; Buresi C; Malafosse A
    Hum Genet; 2002 Sep; 111(3):255-62. PubMed ID: 12215838
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 18.