BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

376 related articles for article (PubMed ID: 16806828)

  • 1. A new paradigm for West syndrome based on molecular and cell biology.
    Kato M
    Epilepsy Res; 2006 Aug; 70 Suppl 1():S87-95. PubMed ID: 16806828
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Frameshift mutations of the ARX gene in familial Ohtahara syndrome.
    Kato M; Koyama N; Ohta M; Miura K; Hayasaka K
    Epilepsia; 2010 Sep; 51(9):1679-84. PubMed ID: 20384723
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
    Nabbout R; Depienne C; Chipaux M; Girard B; Souville I; Trouillard O; Dulac O; Chelly J; Afenjar A; Héron D; Leguern E; Beldjord C; Bienvenu T; Bahi-Buisson N
    Epilepsy Res; 2009 Nov; 87(1):25-30. PubMed ID: 19734009
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
    Guerrini R; Moro F; Kato M; Barkovich AJ; Shiihara T; McShane MA; Hurst J; Loi M; Tohyama J; Norci V; Hayasaka K; Kang UJ; Das S; Dobyns WB
    Neurology; 2007 Jul; 69(5):427-33. PubMed ID: 17664401
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.
    Shinozaki Y; Osawa M; Sakuma H; Komaki H; Nakagawa E; Sugai K; Sasaki M; Goto Y
    Brain Dev; 2009 Jun; 31(6):469-72. PubMed ID: 18823727
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
    Kitamura K; Itou Y; Yanazawa M; Ohsawa M; Suzuki-Migishima R; Umeki Y; Hohjoh H; Yanagawa Y; Shinba T; Itoh M; Nakamura K; Goto Y
    Hum Mol Genet; 2009 Oct; 18(19):3708-24. PubMed ID: 19605412
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.
    Marcorelles P; Laquerrière A; Adde-Michel C; Marret S; Saugier-Veber P; Beldjord C; Friocourt G
    Acta Neuropathol; 2010 Oct; 120(4):503-15. PubMed ID: 20461390
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
    Poirier K; Eisermann M; Caubel I; Kaminska A; Peudonnier S; Boddaert N; Saillour Y; Dulac O; Souville I; Beldjord C; Lascelles K; Plouin P; Chelly J; Bahi-Buisson N
    Epilepsy Res; 2008 Aug; 80(2-3):224-8. PubMed ID: 18468866
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
    Kato M; Saitoh S; Kamei A; Shiraishi H; Ueda Y; Akasaka M; Tohyama J; Akasaka N; Hayasaka K
    Am J Hum Genet; 2007 Aug; 81(2):361-6. PubMed ID: 17668384
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.
    Troester MM; Trachtenberg T; Narayanan V
    J Child Neurol; 2007 Jun; 22(6):744-8. PubMed ID: 17641262
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
    Ekşioğlu YZ; Pong AW; Takeoka M
    Epilepsia; 2011 May; 52(5):984-92. PubMed ID: 21426321
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Key clinical features to identify girls with CDKL5 mutations.
    Bahi-Buisson N; Nectoux J; Rosas-Vargas H; Milh M; Boddaert N; Girard B; Cances C; Ville D; Afenjar A; Rio M; Héron D; N'guyen Morel MA; Arzimanoglou A; Philippe C; Jonveaux P; Chelly J; Bienvenu T
    Brain; 2008 Oct; 131(Pt 10):2647-61. PubMed ID: 18790821
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).
    Okazaki S; Ohsawa M; Kuki I; Kawawaki H; Koriyama T; Ri S; Ichiba H; Hai E; Inoue T; Nakamura H; Goto Y; Tomiwa K; Yamano T; Kitamura K; Itoh M
    Acta Neuropathol; 2008 Oct; 116(4):453-62. PubMed ID: 18458920
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.
    Poirier K; Van Esch H; Friocourt G; Saillour Y; Bahi N; Backer S; Souil E; Castelnau-Ptakhine L; Beldjord C; Francis F; Bienvenu T; Chelly J
    Brain Res Mol Brain Res; 2004 Mar; 122(1):35-46. PubMed ID: 14992814
    [TBL] [Abstract][Full Text] [Related]  

  • 15. X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
    Kato M; Dobyns WB
    J Child Neurol; 2005 Apr; 20(4):392-7. PubMed ID: 15921244
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.
    Rujirabanjerd S; Tongsippunyoo K; Sripo T; Limprasert P
    Eur J Med Genet; 2007; 50(5):346-54. PubMed ID: 17613295
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.
    Olivetti PR; Noebels JL
    Curr Opin Neurobiol; 2012 Oct; 22(5):859-65. PubMed ID: 22565167
    [TBL] [Abstract][Full Text] [Related]  

  • 18.
    Siehr MS; Massey CA; Noebels JL
    Dis Model Mech; 2020 Mar; 13(3):. PubMed ID: 32033960
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development.
    Beguin S; Crépel V; Aniksztejn L; Becq H; Pelosi B; Pallesi-Pocachard E; Bouamrane L; Pasqualetti M; Kitamura K; Cardoso C; Represa A
    Cereb Cortex; 2013 Jun; 23(6):1484-94. PubMed ID: 22628459
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Genetic and clinical aspects of lissencephaly].
    Verloes A; Elmaleh M; Gonzales M; Laquerrière A; Gressens P
    Rev Neurol (Paris); 2007 May; 163(5):533-47. PubMed ID: 17571022
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.