130 related articles for article (PubMed ID: 20845763)
1. [Topics of brain malformation and epilepsy--age-dependent epileptic encephalopathies and interneuronopathies].
Kato M
No To Hattatsu; 2010 Sep; 42(5):333-8. PubMed ID: 20845763
[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. 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]
4. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH
Curr Opin Pediatr; 2003 Dec; 15(6):567-71. PubMed ID: 14631200
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons.
Lee K; Ireland K; Bleeze M; Shoubridge C
Neuroscience; 2017 Aug; 357():220-231. PubMed ID: 28627419
[TBL] [Abstract][Full Text] [Related]
8. Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons.
Colombo E; Galli R; Cossu G; Gécz J; Broccoli V
Dev Dyn; 2004 Nov; 231(3):631-9. PubMed ID: 15376319
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M; Das S; Petras K; Kitamura K; Morohashi KI; Abuelo DN; Barr M; Bonneau D; Brady AF; Carpenter NJ; Cipero KL; Frisone F; Fukuda T; Guerrini R; Iida E; Itoh M; Lewanda AF; Nanba Y; Oka A; Proud VK; Saugier-Veber P; Schelley SL; Selicorni A; Shaner R; Silengo M; Stewart F; Sugiyama N; Toyama J; Toutain A; Vargas AL; Yanazawa M; Zackai EH; Dobyns WB
Hum Mutat; 2004 Feb; 23(2):147-159. PubMed ID: 14722918
[TBL] [Abstract][Full Text] [Related]
11. Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.
Mattiske T; Lee K; Gecz J; Friocourt G; Shoubridge C
Hum Mol Genet; 2016 Dec; 25(24):5433-5443. PubMed ID: 27798109
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons.
Colasante G; Collombat P; Raimondi V; Bonanomi D; Ferrai C; Maira M; Yoshikawa K; Mansouri A; Valtorta F; Rubenstein JL; Broccoli V
J Neurosci; 2008 Oct; 28(42):10674-86. PubMed ID: 18923043
[TBL] [Abstract][Full Text] [Related]
14. Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
Fullston T; Brueton L; Willis T; Philip S; MacPherson L; Finnis M; Gecz J; Morton J
Eur J Hum Genet; 2010 Feb; 18(2):157-62. PubMed ID: 19738637
[TBL] [Abstract][Full Text] [Related]
15. Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.
Demos MK; Fullston T; Partington MW; Gécz J; Gibson WT
Am J Med Genet A; 2009 Jul; 149A(7):1482-6. PubMed ID: 19507262
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
Cossée M; Faivre L; Philippe C; Hichri H; de Saint-Martin A; Laugel V; Bahi-Buisson N; Lemaitre JF; Leheup B; Delobel B; Demeer B; Poirier K; Biancalana V; Pinoit JM; Julia S; Chelly J; Devys D; Mandel JL
Am J Med Genet A; 2011 Jan; 155A(1):98-105. PubMed ID: 21204215
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.
Jackson MR; Lee K; Mattiske T; Jaehne EJ; Ozturk E; Baune BT; O'Brien TJ; Jones N; Shoubridge C
Neurobiol Dis; 2017 Sep; 105():245-256. PubMed ID: 28602636
[TBL] [Abstract][Full Text] [Related]
20. Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.
McKenzie O; Ponte I; Mangelsdorf M; Finnis M; Colasante G; Shoubridge C; Stifani S; Gécz J; Broccoli V
Neuroscience; 2007 Apr; 146(1):236-47. PubMed ID: 17331656
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
