BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 38711225)

  • 1. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome.
    Akula SK; Quiroz V; D'Gama AM; Chiu MY; Koh HY; Saffari A; Zaman Z; Tam A; Srouji R; Valentine R; Wiltrout K; Pinto A; Harini C; Pearl PL; Poduri A; Ebrahimi-Fakhari D
    Ann Clin Transl Neurol; 2024 Jun; 11(6):1643-1647. PubMed ID: 38711225
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Status dystonicus due to missense variant in ARX: Diagnosis and management.
    Gorman KM; Cary H; Gaffney L; Forman E; Waldron D; Al-Delami F; Lynch BJ; King MD; Allen NM
    Eur J Paediatr Neurol; 2018 Sep; 22(5):862-865. PubMed ID: 29778428
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
    Shoubridge C; Jackson M; Grinton B; Berkovic SF; Scheffer IE; Huskins S; Thomas A; Ware T
    Am J Med Genet A; 2019 Aug; 179(8):1483-1490. PubMed ID: 31145546
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
    Thai MHN; Gardner A; Redpath L; Mattiske T; Dearsley O; Shaw M; Vulto-van Silfhout AT; Pfundt R; Dixon J; McGaughran J; Pérez-Jurado LA; Gécz J; Shoubridge C
    Hum Mutat; 2020 Aug; 41(8):1407-1424. PubMed ID: 32383243
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.
    Schirinzi T; Garone G; Travaglini L; Vasco G; Galosi S; Rios L; Castiglioni C; Barassi C; Battaglia D; Gambardella ML; Cantonetti L; Graziola F; Marras CE; Castelli E; Bertini E; Capuano A; Leuzzi V
    Parkinsonism Relat Disord; 2019 Apr; 61():19-25. PubMed ID: 30642806
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.
    Absoud M; Parr JR; Halliday D; Pretorius P; Zaiwalla Z; Jayawant S
    Dev Med Child Neurol; 2010 Mar; 52(3):305-7. PubMed ID: 19747203
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
    Marsh E; Fulp C; Gomez E; Nasrallah I; Minarcik J; Sudi J; Christian SL; Mancini G; Labosky P; Dobyns W; Brooks-Kayal A; Golden JA
    Brain; 2009 Jun; 132(Pt 6):1563-76. PubMed ID: 19439424
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Expansion of the ARX spectrum.
    Wallerstein R; Sugalski R; Cohn L; Jawetz R; Friez M
    Clin Neurol Neurosurg; 2008 Jun; 110(6):631-4. PubMed ID: 18462864
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Type 1 early infantile epileptic encephalopathy: A case report and literature review.
    Zaker E; Nouri N; Movahedinia M; Dadbinpour A; Vahidi Mehrjardi MY
    Mol Genet Genomic Med; 2024 Feb; 12(2):e2412. PubMed ID: 38400608
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.
    Turner G; Partington M; Kerr B; Mangelsdorf M; Gecz J
    Am J Med Genet; 2002 Nov; 112(4):405-11. PubMed ID: 12376946
    [TBL] [Abstract][Full Text] [Related]  

  • 17. ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.
    Kwong AK; Chu VL; Rodenburg RJT; Smeitink J; Fung CW
    Brain Dev; 2019 Nov; 41(10):883-887. PubMed ID: 31324350
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
    Dzinovic I; Škorvánek M; Necpál J; Boesch S; Švantnerová J; Wagner M; Havránková P; Pavelekova P; Haň V; Janzarik WG; Berweck S; Diebold I; Kuster A; Jech R; Winkelmann J; Zech M
    Parkinsonism Relat Disord; 2021 Sep; 90():73-78. PubMed ID: 34399161
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.