BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

315 related articles for article (PubMed ID: 24613933)

  • 1. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
    Ng J; Zhen J; Meyer E; Erreger K; Li Y; Kakar N; Ahmad J; Thiele H; Kubisch C; Rider NL; Morton DH; Strauss KA; Puffenberger EG; D'Agnano D; Anikster Y; Carducci C; Hyland K; Rotstein M; Leuzzi V; Borck G; Reith ME; Kurian MA
    Brain; 2014 Apr; 137(Pt 4):1107-19. PubMed ID: 24613933
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.
    Kurian MA; Li Y; Zhen J; Meyer E; Hai N; Christen HJ; Hoffmann GF; Jardine P; von Moers A; Mordekar SR; O'Callaghan F; Wassmer E; Wraige E; Dietrich C; Lewis T; Hyland K; Heales S; Sanger T; Gissen P; Assmann BE; Reith ME; Maher ER
    Lancet Neurol; 2011 Jan; 10(1):54-62. PubMed ID: 21112253
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
    Kurian MA; Zhen J; Cheng SY; Li Y; Mordekar SR; Jardine P; Morgan NV; Meyer E; Tee L; Pasha S; Wassmer E; Heales SJ; Gissen P; Reith ME; Maher ER
    J Clin Invest; 2009 Jun; 119(6):1595-603. PubMed ID: 19478460
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.
    Morales-Briceño H; Mohammad SS; Post B; Fois AF; Dale RC; Tchan M; Fung VSC
    Brain; 2020 Mar; 143(3):751-770. PubMed ID: 31800013
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.
    Ng J; Barral S; Waddington SN; Kurian MA
    Cells; 2023 Jun; 12(13):. PubMed ID: 37443770
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
    Ng J; Cortès-Saladelafont E; Abela L; Termsarasab P; Mankad K; Sudhakar S; Gorman KM; Heales SJR; Pope S; Biassoni L; Csányi B; Cain J; Rakshi K; Coutts H; Jayawant S; Jefferson R; Hughes D; García-Cazorla À; Grozeva D; Raymond FL; Pérez-Dueñas B; De Goede C; Pearson TS; Meyer E; Kurian MA
    Mov Disord; 2020 Aug; 35(8):1357-1368. PubMed ID: 32472658
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.
    Hansen FH; Skjørringe T; Yasmeen S; Arends NV; Sahai MA; Erreger K; Andreassen TF; Holy M; Hamilton PJ; Neergheen V; Karlsborg M; Newman AH; Pope S; Heales SJ; Friberg L; Law I; Pinborg LH; Sitte HH; Loland C; Shi L; Weinstein H; Galli A; Hjermind LE; Møller LB; Gether U
    J Clin Invest; 2014 Jul; 124(7):3107-20. PubMed ID: 24911152
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pharmacochaperoning in a
    Asjad HMM; Kasture A; El-Kasaby A; Sackel M; Hummel T; Freissmuth M; Sucic S
    J Biol Chem; 2017 Nov; 292(47):19250-19265. PubMed ID: 28972153
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Infantile parkinsonism-dystonia: a dopamine "transportopathy".
    Blackstone C
    J Clin Invest; 2009 Jun; 119(6):1455-8. PubMed ID: 19504720
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
    Aguilar JI; Cheng MH; Font J; Schwartz AC; Ledwitch K; Duran A; Mabry SJ; Belovich AN; Zhu Y; Carter AM; Shi L; Kurian MA; Fenollar-Ferrer C; Meiler J; Ryan RM; Mchaourab HS; Bahar I; Matthies HJ; Galli A
    Elife; 2021 May; 10():. PubMed ID: 34002696
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia.
    Jeon BS; Jeong JM; Park SS; Kim JM; Chang YS; Song HC; Kim KM; Yoon KY; Lee MC; Lee SB
    Ann Neurol; 1998 Jun; 43(6):792-800. PubMed ID: 9629849
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
    Ng J; Barral S; De La Fuente Barrigon C; Lignani G; Erdem FA; Wallings R; Privolizzi R; Rossignoli G; Alrashidi H; Heasman S; Meyer E; Ngoh A; Pope S; Karda R; Perocheau D; Baruteau J; Suff N; Antinao Diaz J; Schorge S; Vowles J; Marshall LR; Cowley SA; Sucic S; Freissmuth M; Counsell JR; Wade-Martins R; Heales SJR; Rahim AA; Bencze M; Waddington SN; Kurian MA
    Sci Transl Med; 2021 May; 13(594):. PubMed ID: 34011628
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 'That DAT' gene that causes dystonia-parkinsonism: broadening the phenotype.
    Bhatia KP
    Brain; 2014 Apr; 137(Pt 4):976-7. PubMed ID: 24648054
    [No Abstract]   [Full Text] [Related]  

  • 14. Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment.
    Yildiz Y; Pektas E; Tokatli A; Haliloglu G
    Neuropediatrics; 2017 Feb; 48(1):49-52. PubMed ID: 27690368
    [TBL] [Abstract][Full Text] [Related]  

  • 15. From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
    Hully M; Vuillaumier-Barrot S; Le Bizec C; Boddaert N; Kaminska A; Lascelles K; de Lonlay P; Cances C; des Portes V; Roubertie A; Doummar D; LeBihannic A; Degos B; de Saint Martin A; Flori E; Pedespan JM; Goldenberg A; Vanhulle C; Bekri S; Roubergue A; Heron B; Cournelle MA; Kuster A; Chenouard A; Loiseau MN; Valayannopoulos V; Chemaly N; Gitiaux C; Seta N; Bahi-Buisson N
    Eur J Med Genet; 2015 Sep; 58(9):443-54. PubMed ID: 26193382
    [TBL] [Abstract][Full Text] [Related]  

  • 16. PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies.
    Weng YH; Chou YH; Wu WS; Lin KJ; Chang HC; Yen TC; Chen RS; Wey SP; Lu CS
    J Neurol; 2007 Oct; 254(10):1347-55. PubMed ID: 17960343
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
    Leen WG; Klepper J; Verbeek MM; Leferink M; Hofste T; van Engelen BG; Wevers RA; Arthur T; Bahi-Buisson N; Ballhausen D; Bekhof J; van Bogaert P; Carrilho I; Chabrol B; Champion MP; Coldwell J; Clayton P; Donner E; Evangeliou A; Ebinger F; Farrell K; Forsyth RJ; de Goede CG; Gross S; Grunewald S; Holthausen H; Jayawant S; Lachlan K; Laugel V; Leppig K; Lim MJ; Mancini G; Marina AD; Martorell L; McMenamin J; Meuwissen ME; Mundy H; Nilsson NO; Panzer A; Poll-The BT; Rauscher C; Rouselle CM; Sandvig I; Scheffner T; Sheridan E; Simpson N; Sykora P; Tomlinson R; Trounce J; Webb D; Weschke B; Scheffer H; Willemsen MA
    Brain; 2010 Mar; 133(Pt 3):655-70. PubMed ID: 20129935
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
    Mir A; Almudhry M; Alghamdi F; Albaradie R; Ibrahim M; Aldurayhim F; Alhedaithy A; Alamr M; Bawazir M; Mohammad S; Abdelhay S; Bashir S; Housawi Y
    Hum Genet; 2022 Jan; 141(1):81-99. PubMed ID: 34797406
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
    Brashear A; Dobyns WB; de Carvalho Aguiar P; Borg M; Frijns CJ; Gollamudi S; Green A; Guimaraes J; Haake BC; Klein C; Linazasoro G; Münchau A; Raymond D; Riley D; Saunders-Pullman R; Tijssen MA; Webb D; Zaremba J; Bressman SB; Ozelius LJ
    Brain; 2007 Mar; 130(Pt 3):828-35. PubMed ID: 17282997
    [TBL] [Abstract][Full Text] [Related]  

  • 20. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
    Di Fonzo A; Chien HF; Socal M; Giraudo S; Tassorelli C; Iliceto G; Fabbrini G; Marconi R; Fincati E; Abbruzzese G; Marini P; Squitieri F; Horstink MW; Montagna P; Libera AD; Stocchi F; Goldwurm S; Ferreira JJ; Meco G; Martignoni E; Lopiano L; Jardim LB; Oostra BA; Barbosa ER; ; Bonifati V
    Neurology; 2007 May; 68(19):1557-62. PubMed ID: 17485642
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.