BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 16928999)

  • 1. Case records of the Massachusetts General Hospital. Case 26-2006. A 19-year-old woman with difficulty walking.
    Venna N; Sims KB; Grant PE
    N Engl J Med; 2006 Aug; 355(8):831-9. PubMed ID: 16928999
    [No Abstract]   [Full Text] [Related]  

  • 2. [Dopa-responsive dystonia--a hereditary dystonia easy to treat].
    Farbu E; Bindoff LA
    Tidsskr Nor Laegeforen; 2002 Feb; 122(4):379-81. PubMed ID: 11915666
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Late onset dopa-responsive dystonia with tremor, gait freezing and behavioural disturbance and a normal dopamine transporter scan.
    Harper A; Bayliss M; Saha R; Scutt A; Nisbet A
    Age Ageing; 2008 Nov; 37(6):719-20. PubMed ID: 18922834
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dopa-responsive dystonia presenting as delayed and awkward gait.
    Cheyette BN; Cheyette SN; Cusmano-Ozog K; Enns GM
    Pediatr Neurol; 2008 Apr; 38(4):273-5. PubMed ID: 18358407
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Molecular biology examinations of dopa-responsive dystonia].
    Romstad A; Güttler F
    Ugeskr Laeger; 1999 May; 161(20):2960. PubMed ID: 10354785
    [No Abstract]   [Full Text] [Related]  

  • 6. A case of levodopa-responsive camptocormia associated with advanced Parkinson's disease.
    Ho B; Prakash R; Morgan JC; Sethi KD
    Nat Clin Pract Neurol; 2007 Sep; 3(9):526-30. PubMed ID: 17805247
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia].
    Teva Galán MD; Esteban Cantó V; Picó Alfonso N; Jover Cerdá J
    An Pediatr (Barc); 2011 Jul; 75(1):55-7. PubMed ID: 21429827
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Segawa's disease: dopa-responsive dystonia.
    Gordon N
    Int J Clin Pract; 2008 Jun; 62(6):943-6. PubMed ID: 17971156
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
    Kikuchi A; Takeda A; Fujihara K; Kimpara T; Shiga Y; Tanji H; Nagai M; Ichinose H; Urano F; Okamura N; Arai H; Itoyama Y
    Mov Disord; 2004 May; 19(5):590-3. PubMed ID: 15133828
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.
    Furuya H; Murai H; Takasugi K; Ohyagi Y; Urano F; Kishi T; Ichinose H; Kira J
    Clin Neurol Neurosurg; 2006 Dec; 108(8):784-6. PubMed ID: 16289769
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].
    Budrewicz SP; Góral M; Koszewicz M; Tarantowicz P; Podemski R
    Wiad Lek; 2006; 59(9-10):713-5. PubMed ID: 17338136
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Evaluation and treatment of dystonia.
    Scott BL
    South Med J; 2000 Aug; 93(8):746-51. PubMed ID: 10963502
    [TBL] [Abstract][Full Text] [Related]  

  • 13. GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness.
    Robinson R; McCarthy GT; Bandmann O; Dobbie M; Surtees R; Wood NW
    J Neurol Neurosurg Psychiatry; 1999 Jan; 66(1):86-9. PubMed ID: 9886460
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).
    Ikeda T; Kanmura K; Kodama Y; Sawada K; Nunoi H; Hasegawa K
    Brain Dev; 2009 Feb; 31(2):173-5. PubMed ID: 18621497
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking.
    Tarsy D; Sweadner KJ; Song PC
    N Engl J Med; 2010 Jun; 362(23):2213-9. PubMed ID: 20558373
    [No Abstract]   [Full Text] [Related]  

  • 16. Dopa-responsive dystonia of childhood: a case report.
    Tan KK; Easaw PE
    Singapore Med J; 1995 Jun; 36(3):326-7. PubMed ID: 8553105
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome.
    Berger SI; Miller I; Tochen L
    Pediatrics; 2022 Feb; 149(2):. PubMed ID: 35083481
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
    Leuzzi V; Carducci C; Carducci C; Cardona F; Artiola C; Antonozzi I
    Neurology; 2002 Oct; 59(8):1241-3. PubMed ID: 12391354
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
    Yum MS; Ko TS; Yoo HW; Chung SJ
    Pediatr Neurol; 2008 May; 38(5):367-9. PubMed ID: 18410856
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Dopa-sensitive muscular dystonia. Segawa's syndrome. A case report].
    Giroud M; Septien L; Couillault G; Gras P; Nivelon JL; Dumas R
    Ann Pediatr (Paris); 1992 Apr; 39(4):248-50. PubMed ID: 1616238
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.