These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 17368676)

  • 41. Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene.
    Nitschke M; Steinberger D; Heberlein I; Otto V; Müller U; Vieregge P
    J Neurol Neurosurg Psychiatry; 1998 Jun; 64(6):806-8. PubMed ID: 9647318
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Dystonias responding to levodopa and failure in biopterin metabolism.
    Nomura Y; Uetake K; Yukishita S; Hagiwara H; Tanaka T; Tanaka R; Hachimori K; Nishiyama N; Segawa M
    Adv Neurol; 1998; 78():253-66. PubMed ID: 9750922
    [No Abstract]   [Full Text] [Related]  

  • 43. 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]  

  • 44. [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]  

  • 45. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
    Van Hove JL; Steyaert J; Matthijs G; Legius E; Theys P; Wevers R; Romstad A; Møller LB; Hedrich K; Goriounov D; Blau N; Klein C; Casaer P
    J Neurol Neurosurg Psychiatry; 2006 Jan; 77(1):18-23. PubMed ID: 16361586
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia.
    Furukawa Y; Kapatos G; Haycock JW; Worsley J; Wong H; Kish SJ; Nygaard TG
    Ann Neurol; 2002 May; 51(5):637-41. PubMed ID: 12112113
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Gene symbol: GTP cyclohydrolase I (GCH-I). Disease: dopa-responsive dystonia.
    Hui xie H; Wu ZY; Wang N; Murong SX
    Hum Genet; 2005 Feb; 116(3):235. PubMed ID: 15818812
    [No Abstract]   [Full Text] [Related]  

  • 48. A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene.
    Irie S; Kanazawa N; Ryoh M; Mochizuki H; Nomura Y; Segawa M
    Parkinsonism Relat Disord; 2011 Dec; 17(10):769-70. PubMed ID: 21733738
    [No Abstract]   [Full Text] [Related]  

  • 49. Motor system inhibition in dopa-responsive dystonia and its modulation by treatment.
    Huang YZ; Trender-Gerhard I; Edwards MJ; Mir P; Rothwell JC; Bhatia KP
    Neurology; 2006 Apr; 66(7):1088-90. PubMed ID: 16606922
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Neonatal rigid-akinetic syndrome and dentato-olivary dysplasia.
    Raspall M; Ortega-Aznar A; del Toro M; Roig M; Macaya A
    Pediatr Neurol; 2006 Feb; 34(2):132-4. PubMed ID: 16458826
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse.
    Khoo JP; Nicoli T; Alp NJ; Fullerton J; Flint J; Channon KM
    Mol Genet Metab; 2004 Jul; 82(3):251-4. PubMed ID: 15234340
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Effect of bilateral subthalamic nucleus stimulation on levodopa-unresponsive axial symptoms in Parkinson's disease.
    Yamada K; Goto S; Hamasaki T; Kuratsu JI
    Acta Neurochir (Wien); 2008 Jan; 150(1):15-22; discussion 22. PubMed ID: 18180867
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency.
    Furukawa Y; Kish SJ; Fahn S
    Ann Neurol; 2004 Jan; 55(1):147-8. PubMed ID: 14705130
    [No Abstract]   [Full Text] [Related]  

  • 54. Familial dopa-responsive cervical dystonia.
    Schneider SA; Mohire MD; Trender-Gerhard I; Asmus F; Sweeney M; Davis M; Gasser T; Wood NW; Bhatia KP
    Neurology; 2006 Feb; 66(4):599-601. PubMed ID: 16505323
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
    Abeling NG; Duran M; Bakker HD; Stroomer L; Thöny B; Blau N; Booij J; Poll-The BT
    Mol Genet Metab; 2006; 89(1-2):116-20. PubMed ID: 16650784
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.
    Kim W; Cho JS; Shim YK; Ko YJ; Choi SA; Kim SY; Kim H; Lim BC; Hwang H; Choi J; Kim KJ; Kim MJ; Seong MW; Chae JH
    Brain Dev; 2021 Aug; 43(7):759-767. PubMed ID: 33875303
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.
    Neville BG; Parascandalo R; Farrugia R; Felice A
    Brain; 2005 Oct; 128(Pt 10):2291-6. PubMed ID: 16049044
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Hypokinetic-rigid syndrome in children and inborn errors of metabolism.
    García-Cazorla A; Ortez C; Pérez-Dueñas B; Serrano M; Pineda M; Campistol J; Fernández-Álvarez E
    Eur J Paediatr Neurol; 2011 Jul; 15(4):295-302. PubMed ID: 21612960
    [TBL] [Abstract][Full Text] [Related]  

  • 59. A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.
    Ogawa A; Kanazawa M; Takayanagi M; Kitani Y; Shintaku H; Kohno Y
    Brain Dev; 2008 Jan; 30(1):82-5. PubMed ID: 17590551
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
    Ye J; Liu XQ; Qiu WJ; Han LS; Zhou JD; Zhang YF; Gu XF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):210-2. PubMed ID: 17407085
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.