Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
暂无分享,去创建一个
K P Bhatia | N W Wood | I Trender-Gerhard | M G Sweeney | P Schwingenschuh | P Mir | M J Edwards | A Gerhard | J M Polke | M G Hanna | M B Davis | M. Edwards | K. Bhatia | N. Wood | M. Davis | P. Schwingenschuh | M. Hanna | A. Gerhard | I. Trender-Gerhard | M. Sweeney | P. Mir | J. Polke | I. Trender‐Gerhard
[1] C. Lam,et al. Atypical presentation of dopa-responsive dystonia , 2001, Neurology.
[2] M. Filipenko,et al. Estrogen-triggered activation of GTP cyclohydrolase 1 gene expression: Role of estrogen receptor subtypes and interaction with cyclic AMP , 2006, Neuroscience.
[3] N. Nishiyama,et al. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease) , 2003, Annals of neurology.
[4] J. Steyaert,et al. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency , 2005, Journal of Neurology, Neurosurgery & Psychiatry.
[5] S. Kish,et al. Dopa‐responsive dystonia: Recent advances and remaining issues to be addressed , 1999, Movement disorders : official journal of the Movement Disorder Society.
[6] F. Cardona,et al. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. , 2002, Neurology.
[7] M. Segawa. Hereditary progressive dystonia with marked diurnal fluctuation , 2000, Brain and Development.
[8] M. Nitschke,et al. 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 , 1998, Journal of neurology, neurosurgery, and psychiatry.
[9] S. Tsuji,et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene , 1994, Nature Genetics.
[10] Y. Furukawa. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss. , 2003, Advances in neurology.
[11] H. Topka,et al. Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of l-dopa , 2000, Neurology.
[12] D. Regier,et al. Revised prevalence estimates of mental disorders in the United States: using a clinical significance criterion to reconcile 2 surveys' estimates. , 2002, Archives of general psychiatry.
[13] S. Udenfriend. B. TYROSINE HYDROXYLASE , 1966 .
[14] N. Delanty,et al. Broadening the phenotype of childhood-onset dopa-responsive dystonia. , 2006, Archives of neurology.
[15] R. Surtees,et al. GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness , 1999, Journal of neurology, neurosurgery, and psychiatry.
[16] S. Kaufman. Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine. , 1959, The Journal of biological chemistry.
[17] S. Fahn,et al. Long‐term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa‐responsive dystonia , 1992, Annals of neurology.
[18] M. Hallett,et al. Clinical and genetic analysis of progressive dystonia with diurnal variation. , 1991, Archives of neurology.
[19] N. Blau,et al. BIOMDB : Database of Mutations Causing Tetrahydrobiopterin Deficiencies , 2005 .
[20] T. Nygaard. Dopa-responsive dystonia : clinical characteristics and definition , 1993 .
[21] G. Deuschl,et al. Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion , 1997, Neurogenetics.
[22] S. Udenfriend,et al. TYROSINE HYDROXYLASE. THE INITIAL STEP IN NOREPINEPHRINE BIOSYNTHESIS. , 1964, The Journal of biological chemistry.
[23] H. Meinck,et al. Adult‐onset dystonia: Atypical manifestation of Segawa disease , 2007, Movement disorders : official journal of the Movement Disorder Society.
[24] S. Bressman,et al. High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening , 2005, Neurology.
[25] Richard P Allen,et al. Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health. , 2003, Sleep medicine.
[26] M. Shimoji,et al. GTP Cyclohydrolase I Gene Expression in the Brains of Male and Female hph‐1 Mice , 1999, Journal of neurochemistry.
[27] J. Kira,et al. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene , 2006, Clinical Neurology and Neurosurgery.
[28] N. Blau,et al. A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping , 2001, Journal of Inherited Metabolic Disease.
[29] N. Blau,et al. Characterization of Mouse and Human GTP Cyclohydrolase I Genes , 1995, The Journal of Biological Chemistry.
[30] Y. Agid,et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? , 2000, Brain : a journal of neurology.
[31] Y. Furukawa. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. , 2004, Advances in neurology.
[32] C. Marsden,et al. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. , 1996, Human molecular genetics.
[33] S. Kish,et al. Dystonia with motor delay in compound heterozygotes for GTP‐cyclohydrolase I gene mutations , 1998, Annals of neurology.
[34] E. Halpern,et al. Diagnostic evaluation of patients with a brain mass as the presenting manifestation of cancer , 2005, Neurology.
[35] L. Regeur,et al. Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? , 2006, Movement disorders : official journal of the Movement Disorder Society.
[36] N. Nishiyama,et al. Dystonias responding to levodopa and failure in biopterin metabolism. , 1998, Advances in neurology.
[37] B. Dworniczak,et al. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome , 2004, Human Genetics.
[38] C. Marsden,et al. Dopa‐responsive dystonia: A clinical and molecular genetic study , 1998, Annals of neurology.