相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia
Subhashie Wijemanne et al.
MOVEMENT DISORDERS CLINICAL PRACTICE (2015)
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
J. Koht et al.
ACTA NEUROLOGICA SCANDINAVICA (2014)
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
Niccolo E. Mencacci et al.
BRAIN (2014)
Clinical Spectrum of Dopa-Responsive Dystonia and Related Disorders
Woong-Woo Lee et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2014)
Screening for dopa-responsive dystonia in patients with scans without evidence of dopaminergic deficiency (SWEDD)
Anna De Rosa et al.
JOURNAL OF NEUROLOGY (2014)
Guidelines for investigating causality of sequence variants in human disease
D. G. MacArthur et al.
NATURE (2014)
Presynaptic dopamine depletion predicts levodopa-induced dyskinesia in de novo Parkinson disease
Jin Yong Hong et al.
NEUROLOGY (2014)
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia
Roberto Cilia et al.
NEUROLOGY (2014)
Non-motor phenotype of dopa-responsive dystonia and quality of life assessment
Norbert Brueggemann et al.
PARKINSONISM & RELATED DISORDERS (2014)
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia
Thomas Opladen et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency
Roser Pons et al.
MOVEMENT DISORDERS (2013)
Phenomenology and classification of dystonia: A consensus update
Alberto Albanese et al.
MOVEMENT DISORDERS (2013)
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia
Gavin Charlesworth et al.
NEUROLOGY (2013)
Dopa-Responsive Dystonia Is Caused by Particular Impairment of Nigrostriatal Dopamine Neurons Different from Those Involved in Parkinson Disease: Evidence Observed in Studies on Segawa Disease
Masaya Segawa et al.
NEUROPEDIATRICS (2013)
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yaping Yang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia
Jee-Young Lee et al.
PARKINSONISM & RELATED DISORDERS (2013)
New genetic insights highlight 'old' ideas on motor dysfunction in dystonia
Rose E. Goodchild et al.
TRENDS IN NEUROSCIENCES (2013)
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy
Jennifer Friedman et al.
ANNALS OF NEUROLOGY (2012)
Beneficial Prenatal Levodopa Therapy in Autosomal Recessive Guanosine Triphosphate Cyclohydrolase 1 Deficiency
Norbert Brueggemann et al.
ARCHIVES OF NEUROLOGY (2012)
Dopa-Responsive Dystonia Revisited Diagnostic Delay, Residual Signs, and Nonmotor Signs
Vera Tadic et al.
ARCHIVES OF NEUROLOGY (2012)
Guanine Triphosphate-Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia Presenting as Frequent Falling in 2 Children
Chang-Yong Tsao
JOURNAL OF CHILD NEUROLOGY (2012)
Child Neurology: Paroxysmal stiffening, upward gaze, and hypotonia Hallmarks of sepiapterin reductase deficiency
P. Dill et al.
NEUROLOGY (2012)
Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease
Eduardo Lopez-Laso et al.
PEDIATRIC NEUROLOGY (2012)
Expanding Phenotype and Clinical Analysis of Tyrosine Hydroxylase Deficiency
Wai-lan Yeung et al.
JOURNAL OF CHILD NEUROLOGY (2011)
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease
Eduardo Lopez-Laso et al.
JOURNAL OF NEUROLOGY (2011)
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes
Manju A. Kurian et al.
LANCET NEUROLOGY (2011)
The Association of Tourette Syndrome and Dopa-Responsive Dystonia
Toby C. Yaltho et al.
MOVEMENT DISORDERS (2011)
Clinical and Biochemical Characterization of Patients with Early Infantile Onset of Autosomal Recessive GTP Cyclohydrolase I Deficiency without Hyperphenylalaninemia
Thomas Opladen et al.
MOVEMENT DISORDERS (2011)
An Intragenic Duplication in Guanosine Triphosphate Cyclohydrolase-1 Gene in a Dopa-Responsive Dystonia Family
Helen Ling et al.
MOVEMENT DISORDERS (2011)
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
Luisa Arrabal et al.
NEUROGENETICS (2011)
CONTRIBUTION OF PRE-SYNAPTIC MECHANISMS TO L-DOPA-INDUCED DYSKINESIA
M. Carta et al.
NEUROSCIENCE (2011)
A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene
Sachiko Irie et al.
PARKINSONISM & RELATED DISORDERS (2011)
Whole-Genome Sequencing for Optimized Patient Management
Matthew N. Bainbridge et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
Michel A. Willemsen et al.
BRAIN (2010)
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
V. Leuzzi et al.
CLINICAL GENETICS (2010)
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency
Russell C. Dale et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Dystonia-plus syndromes
F. Asmus et al.
EUROPEAN JOURNAL OF NEUROLOGY (2010)
Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome
Chia-Ling Huang et al.
PARKINSONISM & RELATED DISORDERS (2010)
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
Fabienne Clot et al.
BRAIN (2009)
Disorders of biopterin metabolism
Nicola Longo
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
I. Trender-Gerhard et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)
Tyrosine hydroxylase deficiency with severe clinical course
D. I. Zafeiriou et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Infantile Hypokinetic-Hypotonic Syndrome due to Two Novel Mutations of the Tyrosine Hydroxylase Gene
Diane Doummar et al.
MOVEMENT DISORDERS (2009)
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families
Z-Y Wu et al.
CLINICAL GENETICS (2008)
Frequency of GCH1 deletions in dopa-responsive dystonia
B. Zirn et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms
Gabriella A. Horvath et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations
Mi-Sun Yum et al.
PEDIATRIC NEUROLOGY (2008)
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy:: Clinical, biochemical and genetic analysis
Marta Ribases et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification
Ana Djarmati et al.
MOVEMENT DISORDERS (2007)
Tyrosine hydroxylase deficiency presenting with a Biphasic Clinical Course
T. Giovanniello et al.
NEUROPEDIATRICS (2007)
Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency
Eduardo Lopez-Laso et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2007)
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
Daniela Steinberger et al.
NEUROGENETICS (2007)
Sepiapterin reductase deficiency:: Clinical presentation and evaluation of long-term therapy
Bernard Echenne et al.
PEDIATRIC NEUROLOGY (2006)
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
Beat Thoeny et al.
HUMAN MUTATION (2006)
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
Nico G. Abeling et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Galactorrhea - A strong clinical clue towards the diagnosis of neurotransmitter disease
WL Yeung et al.
BRAIN & DEVELOPMENT (2006)
Can the DCoHα isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?
JM Hevel et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
Lena Elisabeth Hjermind et al.
MOVEMENT DISORDERS (2006)
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
JLK Van Hove et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2006)
Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder
BGR Neville et al.
BRAIN (2005)
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections
K Diepold et al.
MOVEMENT DISORDERS (2005)
The metabolic pathology of dopa-responsive dystonia
K Asanuma et al.
ANNALS OF NEUROLOGY (2005)
High mutation rate in dopa-responsive dystonia:: Detection with comprehensive GCHI screening
J Hagenah et al.
NEUROLOGY (2005)
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations
Y Furukawa et al.
MOVEMENT DISORDERS (2004)
Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test
R Saunders-Pullman et al.
MOLECULAR GENETICS AND METABOLISM (2004)
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations
B Garavaglia et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family
E Wilder-Smith et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2003)
Dopa-responsive dystonia and Tourette syndrome in a large Danish family
A Romstad et al.
ARCHIVES OF NEUROLOGY (2003)
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency
N Nardocci et al.
NEUROLOGY (2003)
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)
M Segawa et al.
ANNALS OF NEUROLOGY (2003)
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
GF Hoffmann et al.
ANNALS OF NEUROLOGY (2003)
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
V Leuzzi et al.
NEUROLOGY (2002)
Atypical presentation of dopa-responsive dystonia: Generalized hypotonia and proximal weakness
CK Kong et al.
NEUROLOGY (2001)
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia:: Diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency
N Blau et al.
MOLECULAR GENETICS AND METABOLISM (2001)
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
L Bonafé et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene
H Hahn et al.
ARCHIVES OF NEUROLOGY (2001)
Dope-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations
Y Furukawa et al.
NEUROLOGY (2001)
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency
JF de Rijk-van Andel et al.
NEUROLOGY (2000)
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation
P De Lonlay et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)
Levodopa-responsive dystonia -: GTP cyclohydrolase I or parkin mutations?
J Tassin et al.
BRAIN (2000)
Four novel mutations in the Tyrosine Hydroxylase gene in patients with infantile parkinsonism
RJM Swaans et al.
ANNALS OF HUMAN GENETICS (2000)
分享论文
