Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 6-Year-Old Girl with Progressive Toe Walking
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Dopa-Responsive Dystonia Revisited
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Sjogren Syndrome: Neurologic Complications
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Familial Dopa-Responsive Cervical Dystonia
Neurol 66:599-601, Schneider,S.A.,et al, 2006
Dopa-responsive Dystonic Camptocormia
Neurol 66:1779, Van Gerpen,J.A., 2006
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Dopamine-Responsive Dystonia
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Mental Retardation
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The DYT1 Phenotype and Guidelines for Diagnostic Testing
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Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
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Long-Term Follow-Up of Levodopa Responsiveness in Generalized Dystonia
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995
Dopa-Responsive Dystonia:Pathological and Biochemical Observations in a Case
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Comparison of Striatal 18F-dopa Uptake in Adult-Onset Dystonia-Parkinsonism, Parkinson's & Dopa-Responsive Dystonia
Neurol 43:1563-1568, Turjanski,N.,et al, 1993
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
The Sit-up Test:An Alternative Clinical Test for Evaluating Pediatric Torticollis
Pediatrics 90:612-615, Caputo,A.R.,et al, 1992
Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Diagnostic Tests for Choreoacanthocytosis
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Cervical Dystonia:Clinical Findings and Associated Movement Disorders
Neurol 41:1088-1091, Jankovic,J.,et al, 1991
The Phenotype of the X-Linked Dystonia-Parkinsonism Syndrome, An Assessment of 42 Cases in the Philippines
Medicine 70:179-187, Lee,J.V.,et al, 1991
Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
Neurol 40:66-69, Nygaard,T.G.,et al, 1990
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Life-Threatening Cranial Dystonia Following Trihexyphenidyl Withdrawal
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Antecollis in Parkinsonism
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Hereditary Dystonia-Parkinsonism Syndrome of Juvenile Onset
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Progressive Supranuclear Palsy-Case Study
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