A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Hereditary Dystonia-Parkinsonism Syndrome of Juvenile Onset
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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Huntington Disease: Clinical Features and Diagnosis
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Aicardi-Gouti�res Syndrome
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Update on Blepharospasm: Report from the BEBRF International Workshop
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Mental Retardation
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Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
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Niemann-Pick Disease Type C: Two Cases and an Update
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Presynaptic Dopaminergic Deficits in Lesch-Nyhan Disease
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
A Greek-American Kindred with Autosomal Dominant, Levodopa-Responsive Parkinsonism and Anticipation
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Essential Tremor:Clinical Correlates in 350 Patients
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A Genetic Study of Idiopathic Focal Dystonias
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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The Phenotype of the X-Linked Dystonia-Parkinsonism Syndrome, An Assessment of 42 Cases in the Philippines
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990
The Triumph of Linkage Analysis, Editorial
Ann Neurol 27:111-113, Rosenberg,R.N., 1990
A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
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Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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