A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Familial Dopa-Responsive Cervical Dystonia
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Dopamine-Responsive Dystonia
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Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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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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Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
Ann Neurol 46:176-182, Kramer,P.L.,et al, 1999
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
The Relationship of Essential Tremor to Other Movement Disorders:Report on 678 Patients
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Essential Tremor:Clinical Correlates in 350 Patients
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Vascular Malformations of the Central Nervous System
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016
Paroxysmal Kinesigenic Dyskinesia
Neurol 85:1546-1553, Huang, X.J.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Degenerative Diseases of the Nervous System, Olivopontocerebellar Atrophy
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
An unusual cause of stroke and hypoxia
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Family History of Melanoma and Parkinson Disease Risk
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Aicardi-Gouti�res Syndrome
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Extension of the Clinical Spectrum of Danon Disease
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Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
Benign Tremulous Parkinsonism
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Genetic Screening for a Single Common LRRK2 Mutation in Familial Parkinson's Disease
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Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004
Pathogenetic Mechanisms of Parkin in Parkinson's Disease
Lancet 364:722-724, Hattori,N. &Mizuno,Y., 2004
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003
Familial Dementia With Lewy Bodies
Arch Neurol 59:1622-1630, Tsuang,D.W.,et al, 2002
Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002
Subclinical Dopaminergic Dysfunction in Asymptomatic Parkinson's Disease Patients' Relatives with a Decreased Sense of Smell
Ann Neurol 50:34-41, Berendse,H.W.,et al, 2001
Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
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