Benign Tremulous Parkinsonism
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Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Degenerative Diseases of the Nervous System, Parkinson Disease
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Dopamine-Responsive Dystonia
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Subclinical Dopaminergic Dysfunction in Asymptomatic Parkinson's Disease Patients' Relatives with a Decreased Sense of Smell
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Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
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Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
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Restless Legs Syndrome:Clinicoetiologic Correlates
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A Greek-American Kindred with Autosomal Dominant, Levodopa-Responsive Parkinsonism and Anticipation
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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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
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Cranial Cavernous Malformations
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Essential Tremor
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Vascular Malformations of the Central Nervous System
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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A Case of Refractory Nocturnal Seizures
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Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson 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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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Family History of Melanoma and Parkinson Disease Risk
Neurol 73:1286-1291, Gao,X.,et al, 2009
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
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Seizures on Hearing the Alarm Clock
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Familial Dopa-Responsive Cervical Dystonia
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Restless Legs Syndrome: Is Treatable But Under-Recognised
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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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
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The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
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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
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Familial Dementia With Lewy Bodies
Arch Neurol 59:1622-1630, Tsuang,D.W.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
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Hereditary Form of Parkinsonism-Dementia
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Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
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Familial Nature and Continuing Morbidity of the Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex of Guam
Neurol 49:400-409, McGeer,P.L.,et al, 1997
A Gene for Parkinson Disease
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Olfactory Dysfunction in Familial Parkinsonism
Neurol 49:1262-1267, Markopoulou,K.,et al, 1997
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Clinical Genetic Analysis of Parkinson's Disease in the Contursi Kindred
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