A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Cranial Cavernous Malformations
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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, 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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Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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Benign Tremulous Parkinsonism
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Dopamine-Responsive Dystonia
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The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004
Familial Dementia With Lewy Bodies
Arch Neurol 59:1622-1630, Tsuang,D.W.,et al, 2002
Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001
Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Brain Tumors
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Vascular Malformations of the Central Nervous System
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
Essential Tremor
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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A Case of Refractory Nocturnal Seizures
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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Extending the KCNQ2 encephalopathy Spectrum
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An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
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Family History of Melanoma and Parkinson Disease Risk
Neurol 73:1286-1291, Gao,X.,et al, 2009
Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
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Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007
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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Pathogenetic Mechanisms of Parkin in Parkinson's Disease
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Primary Brain Tumours in Adults
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Alzheimer's Disease and Parkinson's Disease
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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
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
Clin Inf Dis 30:336-341, Lamas, C.C. & Eykyn, S.J., 2000
Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
Hereditary Form of Parkinsonism-Dementia
Ann Neurol 43:768-781, Muenter,M.D.,et al, 1998
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997
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