Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
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Cranial Cavernous Malformations
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Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Paroxysmal Kinesigenic Dyskinesia
Neurol 85:1546-1553, Huang, X.J.,et al, 2015
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Degenerative Diseases of the Nervous System, Alzheimer Disease
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Sturge-Weber Syndrome
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Clinical Update:Diagnosis and Treatment of Essential Tremor
Lancet 369:1152-1154, Benito-Leon,J&Louis,E.D., 2007
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Angelman Syndrome Revisited
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Phenylketonuria
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
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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
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Panic Attacks and Panic Disorder:The Great Neurologic Imposters
Semin Neurol 15:126-132, Stahl,S.M.&Soefje,S., 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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The Relationship of Essential Tremor to Other Movement Disorders:Report on 678 Patients
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Familial Alzheimer's Disease
Ann Neurol 36:335-336, Bird,T.D., 1994
Neurological Involvement in Wegener's Granulomatosis:An Analysis of 324 Consecutive Pts at the Mayo Clin
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Wilson's Disease:Current Status
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Twinning and Neurologic Morbisity
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