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The DYT1 Phenotype and Guidelines for Diagnostic Testing
Neurol 54:1746-1753,1718, Bressman,S.B.,et al, 2000

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021

National Institute of Neurological Disorders and Stroke Consensus Diagnostic Criteria for Traumatic Encephalopathy Syndrome
Neurol 96:848-863, Katz, D.I.,et al, 2021

Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020

Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020

Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019

Evaluation of Idiopathic Transverse Myelitis Revealing Specific Myelopathy Diagnoses
Neurol 90:e96-102, Zalewski, N.L.,et al, 2018

Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
Lancet: 389:538-546,483, Griffiths, P.D.,et al, 2017

A Clinical Approach to the Diagnosis of Traumatic Encephalopathy Syndrome
JAMA Neurol 73:743-749, Reams, N.,et al, 2016

Differentiation Between Traumatic Tap and Aneurysmal Subarachnoid Hemorrhage: Prospective Cohort Study
BMJ 350:h568, Perry, J.J.,et al, 2015

Cervical Arterial Dissections and Association with Cervical Manipulative Therapy
Stroke 45:3156-3174, Biller, J.,et al, 2014

Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013

Summary of Evidence-Based Guideline Update: Evaluation and Management of Concussion in Sports
Neurol 80:2250-2257, Giza, C.,et al, 2013

Clinicopathologic Conference, Blind and Confused, Neuromyelitis Optica Spectrum Disorder
JAMA Neurol 70:932-936, Sharma, V.,et al, 2013

Differential Features of Carotid and Vertebral Artery Dissections
Neurol 77:1174-1181, Debette, S.,et al, 2011

Dysexecutive Syndrome: Diagnostic Criteria and Validation Study
Ann Neurol 68:855-864, Godefroy,O.,et al, 2010

Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009

Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Sports-Related Internal Carotid Artery Dissection: Pathogenesis and Therapeutic Point of View
The Neurologist 14:307-311, Dharmasaroja,P. &Dharmasaroja,P., 2008

Cervical Spondylosis and Neck Pain
BMJ 334:527-531, Binder,A.I., 2007

The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006

Thrombosis of the Cerebral VEins and Sinuses
NEJM 352:1791-1798, Stam,J., 2005

Cervical Radiculopathy
NEJM 353:392-399, Carette,S. &Fehlings,M.G., 2005

Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005

Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

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

Nuclear Medicine in Neurology and Psychiatry
Lancet 354:1107-1111, Costa,D.C.,et al, 1999

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998

The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998

The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Genetic Testing for Alzheimer Disease, Practical and Ethical Issues
Arch Neurol 54:1226-1229, Roses,A.D., 1997

Apolipoprotein E Genotyping in Alzheimer's Disease
Lancet 347:1091-1095, Tanzi,R.,et al, 1996

Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996

Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
JAMA 274:1627-1629, Farrer,L.A.,et al, 1995

Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994

A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994

Medical Aspects of the Persistent Vegetative State
NEJM 330:1499-1508, 1572-15791994., Annas,G.J.,et al, 1994

The DNA Laboratory and Neurolgoical Practice
JNNP 56:229-233, Harding,A., 1993

Shaken Baby Syndrome:Inflicted Cerebral Trauma
Pediatrics 92:872-875, Krugman,R.D.,et al, 1993



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