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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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The Phenotypic Continuum of ATP1A3-Related Disorders
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MedLink Neurology, July, Comi, A.M., 2013
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UptoDate (May), Bodamer,O.A., 2008
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eMedicine (December), Arnold,G.L., 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
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Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Startle Provoked Epileptic Seizures:Features in 19 Patients
JNNP 61:151-156, Manford,M.R.A.,et al, 1996
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Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Spectrum of Intracranial Hemorrhages in Cerebral Venous Thrombosis, A Pictorial Case Series and Review of Pathophysiology and Management
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The Spectrum of Fragile X Disorders
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Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
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
Neurol 103:e209844, Dhawan,A.,et al, 2024
Posterior Reversible Encephalopathy Syndrome
NEJM 388:2171-2178, Geocadin,R.G., 2023
Unpacking the CNS Manifestations of Epstein-Barr Virus:An Imaging Perspective
AJNR 44:1002-1008, Soni,N.,et al, 2023
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Clinical Manifestations and Diagnosis of Listeria Monocytogenes Infection
UptoDate Aug, Gelfand, M.S.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
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Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Vagus Nerve Stimulation and Seizure Outcomes in Pediatric Refractory Epilepsy
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
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BMJ 368:L7012, Fox, H.,et al, 2020
Reversible Cerebral Vasoconstriction Syndrome
Stroke 50:2253-2258, Burton, T.M. & Bushnell, C.D., 2019
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www.UptoDate.com, June, Singhal, A., 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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JAMA 319:1362-1374, Wachman, E.,et al, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
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NEJM 378:1802-1810, Haubenberger, D.,et al, 2018
Congenital Myasthenic Syndromes in Adult Neurology Clinic
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Neuromyelitis Optica Spectrum Disorders
UpToDate, May, Glisson,C.C., 2016
Zika Virus: An Emergent Neuropathological Agent
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Neonatal Abstinence Syndrome
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