Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Updates on Sturge-Weber Syndrome
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The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Subcortical Heterotopia:A Distinct Clinicoradiologic Entity
AJNR 17:1315-1322, Barkovich,A.J., 1996
Withdrawal of Antiepileptic Medication in Children-Effects of Congit Funct Multicenter Holmfrid Study
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A Clinical Study of Noonan Syndrome
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The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Sturge-Weber Syndrome
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
CLOVES Syndrome
Neurol 96:e1487-e1488, Collins, M.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Characteristics in Limbic Encephalitis with Anti-Adenylate Kinase 5 Autoantibodies
Neurol 88:514-524,508, Do, L. & Chanson, E., 2017
An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016
Mystery Case: A Young Boy with Myoclonic Jerks
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Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Neuropsychological Consequences of Posteroventral Pallidotomy for the Treatment of Parkinson's Disease
Neurol 51:207-215, Trepanier,L.L.,et al, 1998
Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
Neurol 48:119-125, Litvan,I.,et al, 1997
Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997
Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
Neurol 44:399-405, Pettee,A.D.,et al, 1994
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
Neonatal Seizures
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Outcome of Neonatal Strokes
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The Lennox-Gastaut Syndrome:Metabolic Subtypes Determined by FDG Positron Emission Tomography
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Pediatric Neurology
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Cancer-Related Cognitive Impairment in Patients with Lung Cancer
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Acute and Progressive Cognitive Decline in a 38-Year-Old Man
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
MR Imaging Findings in Anti-Leucine-Rich Glioma Inactivated Protein 1 Encephalitis:A Systematic Review and Meta-Analysis
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Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019
Neurological Manifestations Among US Government Personnel Reporting Directional Audible and Sensory Phenomena in Havana, Cuba
JAMA 319:1125-1133, 1098, 1079, Swanson, R.L.,et al, 2018
Diagnosis and Management of the Antiphospholipid Syndrome
NEJM 378:2010-2021, Garcia, D. & Erkan, D., 2018