Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Diagnostic Guidelines in Central Nervous System Whipple's Disease
Ann Neurol 40:561-568, Louis,E.D.,et al, 1996
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
Cureus doi:10.7759/cureus 29225, Pelling,M.M., et al, 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
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
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
Subacute Progressive Ptosis, Ophthalmoplegia, Gait Instability, and Cognitive Changes
JAMA Neurol 75:1284-1285, Lin, J.,et al, 2018
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017
A 54-year-old woman with Dementia, Myoclonus, and Ataxia
Neurol 89:e7-e12, Ali, F.,et al, 2017
An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016
Reversible Cognitive Decline Diagnosed on Ear Examination
BMJ 352:e1215, Ellis, R.J.B.,et al, 2016
Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014
IgG4-Related Leptomeningitis: A Reversible Cause of Rapidly Progressive Cognitive Decline
Neurol 82:540-542, Mehta, S.H.,et al, 2014
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
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
Immunotherapy-Responsive Chorea as the Presenting Feature of LGI1-Antibody Encephalitis
Neurol 79:195-196, Tofaris,G.K.,et al, 2012
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Frequency, Characteristics, and Risk Factors for Amiodarone Neurotoxicity
Arch Neurol 66:865-869, Orr,C.F. &Ahlskog,E., 2009
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
Neurol 67:480-484, Mercimek-Mahmutoglu,S.,et al, 2006
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Agenesis of the Corpus Callosum:A United Kingdom Series of 56 Cases
JNNP 64:131-134, Taylor,M.&David,A.S., 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
Clinicopath Conf
Focal Cortical Dysplasia, Case 7-1996, NEJM 334:586-592996., , 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Subcortical Heterotopia:A Distinct Clinicoradiologic Entity
AJNR 17:1315-1322, Barkovich,A.J., 1996
Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
Neurol 44:399-405, Pettee,A.D.,et al, 1994
Primary Brain Tumors:Review of Etiology Diagnosis and Treatment
Am Fam Physician 49:787-797, Newton,H.B., 1994