A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Delayed Diagnosis of Juvenile Myoclonic Epilepsy
JNNP 55:497-499, Grunewald,R.A.,et al, 1992
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Clinicopathologic Conference, Factitious Disorder
NEJM 388:1609-1615, Case 13-2023, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Functional Neurological Disorders
Neurologist 27:276-289, Mishra, A. & Pandey, S., 2022
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
Clinicopathological Conference, Insulinoma
NEJM 379:376-384, Case 23-2018, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Late onset autism and anti-NMDA-receptor encephalitis
Lancet 378:98;378, Creten, C.,et al, 2011
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Voltage-Gated Potassium Channel Autoimmunity Mimicking Creutzfeldt-Jakob Disease
Arch Neurol 65:1341-1346, Geschwind,M.D.,et al, 2008
Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
Neurol 69:586-595, Fertleman,C.R.,et al, 2007
Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
The Neurological Masquerade of Intravascular Lymphomatosis
Arch Neurol 59:439-443, Beristain,X.&Azzarelli,B., 2002
De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Hashimoto's Encephalitis as a Differential Diagnosis of Creutzfeldt-Jakob Disease
JNNP 66:172-176, Seipelt,M.,et al, 1999
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
Neurol 48:119-125, Litvan,I.,et al, 1997
A Woman with a Relapsing Psychosis Who Got Better with Prednisone
Lancet 347:1288, Cohen,L.,et al, 1996
Panic Attacks and Panic Disorder:The Great Neurologic Imposters
Semin Neurol 15:126-132, Stahl,S.M.&Soefje,S., 1995
Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
Long-Term Therapeutic Management of Epilepsy
Ann Int Med 120:411-422, French,J., 1994
Fatal Rabies Associated with Extensive Demyelination
Arch Neurol 50:317-323, Nelson,D.A.&Berry,R.G., 1993
Juvenile Myoclonic Epilepsy
Arch Neurol 50:594-598, Grunewald,R.A.&Panayiotopoulos,C.P., 1993
Recurrent Encephalopathy and Seizures in a US Native with HTLV-I-Associated Myelopathy/Tropical Spastic Paraparesis
Neurol 42:658-661, Smith,C.R.,et al, 1992
Drug Induced Creutzfeldt-Jakob Like Syndrome
J Psychiatr Neurosci 17:103-105, Finelli,P.F., 1992
Typical Absence Seizures in Adults:Clinical, EEG, Video-EEG Findings & Diagnostic/Syndr Consider
JNNP 55:1002-1008, Panayiotopoulos,C.P.,et al, 1992
Chronic Progressive Spinobulbar Spasticity, A Rare Form of Primary Lateral Sclerosis
Arch Neurol 45:509-513, Gastaut,J.L.,et al, 1988
Unilateral Primary Angiitis of the Central Nervous System: A Rare and Under-Recognized Entity
AJNR 47:589-595, Rai,P.,et al, 2026
Clinicopathologic conference, Malignant Mixed Germ-Cell Tumor and Anti-NMDA Receptor Encephalitis
NEJM 303:488-496, Case 22-2025, 2025
Myelin Oligodendrocyte Glycoprotein Antibody - Associated Cerebral Cortical Encephalitis: A Case Report Highlighting Diagnostic Challenges and Therapeutic Implications
Front Immunol 16:1619807, Liu,M. & Li, D., 2025
High-Grade Gliomas with Autoimmune Encephalitis-Like Presentation: Case Report and Systematic Review of the Literature
Neurological Sci 46:3559-3572, Creda,G.S.et al, 2025
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024
Tumour-Like Mass Lesion Secondary to Primary CNS Vasculitis
Neurol 103:e209819, Roberts,J.I.,et al, 2024
Autoimmune Encephalitis Misdiagnosis in Adults
JAMA Neurol 80:30-39, Flanagan,E.P.,et al, 2023