Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 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
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Diagnostic Criteria for Rett Syndrome
The Rett Syndrome Diagnostic Criteria Work Group, Ann Neurol 23:425-4281988., , 1988
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
Neurol 29:1057-1061, Markesbery,Wm.R., 1979
Germinoma of third Ventricle (Case Record of MGH)
NEJM 293:653, Locke,S.,et al, 1975
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Clinical Study of Nine Patients with ReNU Syndrome
, Okamoto,N.,et al,
Clinicopathologic Conference, Subacute Painless Thyroiditis
NEJM 393:2036-2045, Quijije,N.V.,et al, 2025
Paraneoplastic Calmodulin Kinase-Like Vesicle-Associated Protein (CAMKV) Autoimmune Encephalitis
Ann Neurol 96:21-33, Gilligan,M.,et al, 2024
Dura Mater Thickening and Enhancement in Anti-NMDAR Encephalitis
Neurol 99:628-629, Xia, C. & Chen, H.S., 2022
Clinicopathologic Conference, Mycobacterium Tuberculosis Meningitis
NEJM 384:166-176, Case 1-2021, 2021
Pyogenic Brain Abscesses in a Patient with Digital Clubbing
JAMA Neurol 77:129-130, Paliwal, V.K.,et al, 2020
Clinicopathologic Conference, Borrelia Miyamotoi Infection
NEJM 383:1578-1586, Case 32-2020, 2020
A 23-Year-Old Man with Headaches, Confusion, and Lower Extremity Weakness
Neurol 92:863-867, Patel, N.M.,et al, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Encephalitis with mGluR5 antibodies
Neurol 90:e1964-e1972, Spatola, M.,et al, 2018
Behcet Disease
emedicine.medscape.com Dec, Davey-Ranasinghe, N. & Diamond, H.S., 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Investigations in GABA? Receptor Antibody-Associated Encephalitis
Neurol 88:1012-1020,1010, Spatola, M.,et al, 2017
Autoimmune Encephalitis: Pathophysiology and Imaging Review of an Overlooked Diagnosis
AJNR 38:1070-1078, Kelley, B.P.,et al, 2017
An Older Man with Memory Impairment and Convulsions
BMJ 358:J2824, Zhao, X.,et al, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Bilateral Hippocampal Restricted Diffusion:Same Picture Many Causes
J Neuroimaging 27:300-305, Bhattacharyya,S.,et al, 2017
Human Neurexin-3a Antibodies Associate with Encephalitis and Alter Synapse Development
Neurol 86:2235-2242,2222, Gresa-Arribas, N.,et al, 2016
Anti-LGI1 Encephalitis
Neurol 87:1449-1456,1428, Van Sonderen, A.,et al, 2016
Spectrum of Imaging Appearances of Intracranial Cryptococcal Infection in HIV/AIDS Patients in the Anti-Retroviral Therapy Era
Clin Radiol 71:9-17, Offiah, C.E. & Naseer, A., 2016
NMDA-Receptor Encephalitis
DynaMed Plus Sept 2016, Rae-Grant, A.,et al, 2016
A 57-Year-Old Woman Who Developed Acute Amnesia Following Fever and Upper Respiratory Symptoms
Neurol 84:e102-e106, McCray, B.A.,et al, 2015
Clinical Spectrum of Encephalitis Associated with Antibodies Againts the a-Amino-3-Hydroxy-5-Methyl-4-Isoxazoleproprionic Acid Receptor
JAMA Neurol 72:1163-1169, Joubert, B.,et al, 2015
Recognizing Autoimmune-Mediated Encephalitis in the Differential Diagnosis of Limbic Disorders
AJNR 36:2196-2205, da Rocha, A.J.,et al, 2015
Clinical and Immunological Features of Limbic Form of Hashimotos Encephalopathy
Neurol 84:Suppl P4.045, Kishitani, T.,et al, 2015
Pathognomonic Seizures in Limbic Encephalitis Associated with Anti-LGl1 antibodies
Lancet 383:2018, Sen, A.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Carbon Monoxide Poisoning
Adams & Victors Principles of Neurology Chp 40, pg 1138, Ropper, A.H.,et al, 2014
Encephalitis and GABAb Receptor Antibodies
Neurol 81:1500-1506, H�ftberger, R.,et al, 2013