Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Clinicopath Conf
Granulomatous Angiitis of CNS, Case 33-1995, NEJM 333:1135-1143995., , 1995
McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
Clinicopathologic Conference, Mycobacterium Tuberculosis Meningitis
NEJM 384:166-176, Case 1-2021, 2021
Clinicopathologic Conference, LGI1 autoimmune encephalitis
NEJM 382:1943-1950, Case 15-2020, 2020
Clinicopathologic Conference, Borrelia Miyamotoi Infection
NEJM 383:1578-1586, Case 32-2020, 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Dialysis Disequilibrium Syndrome
The Kidney 2020, Yeun, J.Y.,et al, 2020
A 23-Year-Old Man with Headaches, Confusion, and Lower Extremity Weakness
Neurol 92:863-867, Patel, N.M.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Reversible Cerebral Vasoconstriciton Syndrome
www.UptoDate.com, June, Singhal, A., 2019
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
Severe Acute Hyponatremia as an Initial Presentation of Acute Intermittent Porphyria Triggered by a Subdermal Etonogestrel Implant
J Nephrol Renal Ther 2:1-4, Valente, J.R.,et al, 2016
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Risk Factors of Hyperammonemia in Patients with Epilepsy Under Valproic Acid Therapy
Medicine 93:e66, Tseng, Y.L.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Dialysis Disequilibrium Syndrome
Adams & Victors Principles of Neurology Chp 40, pg 1146, Ropper, A.H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Progressive Rubella Panencephalitis
Adams & Victors Principles of Neurology, Chp 33, pg 766, Ropper, A.H.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Carcinomatous Meningitis
Adams & Victors Principles of Neurology, Chp 31, pg 662, Ropper, A.H.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Intravascular Lymphoma
Adams & Victors Principles of Neurology, Chp 31, pg 663, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
Adams & Victors Principles of Neurology, Chp 37, pg 959, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
A 62-Yeal-Old Man with Fluctuating Neurological Deficits and Skin Lesions
JAMA Neurol 70:120-124, Konikkara, J.,et al, 2013
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
MELAS
MedLink.com, August, Klopstock, T., 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Clinicopath Conf, Multiple Bilateral Cerebral Infarcts with Intracerebral Hemorrhage in Reversible Cerebral Vasoconstrictive Syndrome
NEJM 360:1126-1137, Case 8-2009, 2009
Carbon Monoxide Poisoning
NEJM 360:1217-1225, Weaver,L.K., 2009
Clinicopath Conf, Neuro-Behcets Disease
NEJM 360:2341-2351, Case 17-2009, 2009
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Altered Mental Status After a Marathon
NEJM 352:1613-1614, Goudie,A.M.,et al, 2005
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
Neurologic Manifestations in Primary Sjogren Syndrome: A Study of 82 Patients
Medicine 83:280-291, Delalande,S.,et al, 2004
Antivonvulsants for Creutzfeldt-Jakob Disease?
Lancet 361:224, Fioel,A.,et al, 2003
Exercise-Induced Temporal Lobe Epilepsy
Neurol 59:1246-1248, Sturm,J.W.,et al, 2002
Use of Aspirin, Epistaxis, and Untreated Hypertension as Risk Factors for Primary Intracerebral Hemorrhage in Middle-Aged and Elderly People
Stroke 32:399-404, Saloheimo,P.,et al, 2001
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
A 35-Year-Old Bricklayer with Hemimyoclonic Jerks
Lancet 351:1926, Grunewald,T.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Headache Characteristics in Subarachnoid Haemorrhage and Benign Thunderclap headache
JNNP 65:791-793, Linn,F.H.H.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Analysis of Prenatal and Gestational Care Given to Women with Epilepsy
Neurol 51:1039-1045, Seale,C.G.,et al, 1998
Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
Neurol 51:944-948, Rpt of the Quality Stnds Subcmte AAN, 1998
Epidemiology, Pathophysiology, & Management of Hyponatremic Encephalopathy
Am J Med 102:67-77, Fraser,C.L.,et al, 1997
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Cytomegalovirus Encephalitis
Ann Int Med 125:577-578, Arribas,J.R.,et al, 1996