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
Immunoglobulin G4-Related Disease of the Orbit: Imaging Features in 27 Patients
AJNR 35:1393-1397, Tiegs-Heiden, C.A.,et al, 2014
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 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
Neuropsychiatric Changes Precede Classic Motor Symptoms in ALS and Do Not Affect Survival
Neurol 82:149-155, Mioshi, E.,et al, 2014
Diagnosis and Management of Marchiafava-Bignami Disease: A Review of CT/MRI Confirmed Cases
JNNP 85:168-173, Hillborn, M.,et al, 2014
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
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
Bilateral Cranial Hemophilic Pseudotumors
Neurol 82:638-639, Zhang, Z.,et al, 2014
Clinical Case Conference: A 41-Year-Old Woman with Progressive Weakness and Sensory Loss
Ann Neurol 75:9-19, Stephen, C.D.,et al, 2014
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
On-Road Driving Impairments in Huntingtons Disease
Neurol 82:956-962, Devos, H.,et al, 2014
A 14-Year-Boy with Spells of Somnolence and Cognitive Changes
Neurol 82:e142-e146, de Gusmao, C.M.,et al, 2014
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
Central Nervous System Manifestation of IgG4-Related Disease
JAMA Neurol 71:767-770, Regrev, K.,et al, 2014
Copper Deficiency Clinical Case Conference: In Defense of Checklists
Ann Neurol 75:799, Finelli, P.F. & McCabe, A.L., 2014
Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
Cognitive Deterioration in Bilateral Asymptomatic Severe Carotid Stenosis
Stroke 45:2072-2077, Buratti, L.,et al, 2014
IgG4-Related Hypertrophic Pachymeningitis
JAMA Neurol 71:785-793, Lu, L.X.,et al, 2014
Proton Pump Inhibitor and Histamine 2 Receptor Antagonist Use and Vitamin B12 Deficiency
JAMA 310:2435-2442, Lam, J.R.,et al, 2013
Frontotemporal Dementia
BMJ 347:f4827, Warren, J.D.,et al, 2013
IgG4-Related Orbital Disease and Enlargement of the Trigeminal Nerve Branches
Neurol 81:e117-e118, Deschamps, R.,et al, 2013
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome
JAMA Neurol 70:1440-1444, Leen, W.G.,et al, 2013
Differential Diagnosis of a Low CSF Glucose in Children and Young Adults
Neurol 81:e178-e181, Leen, W.G.,et al, 2013
Association Between Maternal Use of Folic Acid Supplements and Risk of Autism Spectrum Disorders in Children
JAMA 309:570-577, Suren, P.,et al, 2013
Clinical Reasoning: A 12-year-old Boy with Ascending Weakness
Neurol 80:e110-ee114, French, K.F.,et al, 2013
A Man with Tingling Fingers
BMJ 346:f1443, Larkman, M.,et al, 2013
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
IgG4-Related Disease and Hypertrophic Pachymeningitis
Medicine 92:206-216, Wallace, Z.,et al, 2013
Autism and Mental Retardation among Offspring born after In Vitro Fertilization
JAMA 310:75-84, Sandin, S.,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
Granulomatous Meningitis due to Rheumatoid Arthritis
Acta Neurol Belg 112:193-197, Duray, M.C.,et al, 2012
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Effects of Fetal Antiepileptic Drug Exposure
Neurol 78:1207-1214, Meador,K.J.,et al, 2012
Clinicalpathologic Conference, Vitamin B12 Deficiency due to Pernicious Anemia
NEJM 366:1626-1633, Case 13-2012, 2012
Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
Neurol 78: e126, Shah, S.,et al, 2012
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
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012