Inherited Metabolic Diseases of the Nervous System, Fabry Disease
Adams & Victors Principles of Neurology, Chp 37, pg 991, 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
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
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
Vitamin B12 Deficiency Causing Night Sweats
Scott Med J 59:e8-e11, Rehman,H.U., 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
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
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
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
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