Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
Lancet 381:125-132, Franz, D.,et al, 2013
Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Clinical Features of MS Associated with Leber Hereditary Optic Neuropathy mtDNA Mutations
Neurol 81:2073-2081, Pfeffer, G.,et al, 2013
Dyspnea as a Presenting Manifestation of Amyloid Myopathy
Neurol 81:e184, Ghosh, P.S.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Neurological Immune-Related Adverse Events of Ipilimumab
Pract Neurol 13:278-280, Bot, I.,et al, 2013
MELAS
MedLink.com, August, Klopstock, T., 2012
Primary Sjogren Syndrome
BMJ 344:e3821, Ramos-Casals, M.,et al, 2012
Clinical Findings and Diagnosis in Human Granulocytic Anaplasmosis: A Case Series from Massachusetts
Mayo Clin Proc 87:233-239, Weil, A.A.,et al, 2012
Restricted Diffusion in Vanishing White Matter
Arch Neurol 69:723-727, Van de Lei, H.D.W.,et al, 2012
Screening Patients with a Family History of Subarachnoid Haemorrhage for Intracranial Aneurysms: Screening Uptake, Patient Characteristics and Outcome
JNNP 83:86-88, Miller, T.D.,et al, 2012
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
Cerebral Amyloid Angiopathy
eMedicine, Jan, Menon, R.S., 2012
Central Nervous System Involvement in Dengue
Neurol 78:736-742, Araujo,F.M.C.,et al, 2012
Inflammatory Myopathies with Anti-Ku Antibodies
Medicine 91:95-102, Rigolet,A.,et al, 2012
Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012
Clinicopathologic Conference,Necrotizing Noninflammatory Myopathy Consistent with Exposure to Statins
NEJM 36:944-954, Case 7-2012, 2012
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
Clinicopathologic Conference, Rocky Mountain Spotted Fever
NEJM 366:1434-1443, Case 11-2011, 2012
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Progressive Weakness with Respiratory Failure in a Patient with Sarcoidosis
Arch Neurol 69:534-537, Chaudhry,P.,et al, 2012
Evidence-based Guideline: Intravenous Immunoglobulin in the Treatment of Neuromascular Disorders
Neurol 78:1009-1015, Patwa,H.S.,et al, 2012
A Case of Necrotizing Myopathy with Proximal Weakness and Cardiomayopathy
Neurol 78:1527-1532, Matthews,E.,et al, 2012
Clincopathologic Conference,Graves Disease with Thyrotoxic Periodic Paralysis
NEJM 366:553-560, Case 4-2012, 2012
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
Dropped Head Syndrome: Report of Three Cases During Treatment with a Mek Inhibitor
Neurol 79:1929-1932, Chen, X.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy
Neurol 79:2349-2354, Morita, M.,et al, 2012
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 2012
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012
Clinical and Biomarker Changes in Dominantly Inherited Alzheimers Disease
NEJM 367:795-804,864, Bateman, R.J.,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
Infectious Mononucleosis in Adults and Adolescents
UpToDate, May, Aronson,M.D. & Auwaerter,P.G., 2011
Clinicopathologic Conference, Thymoma with Paraneoplastic Myasthenia Gravis, Polymyositis and Myocarditis, and Brain Stem Encephalitis
NEJM 365:2413-2422, Case 39-2011, 2011
Clinicopathologic Conference, Cystoisospora Belli Enteritis and HIV Infection
NEJM 365:2306-2316, Case 38-2011, 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Evidence-based guideline update: Treatment of Essential Tremor
Neurol 77:1752-1755, Zesiewicz, T.A.,et al, 2011
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Weighing the Benefits of High-Dose Simvastatin against the Risk of Myopathy
NEJM 365:285-287, Egan, A.,et al, 2011
Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
NEJM 365:549-559, Case 24-2011, 2011
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
RadioGraphics 31:5-30, Hegde,A.N.,et al, 2011