Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,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
Restricted Diffusion in Vanishing White Matter
Arch Neurol 69:723-727, Van de Lei, H.D.W.,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
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
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
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 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
Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
RadioGraphics 31:5-30, Hegde,A.N.,et al, 2011
An Unusual Cause of Symptomatic Tension-Type Headache: Hypertrophic Branchial Myopathy
Neurol 76:488, Desestret,V.,et al, 2011
Family Paralysis
Lancet 377:352, Sung,C.-C.,et al, 2011
Genes Associated With Adult Cerebral Venous Thrombosis
Stroke 42:913-918, Marjot,T.,et al, 2011
Mycophenolate Mofetil May Be Effective in CNS Sarcoidosis But Not in Sarcoid Myopathy
Neurol 76:1168-1172, Androdias,G.,et al, 2011
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Deep Brain Stimulation
JAMA 305:732, Pluta,R.,et al, 2011
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Myasthenia Gravis as a Cause of Head Drop in Parkinson Disease
The Neurologist 17:144-146, Uludag, I.F.,et al, 2011
Myoglobinuria and Muscle Pain are Common in Patients With Limb-Girdle Muscular Dystrophy 21
Neurol 76:194-195, Mathews,K.D.,et al, 2011
Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
Stroke 42:e1-e3, Ng, A.S.L.,et al, 2011
Association Between Familial Atrial Fibrillation and Risk of New-Onset Atrial Fibrillation
JAMA 304:2263-2269, Lubitz,S.A.,et al, 2010
Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
Neurosurg Focus 29:E7, Washington,C.W.,et al, 2010
The Patient Has the Diagnosis
Lancet 378:1436, Jubany,L.I.,et al, 2010
Familial Neuromyelitis Optica
Neurol 75:310-315, Matiello,M., et al, 2010
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Cancer-Associated Myositis and Anti-p155 Autoantibody in a Series of 85 Patients with Idiopathic Inflammatory Myopathy
Medicine 89:47-52, Trallero-Araguas,E.,et al, 2010
Familial Mediterranean Fever and Central Nervous System Involvement: A Case Series
Medicine 89:75-84, Kalyoncu,U.,et al, 2010
Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
Neurol 74:1671-1679, Bor,A.S.E., et al, 2010
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Teaching NeuroImages: MRI Reversal in Wilson Disease With Trientine Treatment
Neurol 74:e72, Park,H.K., et al, 2010
Clinicopath Conf., Brain Abscess, Pulmonary Arteriovenous Malformation Due to Hereditary Hemorrhagic Telangiectasia
NEJM 362:1326-1333, Case 10-2010, 2010
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Progressive Multifocal Leukoencephalopathy in Individuals with Minimal or Occult Immunosuppression
JNNP 81:247-254, Gheuens,S., et al, 2010
Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
Neurol 75:432-440, Mullen,S.A., et al, 2010
Pulmonary AVMs, including hereditary hemorrhagic telangiectasia: Diagnosis and Treatment
UpTo Date, August, Gossage, J.R., 2010
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
FEBS J 277:1070-1075, Riant, F.,et al, 2010
Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
Neurol 74:57-63, Pantoni,L.,et al, 2010