Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Surfers myelopathy
Neurol 79:2171-2176, Chang, C.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
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Guillain-Barre Syndrome
NEJM 366:2294-2304, Yuki, N. & Hartung, H.P., 2012
Restricted Diffusion in Vanishing White Matter
Arch Neurol 69:723-727, Van de Lei, H.D.W.,et al, 2012
Clinicopathologic Conference,Necrotizing Noninflammatory Myopathy Consistent with Exposure to Statins
NEJM 36:944-954, Case 7-2012, 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
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
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Diagnosis of intravascular lymphoma: usefulness of random skin biopsies
Brain Neurol 63:451-458, Nakano, N.M., 2011
Neurological disturbances caused by intravascular lymphomatosis
Brain Nerve 63:443-449, Mizutani, T., 2011
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Clinical Reasoning: A 34-year-old man with recurrent limb weakness
Neurol 77:e68-e72, Karam, C.,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
Treat Alzheimer Disease Before It Is Symptomatic
Arch Neurol 68:1237-1238, , 2011
Exercise-Associated Numbness and Tingling in the Legs
Arch Neurol 68:1599-1602, Sharp, L.,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
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 stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Metastatic spinal cord compression
BMJ 342:d2402, Quraishi, N. & Esler, C., 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
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
Ascending Paralysis from Malignant Leptomeningeal Melanomatosis
JNNP 81:449-450, Burrows,A.M., et al, 2010
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Transverse Myelitis
NEJM 363:564-572, Frohman,E.M. &Wingerchuk,D.M., 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
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
Painful Paraplegia Caused by Spontaneous Abdominal Compartment Syndrome
Neurol 74:1833-1834, Hermann,A., et al, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
Neurol 75:1079-1083, Wortmann,S.B.,et al, 2010
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
Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
Neurol 74:57-63, Pantoni,L.,et al, 2010
Clinical Reasoning: A 34-Year-Old Woman with Recurrent Bouts of Acral Paresthesias
Neurol 74:775-778, Karam,C. &Scelsa,S., 2010
Genetic Susceptibility to Stuttering
NEJM 362:750-752, Fisher,S.E. &Phil,D., 2010
Familial Versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype
AJNR 31:377-382, Petersen,T.A.,et al, 2010
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Practice Parameter: Pharmacologic Treatment of Spasticity in Children and Adolescents with Cerebral Palsy (an Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 74:336-343, Delgado,M.R.,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
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009