Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype: Study in 200 Consecutively Recruited Individuals
Stroke 41:630-634, Adib-Samii,P., 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
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
JC Virus Infection of the Brain
AJNR 31:1564-1576, Bag,A.K.,et al, 2010
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Coccidioidal Meningitis: Clinical Presentation and Management in the Fluconazole Era
Medicine 89:251-284, Mathisen,G.,et al, 2010
Chronic Inflammatory Demyelinating Polyneuropathy: Etiology, Clinical Features, and Diagnosis
UpToDate, Sept, Lewis, R., 2010
AIDS-Related Lymphomas: Epidemiology, Risk Factors, and Pathobiology
UpToDate, Sept, Kaplan, L.D.,et al, 2010
Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
FEBS J 277:1070-1075, Riant, F.,et al, 2010
Eccentric Target Sign in Cerebral Toxoplasmosis - Neuropathological Correlate to the Imaging Feature
J Magn Reson Imaging 31:1469-1472, Kumar, G.S.,et al, 2010
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Plasmablastic Lymphoma: CNS Involvement, Coexistence of Other Malignancies, Possible Viral Etiology, and Dismal Outcome
Ann Hematol 88:351-358, Ustun, C.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
BMJ 339:706-707, Ong,A., 2009
Practice Parameter: Evaluation of the Child with Microcephaly (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 73:887-897, Ashwal,S.,et al, 2009
PML-IRIS in Patients with HIV Infection: Clinical Manifestations and Treatment with Steroids
Neurol 72:1458-1464,1454, Tan,K.,et al, 2009
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Clinicopath Conf, Acute HIV-1 Infection
NEJM 360:1540-1548, Case 11-2009, 2009
Diagnosis and New Treatment in Muscle Channelopathies
JNNP 80:360-365, Meola,G.,et al, 2009
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Parkinsonism in HIV-Infected Patients on Highly Active Antiretroviral Therapy
Neurol 73:401-403, Tisch,S. &Brew,B., 2009
Clinicopath Conf., Atypical Hemolytic-Uremic Syndrome
NEJM 361:389-400, Case 23-2009, 2009
Hearing Improvement After Bevacizumab in Patients with Neurofibromatosis Type 2
NEJM 361:358-367, Plotkin,S.R.,et al, 2009
Disclosure of APOE Genotype for Risk of Alzheimers Disease
NEJM 361:245-254,298, Green,R.C.,et al, 2009
A Large-Scale International Meta-Analysis of Paraoxonase Gene Polymorphisms in Sporadic ALS
Neurol 73:16-24,11, Wills,A.-M.,et al, 2009
Parkinsons Disease
Lancet 373:2055-2066, Lees,A.J.,et al, 2009
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
A Multidisciplinary Study of Patients with Early-Onset PD with and Without Parkin Mutations
Neurol 72:110-116,106, Lohmann,E.,et al, 2009
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Conventional MRI and NOTCH3 Gene Screening in Sporadic CADASIL
Neurol 72:469-471, Liguori,M.,et al, 2009
Neurologic Immune Reconstitution Inflammatory Syndrome in HIV/AIDS: Outcome and Epidemiology
Neurol 72:835-841, McCombe,J.A.,et al, 2009
Small Fiber Neuropathy: A Burning Problem
Cleve Clin J Med 76:297-305, Tavee, J. & Zhou, L., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Frequent Hemorrhagic Lesions in Cerebral Toxoplasmosis in AIDS Patients
J Neuroimaging 19:169-173, Bhagavati, S. & Choe, J., 2009
Reversible Posterior Leukoencephalopathy Syndrome in 2 HIV-Infected Patients Receiving Antiretroviral Therapy
CID 49:e19-e22, Ridolfo, A.L.,et al, 2008
Decoding Cryptogenic Cardioembolism
Ann Neurol 64:364-365, Meschia,J.F., 2008
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Familiality in Brain Tumors
Neurol 71:1015-1020, Blumenthal,D.T.&Cannon-Albright,L.A., 2008