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
Assessing Abnormal Iron Content in the Deep Gray Matter of Patients with Multiple Sclerosis verus Healthy Controls
AJNR 33:252258, Habib,C.A.,et al, 2012
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Sjogren Syndrome
emedicine.medscape.com,Oct, Miller,A.V., 2011
Epidemiology, Pathogenesis, Clinical Manifestations and Diagnosis of Waldenstrom Macroglobulinemia
UptoDate, May, Rajkumar, S.V., 2011
Infectious Mononucleosis in Adults and Adolescents
UpToDate, May, Aronson,M.D. & Auwaerter,P.G., 2011
Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
NEJM 365:549-559, Case 24-2011, 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
Treatment of Severe Neurological Deficits with IgG Depletion through Immunoadsorption in Patients with Escherichia coli O104:H4-Associated Haemolytic Uraemic Syndrome: A Prospective Trial
Lancet 378:1166-1173,1120, Greinacher, A.,et al, 2011
Basal Ganglia Involvement in Wernicke Encephalopathy: Report of 2 Cases
AJNR 32:E129-E131, Zuccoli, G.,et al, 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Epidemic Profile of Shiga-Toxin-Producing Escherichia coli O104:H4 Outbreak in Germany
NEJM 365:1771-1780, Frank, C.,et al, 2011
Guidelines for the Prevention of Stroke in Patients With Stroke or Transient Ischemic Attack: A Guideline for Healthcare Professionals From the American Heart Association/American Stroke Association
Stroke 42:227-276, Furie,K.L.,et al, 2011
Folic acid supplementation prevents phenytoin-induced gingival overgrowth in children
Neurol 76:1338-1343, Arya, R.,et al, 2011
Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Family Paralysis
Lancet 377:352, Sung,C.-C.,et al, 2011
Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
Stroke 42:1158-1192, Saposnik,G.,et al, 2011
Atrial Myxoma
MedLink July, Muengtaweepongsa, S.,et al, 2011
In the Eye of the Cuban Epidemic Neuropathy Storm: Rosaralis Santiesteban MD PhD
MEDICC Review 13:10-15, Mills, C.,et al, 2011
Cervical Carotid Artery Disease in Sickle Cell Anemia: Clinical and Radiological Features
Blood 118:6192-6199, Telfer, P.T.,et al, 2011
Pathophysiology of Thrombotic Thrombocytopenic Purpura
Int J Hematol 91:1-30, Tsai, H.M., 2010
Association of Vitamin D Deficiency with Cognitive Impairment in Older Women: Cross-Sectional Study
Neurol 74:27-32, 13, Annweiler,C.,et al, 2010
Clincopath Conference, Thrombotic Thrombocyclopenic Purpura in Patient with Lupus Nephritis
NEJM 363:2352-2361, Case 37-2010, 2010
Tired Legs - A Gut Diagnosis
Lancet 376:1798, Di Lazzaro,V.,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
Clinicopath Conf., Progressive Multifocal Leukoencephalopathy
NEJM 362:1431-1437, Case 11-2010, 2010
Clinicopath Conf., Brain Abscess, Pulmonary Arteriovenous Malformation Due to Hereditary Hemorrhagic Telangiectasia
NEJM 362:1326-1333, Case 10-2010, 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
Diagnosis and Management of the Antiphospholipid Syndrome
BMJ 340:1125-1132, Cohen,D., 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
Validation of the Coin Rotation Test: A Simple, Inexpensive, and Convenient Screening Tool for Impaired Psychomotor Processing Speed
Neurologist 16:249-253, Hill,B.D., et al, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Delirious Deficiency
Lancet 376:1362, Olsen,R.Q &Regis,J.T., 2010
3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
Neurol 75:1079-1083, Wortmann,S.B.,et al, 2010
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Neuropsychological Dysfunction and Neuroimaging Abnormalities in Neurologically Intact Adults With Sickle Cell Anemia
JAMA 303:1823-1831, Vichinsky,E.P., et al, 2010
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 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
Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Multiple Sclerosis with Predominant, Severe Cognitive Impairment
Arch Neurol 66:1139-1143, Staff,N.,et al, 2009
Intravascular Lymphoma Masquerading as Multiembolic Stroke Developing After Coronary Artery By-Pass Surgery
The Neurologist 15:98-101, Sumer,M.,et al, 2009
Moyamoya Disease and Moyamoya Syndrome
NEJM 360:1226-1237, Scott,R.M. &Smith,E.R., 2009
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Cognitive Function at 3 Years of Age After Fetal Exposure to Antiepileptic Drugs
NEJM 360:1597-1605,1667, Meador,K.J.,et al, 2009