Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
Neurol 75:432-440, Mullen,S.A., et al, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Pathophysiology of Thrombotic Thrombocytopenic Purpura
Int J Hematol 91:1-30, Tsai, H.M., 2010
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
Bilateral Thalamic Lesions
AJR 192:W53-W62, Smith,A.B.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Clinicopath Conf. Rickets Due to Vitamin D Deficiency
NEJM 360:398-407, Case 3-2009, 2009
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 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
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Hemorrhagic Stroke in the Stroke Prevention by Aggressive Reduction in Cholesterol Levels Study
Neurol 70:2364-2370,2355, Goldstein,L.B.,et al, 2008
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Ischemic and Hemorrhagic Complications After Intra-Arterial Fibrinolysis in Vertebrobasilar Occlusion
AJNR 28:378-381, Schulte-Altedorneburg,G.,et al, 2007
Neurologic Complications of Gastric Bypass Surgery for Morbid Obesity
Neurol 68:1843-1850, Juhasz-Pocsine,K.,et al, 2007
Differential Diagnosis of Bilateral Thalamic Lesions
Clin Neuroradiol 17:3-22, Linn,J.,et al, 2007
GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
Neurol 67:480-484, Mercimek-Mahmutoglu,S.,et al, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006
Efficacy and Safety of Cholesterol-Lowering Treatment: Prospective Meta-Analysis of Data from 90056 Participants in 14 Randomised Trials of Statins
Lancet 366:1267-1278, Cholesterol Treatment Trialists (CTT) Collaborators, 2005
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Effects of Cholesterol-lowering with Simvastatin on Stroke and Other Major Vascular Events in 20 536 People with Cerebrovascular Disease or Other High-Risk Conditions
Lancet 363:757-767, Heart Protection Study Collaborative Group, 2004
Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
CMT with Pyramidal Features
Neurol 60:696-699, Vucic,S.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003
Prospective Assessment of Risk Factors for Recurrent Stroke During Childhood--A 5-year Follow-up Study
Lancet 360:1540-1545,1526, Strater,R.,et al, 2002
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002
White Matter Hyperintensities and Neuropsychological Outcome Following Carbon Monoxide Poisoning
Neurol 58:1525-1532, Parkinson,R.B.,et al, 2002
Out of Africa, Trypanosomiasis
NEJM 347:749-753, Sahlas,D.J.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Practice Patterns of Neurologists Regarding Bone and Mineral Effefcts of Antiepileptic Drug Therapy
Arch Neurol 58:1369-1374,1352, Valmadrid,C.,et al, 2001
Vitamin D Deficiency and Risk of Hip Fractures Among Disabled Elderly Stroke Patients
Stroke 32:1673-1677, Sato,Y.,et al, 2001
Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001
HMG-CoA Reductase Inhibitors (Statins)
Neurol 54:790-795, Hess,D.C.,et al, 2000
Nitrous Oxide Anesthesia-Associated Myelopathy
ArchNeurol 57:380-382, Marie,R.,et al, 2000
Epilepsy, Broken Bones, and Fatty Stools
Lancet 355:1882, Drenth,J.P.H.,et al, 2000
Low-Density Lipoprotein Cholesterol and the Risk of Dementia with Stroke
JAMA 282:254-260, Moroney,J.T.,et al, 1999
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Spastic Paraparesis after Anaesthesia
Lancet 353:554, Lee,P.,et al, 1999