A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Prothombotic Mutations as Risk Factors for Cryptogenic Ischemic Cerebrovascular Events in Young Subjects With Patent Foramen Ovale
Stroke 38:2070-2073, Botto,N.,et al, 2007
Antithrombotic and Interventional Treatment Options in Cardioembolic Transient Ischaemic Attack and Ischaemic Stroke
JNNP 78:14-24, McCabe,D.J.H. &Rakhit,R.D., 2007
Fulminant Idiopathic Intracranial Hypertension
Neurol 68:229-232, Thambisetty,M.,et al, 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Prognosis of Migraine Headaches in Adolescents: A 10-Year Follow-Up Study
Neurol 67:1353-1356, Monastero,R.,et al, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Stroke in Childhood
The Neurologist 12:94-102, Jordan,L.C., 2006
Sinus Venous-Type Atrial Septal Defect: A Rare Curable Cause of Recurrent Transient Neurological Deficits
Stroke 37:2385-2386, Cakmak,S.,et al, 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006
Childhood-onset Multifocal Motor Neuropathy with Conduction Blocks
Neurol 66:922-924, Moroni,I.,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
Embolic Stroke Due to a Left Atrial Thrombus Two Years After Placement of an Atrial Septal Defect Closure Device
Am J Cardiol 98:1294-1296, Raghu,A.,et al, 2006
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Patent Foramen Ovale in Young Adults with Unexplained Stroke
NEJM 353:2361-2372, Kizer,J.R. &Devereux,R.B., 2005
Neuroblastoma -- from Genetic Profiles to Clinical Challenge
NEJM 353:2215-2217, Kushner,B.H. &Cheung,N.-K.V., 2005
Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
Medicine 84:129-136, Lok,C.,et al, 2005
Value of Gradient-Echo Magnetic REsonance Imaging in the Diagnosis of Familial Cerebral Cavernous Malformation
Arch Neurol 62:653-658, Lehnhardt,F-G.,et al, 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005
Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005
Angiography-Negative Primary Central Nervous System Vasculitis in Children
Arthritis Rheum 52:2159-2167, Benseler, S.M.,et al, 2005
Neurological Sequelae in Twins Born After Assisted Conception: Controlled National Cohort Study
BMJ 329:311-314, Pinborg,A.,et al, 2004
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
MR Imaging Presentation of Intracranial Disease Associated with Langerhans Cell Histiocytosis
AJNR 25:880-891, Prayer, D.,et al, 2004
Clinical Correlations of Mutations in the SCN1A Gene: From Febrile Seizures to Severe Myoclonic Epilepsy in Infancy
Pediatr Neurol 30:236-243, Ceulemans,B.P.G.M.,et al, 2004
Neuro-Ophthalmic Findings in the Visual Variant of Alzheimers Disease
Ophthalmology 111:376-381, Lee,A.G. &Martin,C.O., 2004
Alternate-Sided Homonymous Hemianopia as the Solitary Presentation of Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes Syndrome
Chang Gung Med J 26:199-203, Su,WY.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Learning Disability
Lancet 362:811-821, Gillberg,C.&Soderstrom,H., 2003
Can We Prevent Cerebral Palsy?
NEJM 349:1765-1769, Nelson,K.B., 2003
Clinicopath Conf., Chronic Inflammatory Demyelinating Polyneuropathy
NEJM 348:735-743, Case 6-2003, 2003
Expression of p53 and Prognosis in Children With Malignant Gliomas
NEJM 346:420-427, Pollack,I.F.,et al, 2002
Clinicopath Conf., Prolactinoma
NEJM 347:1604-1611, Case 35-2002, 2002
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
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 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
Is Patent Foramen Ovale a Family Trait?
Stroke 32:1563-1566, Arquizan,C.,et al, 2001
Stroke in a Healthy 46-Year-Old Man
JAMA 285:2757-2762, Wityk,R.J., 2001
Fits and Strokes
Lancet 358:120, Sharma,P.,et al, 2001