A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Neuromyelitis Optica Spectrum Disorder
NEJM 387:631-639, Wingerchuk, D.M. & Lucchinetti, C.F., 2022
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
A 12-year-old girl with headache and change in mental status
Neurol 90:524-529, Patel, P.,et al, 2018
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
AJNR 39:427-434, Gramegna, L.L.,et al, 2018
Diagnosis and Management of the Antiphospholipid Syndrome
NEJM 378:2010-2021, Garcia, D. & Erkan, D., 2018
Clinicopathologic Conference, Poststroke Mania and the Frontal Lobe Syndrome
NEJM 379:182-189, Case 21-2018, 2018
Selenium Toxicity Associated with Reversible Leukoencephalopathy and Cortical Blindness
JAMA Neurol 75:1282-1283, Rae, W.,et al, 2018
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
A 55-year-old Man with Rapidly Progressive Dementia and Parkinsonism
Neurol 89:e182-e187, Tabuas-Pereira, M.,et al, 2017
Reversible Cognitive Decline Diagnosed on Ear Examination
BMJ 352:e1215, Ellis, R.J.B.,et al, 2016
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Central Nervous System Manifestation of IgG4-Related Disease
JAMA Neurol 71:767-770, Regrev, K.,et al, 2014
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
Neurol 78: e126, Shah, S.,et al, 2012
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Current Concept of Neuromyelitis Optica (NMO) and NMO Spectrum Disorders
JNNP doi:10.1136/JNNP-2012-302310, Jacob, A.,et al, 2012
Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
NEJM 365:549-559, Case 24-2011, 2011
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Clinicopath Conf., Progressive Multifocal Leukoencephalopathy
NEJM 362:1431-1437, Case 11-2010, 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, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Neurologic Complications of Gastric Bypass Surgery for Morbid Obesity
Neurol 68:1843-1850, Juhasz-Pocsine,K.,et al, 2007
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Neonatal MRI to Predict Neurodevelopmental Outcomes in Preterm Infants
NEJM 355:685-694,727, Woodward,L.J.,et al, 2006
Thiamine Deficiency in Infants: MR Findings in the Brain
AJNR 26:1668-1674, Kornreich,Ll,et al, 2005
MR Imaging With Diffusion-Weighted Imaging in Acute and Chronic Wernicke Encephalopathy
AJNR 26:2306-2310, White,M.L.,et al, 2005
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Homocysteine, Silent Brain Infarcts, and White Matter Lesions: The Rotterdam Scan Study
Ann Neurol 51:285-289,279, Vermeer,S.E.,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
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002