Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
A 47-year-old Man with Diffuse White Matter Disease and Rapidly Progressive Dementia
Neurol 92:e2832-e2837, Di Luca, D.G.,et al, 2019
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Effects of Tranexamic Acid on Death, Disability, Vascular Occlusive Events and Other Morbidities in Patients with Acute Traumatic Brain Injury (CRASH-3): A Randomised, Placebo-Controlled Trial
Lancet 394:1713-1723,1687, The CRASH-3 trial collaborators, 2019
Long-Term Treatment Effect in Cerebrotendinous Xanthomatosis Depends on Age at Treatment Start
Neurol 92:e83-e95, Stelten, B.M.L.,et al, 2019
Pontine Tegmental Cap Dysplasia in a Neonate
Neuol 91:e2100-e2101, Bilgin, N.,et al, 2018
A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018
Selenium Toxicity Associated with Reversible Leukoencephalopathy and Cortical Blindness
JAMA Neurol 75:1282-1283, Rae, W.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Tinnitus
NEJM 378:1224-1231, Bauer, C.A., 2018
Acute Brain Lesions on Magnetic Resonance Imaging and Delayed Neurological Sequelae in Carbon Monoxide Poisoning
JAMA Neurol 75:436-443, Jeon, S.B.,et al, 2018
Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype
Neurol 90:e1596-e1604, Dai, S.,et al, 2018
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Encephalitis with mGluR5 antibodies
Neurol 90:e1964-e1972, Spatola, M.,et al, 2018
Neurologic Outcomes in Pediatric Cardiac Arrest Survivors Enrolled in the THAPCA trials
Neurol 91:e123-e131, Ichord, R.,et al, 2018
The Parkinson Pandemic - A Call to Action
JAMA Neurol 75:9-10, Dorsey, E.R. & Bloem, B.R., 2018
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Persistent Postural-Perceptual Dizziness (PPPD): A Common, Characteristic and Treatable Cause of Chronic Dizziness
Pract Neurol 18:5-13, Popkirov, S.,et al, 2018
Diet Quality is Associated with Disability and Symptom Severity in Multiple Sclerosis
Neurol 90:e1-e11, Fitzgerald, K.C.,et al, 2018
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
A 12-year-old girl with headache and change in mental status
Neurol 90:524-529, Patel, P.,et al, 2018
Wilson Disease
NIDDK Oct2018, , 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinical Presentation and Prognosis in MOG-antibody Disease: A UK Study
BRAIN 140:3128-3138, Jurynczyk, M.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
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
A 46-year-old man with Persistent Hiccups, Cognitive Dysfunction, and Imbalance
Neurol 89:e193-e196, Lamb, C.J.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Characteristics in Limbic Encephalitis with Anti-Adenylate Kinase 5 Autoantibodies
Neurol 88:514-524,508, Do, L. & Chanson, E., 2017
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
Autoimmune Encephalitis: Pathophysiology and Imaging Review of an Overlooked Diagnosis
AJNR 38:1070-1078, Kelley, B.P.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
An Older Man with Memory Impairment and Convulsions
BMJ 358:J2824, Zhao, X.,et al, 2017
Clinicopathologic Conference, Aqueductal Stenosis with Hydrocephalus
NEJM 375:2583-2593, Case 40-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Long-Term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Juvenile Metachromatic Leukodystrophy Compared with Nontransplanted Control Patients
JAMA Neurol 73:1133-1140, Groeschel, S.,et al, 2016
A Case of Subacute Cognitive Decline in a 76-year-old Man
Neurol 87:e124-e128, MacLellan, A.,et al, 2016
Long-Term Preclinical Magnetic Resonance Imaging Alterations in Sporadic Creutzfeldt-Jakob Disease
Ann Neurol 80:629-632, Zanusso, G.,et al, 2016
Intervention Versus Aggressive Medical Therapy for Cognition in Severe Asymptomatic Carotid Stenosis
AJNR 37:1889-1897, Lin, C.J.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016