Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
Determination of Brain Death
NEJM 385:2554-2561, Greer, D.M., 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
CASPR2 Autoimmunity in Children Expanding to Mild Encephalopathy with Hypertension
Neurol 94:e2290-e2301,953, Syrbe, S.,et al, 2020
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Hepatitis Associated with Mycoplasma Pneumoniae Infection in Korean Children:A Prospective Study
Korean J Pediatr 58:211-217, Kim,K.W.,et al, 2015
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Lead
Adams & Victors Principles of Neurology Chp 43, pg 1220, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
Neurol 78: e126, Shah, S.,et al, 2012
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Clinicopath Conf., Atypical Hemolytic-Uremic Syndrome
NEJM 361:389-400, Case 23-2009, 2009
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Lesions of the Corpus Callosum: MR Imaging and Differential Considerations in Adults and Children
AJR 179:251-257, Bourekas,E.C.,et al, 2002
Baclofen Overdose:Drug Experimentation in a Group of Adolescents
Pediatrics 101:1045-1048, Perry,H.E.,et al, 1998
An Anaemic Infant in a Coma
Lancet 352:284, Kokori,H.,et al, 1998
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Aggressive Approach in the Treatment of Acute Lead Encephalopathy with an Extraordinarily High Concentration of Lead
Arch Pediatr Adolesc Med 152:1100-1104, Gordon,R.A.,et al, 1998
Neurological Manifestations in Three German Children with AIDS
Neuropediatrics 18:99-106, Biggemann,B.,et al, 1987
CNS Manifestations of the Hemolytic-Uremic Syndrome
Am J Dis Child 134:869-872, Bale,J.F.,et al, 1980
Polka Dot Intracerebral Hemorrhage in Leukemia
Stroke 56:e49-e50, Rebchuk,A.D.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinicopathologic Conference, Nutritional Optic Neuropathy Due to Multiple Nutritional Deficits, Including Vitamin A, Copper, and Zinc Deficiencies
NEJM 391:641-650, Gaier,E.D.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Clinical Features and Diagnosis
UptoDate.com, March, Flanagan,E.P. & Tillema,J-M, 2023
A Teenager with Chronic Meningitis-Does Occams Razor Apply?
Neurol 100:828-835, Havuluri,H.,et al, 2023
A 17-Year-Old Girl with Progressive Cognitive Impairment
Neurol 101:e1466-e1472, Zhao,B.,et al, 2023
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD):Clinical Features and Diagnosis
www.UptoDate.com, Sept, Flanagan,E.P. & Tillema,J-M, 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
An 8-Year-Old with Acute Onset Ataxia
Neurol 99:305-310, McLaren, J.R.,et al, 2022
Extracranial Etiology of Acute Onset Ataxia and Weakness
Neurol 99:898-899, Nordli,D.,et al, 2022
Imaging Findings in Children Presenting with CNS Nelarabine Toxicity
AJNR 43:1802-1809, Serrallach,B.L.,et al, 2022
Mild Encephalitis/Encephalopathy with a Reversible Splenial Lesion Associated with Systemic Mycoplasma Pneumoniae Infection in North America: A Case Report
J Med Case Reports doi:10.1186/s13256-022-03299-6, Talukder,N.T.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021
Pediatric Parainfectious Encephalitis Associated with COVID-19
Neurol 96:541-544, Gaughan, M.,et al, 2021
Clinicopathologic Conference, Pheochromocytoma
NEJM 384:1145-1155, Case 9-2021, 2021
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
Neurologic Involvement in Children and Adolescents Hospitalized in the United States for Covid-19 or Multisystem Inflammatory Syndrome
JAMA Neurol 78:536-547, LaRovere, K.L.,et al, 2021
A 13-Year-Old Boy with Subacute-Onset Spastic Gait
JAMA Neurol 78:e1-e2, Xie, N.,et al, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021