Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014
Clinicopathologic Conferences, Celiac Disease, Addisons Disease, and Major Depression Disorder
NEJM 368:2015-2024, Case 16-2013, 2013
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Clinicopath Conf., Atypical Hemolytic-Uremic Syndrome
NEJM 361:389-400, Case 23-2009, 2009
Mycoplasma Pneumoniae Encephalitis in Childhood
J Microbiol Immunol Infect 35:173-178, Lin,W.-C., et al, 2002
Post-Traumatic Central Sleep Apnea in a Child
J Pediatr 110:906-909, Quera-Salva,M.A.&Guilleminault,C., 1987
Spontaneous Intracranial Hypotension Associated with Vascular Malformations
AJNR 46:426-432, Mamlouk,M.D.,et al, 2025
Polka Dot Intracerebral Hemorrhage in Leukemia
Stroke 56:e49-e50, Rebchuk,A.D.,et al, 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,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
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025
Clinical Features, Diagnosis and Management of Klinefelter Syndrome
www.UptoDaate.com, Matsumoto,A.M. & Anawals,B.D., 2024
A Teenager With Right-Sides Headache and Periorbital Changes
Neurol 100:144-150, Lax,D.M.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Salt and Pepper Sign, PLNTY for Drug-Resistant Epilepsy
Neurol 100:791-795, Paredes-Aragon,E.M.,et al, 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
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022
Torticollis in a Child with Otalgia
BMJ 378:e070608, Sarathi, C.I.P.,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
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
A 7-Year-Old Boy with Acute-Onset Altered Mental Status
Neurol 96:e2774-e2778, Wong, G.J.,et al, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
Rapidly Progressive Gait Disorder and Cranial Nerves Involvement in a 9-year-old boy
Neurol 94:e330-e334, Lipp, A.,et al, 2020
Clinical and Radiologic Features of Pedicatric Opioid Use-Associated Neurotoxicity with Cerebellar Edema (POUNCE) Syndrome
Neurol 94:710-712, Kim, D.D. & Prasad, A.N., 2020
A 16-year-old Girl with Ataxia, Oscillopsia, and Behavioral Changes
Neurol 94:713-717, Silverman, A.,et al, 2020
Association of Pediatric Acute-Onset Neuropsychiatric Syndrome with Microstructural Differences in Brain Regions Detected via Diffusion-Weighted Magnetic Resonance Imaging
JAMA Network Open 3:doi:10.1001/JAMANETWORKOPEN.2020.4063, Zheng, J.,et al, 2020
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Delayed Complications of Cranial Irradiation
www.UptoDate.com, May, Dietrich, J.,et al, 2019
Childhood Primary Angiitis of the Central Nervous System
www.UptoDate.com, Dec, Twilt, M. & Benseler, S., 2019
Characteristic Head Jerks in Congenital Oculomotor Apraxia due to Joubert Syndrome
Neurol 93:e1125-e1126, Borngraber, F.,et al, 2019
Incidental Brain MRI Findings in Children:A Systematic Review and Meta-Analysis
AJNR 40:1818-1823, Dangouloff-Ros,V.,et al, 2019
When MRI is a Clue in Episodic Ataxia
Neurol 93:e2074-e2075, Dhawan, S.R.,et al, 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Treatable Bilateral Striatal Lesions Related to Anti-Dopamine 2 Receptor
Neurol 91:98-101, Marques-Matos, C.,et al, 2018
Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 2018