Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020
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
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
Arch Pediatr Adolesc Med 149:764-768, Miller,G.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Neonatal Idiopathic Cerebral Venous Thrombosis:An Unrecognized Cause of Transient Seizures or Lethargy
Ann Neurol 32:51-56, Rivkin,M.J.,et al, 1992
Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
J Pediatr 121:710-714, Graham,S.M.,et al, 1992
Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
Pediatrics 87:159-165, Schreiner,M.S.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Clinical Features and Diagnosis
UptoDate.com, March, Flanagan,E.P. & Tillema,J-M, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis
Neurol 98:e2368-e2376, Molimard, A.,et al, 2022
Neuroimaging Findings in Parechovirus Encephalitis: A Case Series of Pediatric Patients
Pediatr Neurol 130:41-45, Tierradentro-Garcia, L.O.,et al, 2022
Clinical Manifestations and Diagnosis of Listeria Monocytogenes Infection
UptoDate Aug, Gelfand, M.S.,et al, 2022
Infantile and Childhood Hydrocephalus
NEJM 387:2067-2073, Whitehead,W.E.&Weiner,J.L., 2022
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
Body Mass Index in 1.9 Million Adolescents and Stroke in Young Adulthood
Stroke 52:2043-2052, Bardugo, A.,et al, 2021
A 16-year-old Girl with Ataxia, Oscillopsia, and Behavioral Changes
Neurol 94:713-717, Silverman, A.,et al, 2020
Childhood Multisystem Inflammatory Syndrome
NEJM 383:393-395, Levin, M., 2020
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
Cyclic Vomiting Syndrome in Children
AJGH 2:doi:10.33552/AJGH.2020, Al-Ansari, N., 2020
Long-Term Treatment Effect in Cerebrotendinous Xanthomatosis Depends on Age at Treatment Start
Neurol 92:e83-e95, Stelten, B.M.L.,et al, 2019
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
Predicting Developmental Outcomes in Preterm Infants
Neurol 93:e1231-e1240, Cayam-Rand, D.,et al, 2019
Reversible Cerebral Vasoconstriciton Syndrome
www.UptoDate.com, June, Singhal, A., 2019
Paraoxysmal Tonic Upgaze in Children, Three Case Reports and a Review of the Literature
Pediatr Emer Care 35:e67-e69, Kartal,A., 2019
Lyme Myelopathy:Case Report and Literature Review of a Rare But Treatable Disorder
Mult Scler Relat Disord 29:1-6, Kaiser,E.A.,et, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Neurologic Outcomes in Pediatric Cardiac Arrest Survivors Enrolled in the THAPCA trials
Neurol 91:e123-e131, Ichord, R.,et al, 2018
An Infant with Episodic Facial Flushing
Neurol 91:278-281, Kang,J.H.,et al, 2018
Distinctive Imaging in a Paucisymptomatic Child with Leukodystrophy
Neruol 91:e1368-e1369, Sharawat, I.K.,et al, 2018
Pediatric HIV Infection: Classification, Clinical Manifestations, and Outcome
www.UptoDate.com, June, Gillespie, S.L., 2018
Human Parechovirus: An Increasingly Recognized Cause of Sepsis-Like Illness in Young Infants
Clin Microbiol Reviews 31:1-17, Olijve, L.,et al, 2018
Outcomes of Colorado Children with Acute Flaccid Myelitis at 1 Year
Neurol 89:129-137, Martin, J.A.,et al, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Chikungunya Virus-Associated Encephalitis
Neurol 86:94-102, Gerardin, P.,et al, 2016