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
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Congenital Myopathies
Muscle & Nerve 17:131-144994., Bodensteiner,J.B., 1994
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, 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
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Diagnosis and Management of Cerebral Venous Thrombosis:A Scientific Statement From the American Heart Association
Stroke 55:e77-e90, Saposnik,G.,et al, 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Pediatric and Adult Brain Death/Death by Neurologic Criteria Consensus Guidelines
Neurol 101:1112-1132, Greer,D.M.,et al, 2023
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Recent Advances in the Diagnosis and Management of Cluster Headache
BMJ 376:e059577, Schindler, E. & Burish, M.J., 2022
Clinical Manifestations and Diagnosis of Listeria Monocytogenes Infection
UptoDate Aug, Gelfand, M.S.,et al, 2022
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.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
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Determination of Brain Death
NEJM 385:2554-2561, Greer, D.M., 2021
Determination of Brain Death/Death by Neurologic Criteria
JAMA doi:10.1001/JAMA.2020.11586, Greer, D.M.,et al, 2020
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Radiologically Isolated Syndrome: A Review for Neuroradiologists
AJNR 41:1542-1549, Hosseiny, M.,et al, 2020
Migraine
NEJM 383:1866-1876, Ashina, M., 2020
Cyclic Vomiting Syndrome in Children
AJGH 2:doi:10.33552/AJGH.2020, Al-Ansari, N., 2020
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
Management of Stroke in Neonates and Children
Stroke 50:e51-e96, Ferriero, D.M.,et al, 2019
Reversible Cerebral Vasoconstriciton Syndrome
www.UptoDate.com, June, Singhal, A., 2019
Incidental Brain MRI Findings in Children:A Systematic Review and Meta-Analysis
AJNR 40:1818-1823, Dangouloff-Ros,V.,et al, 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
An Interdisciplinary Response to Contemporary Concerns About Brain Death Determination
Neurol 90:423-426, Lewis, A.,et al, 2018
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Abdominal Migraine
BMJ 360;k179, Angus-Leppan, H.,et al, 2018
Long-Term Risk of Hemorrhagic Stroke In Young Patients with Congenital Heart Disease
Stroke 49:1155-1162, Giang, K.W.,et al, 2018
Incidence of Sudden Unexpected Death in Epilepsy in Children is Similar to Adults
Neurol 91:e107-e111, Keller, A.E.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
Acute Disseminated Encephalomyelitis in 228 Patients
Neurol 86:2085-2096, Koelman, D.L.H.,et al, 2016
Acute Flaccid Myelitis; A Clinical Review of US Cases 2012-2015
Ann Neurol 80:326-338, Messacar, K.,et al, 2016
Neonatal Abstinence Syndrome
NEJM 375:2468-2479, McQueen, K. & Murphy-Oikonen, J., 2016