Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Dystonia and Chorea in Acquired Systemic Disorders
JNNP 65:436-445, Janavs,J.L.&Aminoff,M.J., 1998
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Ependymomas of the Posterior Cranial Fossa:CT and MRI Findings
Neuroradiology 37:238-243, Tortori-Donati,P.,et al, 1995
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Hemidystonia:A Report of 22 Patients & a Review of the Literature
JNNP 48:650-657, Pettigrew,L.C.&Jankovic,J., 1985
Spontaneous Spinal Cord Infarction in a Young Patient: An Overview of Clinical Features and Management
Stroke 56:58-61, Chornay,C.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 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
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,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
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Unpacking the CNS Manifestations of Epstein-Barr Virus:An Imaging Perspective
AJNR 44:1002-1008, Soni,N.,et al, 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
Clinical and Structural Findings in Patients with Lesion-Induced Dystonia
Neurol 99:e1957-e1967, Corp, D.T.,et al, 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 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
Vagus Nerve Stimulation and Seizure Outcomes in Pediatric Refractory Epilepsy
Neurol 96:1041-1051, Jain, P. & Arya, R., 2021
Complete Evaluation of Dementia: PET and MRI Correlation and Diagnosis for the Neuroradiologist
AJNR 42:998-1007, Oldan, J.D.,et al, 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
Neurol 97:e1367-e1381, Gaig, C.,et al, 2021
Determination of Brain Death
NEJM 385:2554-2561, Greer, D.M., 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Interventions for Treating Brain Arteriovenous Malformations in Adults
Stroke 51:e19-e20, Zuurbier, S.M.,et al, 2020
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
MR Imaging of the Brain in Neurologic Wilson Disease
AJNR 40:178-183, Yu, X.-E.,et al, 2019
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019