Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
Evidence-Based Path to Newborn Screening for Duchenne Muscular Dystrophy
Ann Neurol 71:304-313, Mendell,J.R.,et al, 2012
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Rationale for Screening Children with Hereditary Hemorrhagic Telangiectasis for Brain Vascular Malformations
AJNR 45:1177-1184, Beslow,L.A.,et al, 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Review of Vitamin B12 Deficiency in Pregnancy:A Diagnosis Not to Miss as Veganism and Vegetarianism Become More Prevalent
Eur J Haematol 106:450-455, Rashid,S.,et al, 2021
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 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
Recurrent Epistaxis in an Adolescent
BMJ 367:I5393, McLaren, O. & Ronan, N., 2019
Characteristics in Limbic Encephalitis with Anti-Adenylate Kinase 5 Autoantibodies
Neurol 88:514-524,508, Do, L. & Chanson, E., 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
Clinical Spectrum of Encephalitis Associated with Antibodies Againts the a-Amino-3-Hydroxy-5-Methyl-4-Isoxazoleproprionic Acid Receptor
JAMA Neurol 72:1163-1169, Joubert, B.,et al, 2015
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
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Clinicopathologic Conferences, Celiac Disease, Addisons Disease, and Major Depression Disorder
NEJM 368:2015-2024, Case 16-2013, 2013
The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies
Medicine 92:223-243, Rider, L.,et al, 2013
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Predicting Alzheimer Disease with �-Amyloid Imaging: Results from the Australian Imaging, Biomarkers, and Lifestyle Study of Ageing
Ann Neurol 74:905-913, Rowe, C.C.,et al, 2013
Autoimmune Epilepsy
Arch Neurol 69:582-593,565, Quek, A.M.L.,et al, 2012
Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011
Encephalitis and antibodies to synaptic and neuronal cell surface proteins
Neurol 77:179-189, Lancaster, E.,et al, 2011
Contemporary management and recent advances in paediatric hydrocephalus
BMJ 343:d4191, Kandasamy, J.,et al, 2011
Recent Advances in Neuroblastoma
NEJM 362:2202-2011, Maris,J.M., et al, 2010
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009