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
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
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
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Seizures and Encephalitis in Myelin Oligodendrocyte Glycoprotein IgG Disease vs Aquaporin 4 IgG Disease
JAMA Neurol 75:65-71, Hamid, S.H.M.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Characteristics in Limbic Encephalitis with Anti-Adenylate Kinase 5 Autoantibodies
Neurol 88:514-524,508, Do, L. & Chanson, E., 2017
Clinicopathologic Conference, Advanced AIDS Complicated by HSV-1 Encephalopathy. Basal-Cell Carcinoma. Kaposis Sarcoma.
NEJM 376:2580-2589, Case 20-2017, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Encephalitis and AMPA Receptor Antibodies
Neurol 84:2403-2412, Hoftberger, R.,et al, 2015
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
Clinical Specificities of Adult Male Patients with NMDA Receptor Antibodies Encephalitis
Neurol 82:556-563, Viaccoz, A.,et al, 2014
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
Paraneoplastic Neurological Syndromes
Clin Exp Immunol 175:336-348, Leypoldt, F. & Wandinger, K.-P., 2014
Misdiagnosis of Treatable Stroke Mimic: The Case for HIV Screening in Practice Guidelines
Neurohosp 3:125-130, Finelli, P.F., 2013
Evidence-Based Path to Newborn Screening for Duchenne Muscular Dystrophy
Ann Neurol 71:304-313, Mendell,J.R.,et al, 2012
Central Nervous System Neuronal Surface Antibody Associated Syndromes: Review and Guidelines for Recognition
JNNP 83:638-645, Zuliani,L.,et al, 2012
Autoimmune Epilepsy
Arch Neurol 69:582-593,565, Quek, A.M.L.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Screening for tumours in paraneoplastic syndromes: report of an EFNS Task Force
Eur J Neurol 18:19-27, Titulaer, M.J.,et al, 2011
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
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Autoimmune Limbic Encephalitis with GAD Antibodies
The Neurohospitalist 1:178-181, Finelli, P.F., 2011
Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
Neurol 74:57-63, Pantoni,L.,et al, 2010
Positron Emission Tomography-Computed Tomography in Paraneoplastic Neurologic Disorders: Systematic Analysis and Review
Arch Neurol 67:322-329, McKeon,A.,et al, 2010
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
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
A New Cause of Limbic Encephalopathy
Brain 128:1745-1746, Darnell,R.B., et al, 2005