Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
Neurol 87:579-584, Berkovic, S.F.,et al, 2016
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Frequency of AQP4 and MOG Antibodies in Patients with Optic Neuritis Fulfilling Minimal New Multiple Sclerosis MRI Criteria
Neurol 106:e214753, Deschamps,R.,et al, 2026
Diagnostic Value of the Kappa Free light Chain Index to Distinguish MOGAD, NMOSD, and MS
Neurol 106:e214946, Tournier,A.,et al, 2026
Inflammatory Myopathies
NEJM 394:1925-1938, AllenBach,Y. & Benveniste,O., 2026
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
Myelin Oligodendrocyte Glycoprotein Antibody - Associated Cerebral Cortical Encephalitis: A Case Report Highlighting Diagnostic Challenges and Therapeutic Implications
Front Immunol 16:1619807, Liu,M. & Li, D., 2025
Magnetic Resonance Imaging Characteristics of LGl1-Antibody and CASPR2-Antibody Encephalitis
JAMA Neurol 81:525-533, Kelly,Mark J., et al, 2024
Validation of the 2023 International Diagnostic Criteria for MOGAD in a Selected Cohort of Adults and Children
Neurol 103:e209321, Varley,J.A.,et al, 2024
Slowly Expanding Lesions Differentiate Pediatric Multiple Sclerosis from Myelin Oligodendrocyte Glycoprotein Antibody Disease
Ann Neurol 96:1086-1091, Fadda,G.,et al, 2024
Autoimmune Encephalitis Misdiagnosis in Adults
JAMA Neurol 80:30-39, Flanagan,E.P.,et al, 2023
Should We Test for IgG Antibodies Against MOG in Both Serum and CSF in Patients with Suspected MOGAD?
Neurol 100:497-498, Kim,H.J. & Palace, J., 2023
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Clinical Features and Diagnosis
UptoDate.com, March, Flanagan,E.P. & Tillema,J-M, 2023
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD):Clinical Features and Diagnosis
www.UptoDate.com, Sept, Flanagan,E.P. & Tillema,J-M, 2023
Diagnosis of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease:International MOGAD Panel Proposed Criteria
Lancet Neurol doi.org110.1016/51474-4422(22)00431-8, Banwell,B.,et al, 2023
Neuromyelitis Optica Spectrum Disorder
NEJM 387:631-639, Wingerchuk, D.M. & Lucchinetti, C.F., 2022
Autoimmune Nodopathies, An Emerging Dignostic Category
Curr Opin Neurol 35:579-585, Martin-Agullar, L.,et al, 2022
Paraneoplastic Myeloneuropathies
Neurol 96:e632-e639, Shah, S.,et al, 2021
Single Photon Emission Computed Tomography/Positron Emission Tomography Molecular Imaging for Parkinsonism: A Fast-Developing Field
Ann Neurol 90:711-719, Verger, A.,et al, 2021
Autoimmune Encephalitis Related to Cancer Treatment with Immune Checkpoint Inhibitors
Neurol 97:e191-e202, Nersesjan, V.,et al, 2021
Anti-cN1A Antibodies are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis
Cells 10:1146, Lucchini,M.,et al, 2021
Limitations of a Commercial Assay as Diagnostic Test of Autoimmune Encephalitis
Front Immunol 12:691536, Ruiz-Garcia,R.,et al, 2021
Diagnostic Tools for Immune Causes of Encephalitis
Clin Microbiol Infect 25:431-436, Lascano, A.M.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Evaluation of Idiopathic Transverse Myelitis Revealing Specific Myelopathy Diagnoses
Neurol 90:e96-102, Zalewski, N.L.,et al, 2018
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 2018
MOG Encephalomyelitis: International Recommendations on Diagnosis and Antibody Testing
J Neuroinflammation 15:134, Jarius, S.et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Investigations in GABA? Receptor Antibody-Associated Encephalitis
Neurol 88:1012-1020,1010, Spatola, M.,et al, 2017
Neurological Autoantibody Prevalence in Epilepsy on Unknown Etiology
JAMA Neurol 74:397-402,384, Dubey, D.,et al, 2017
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Autoimmune Encephalitis: Pathophysiology and Imaging Review of an Overlooked Diagnosis
AJNR 38:1070-1078, Kelley, B.P.,et al, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Myasthenia Gravis
NEJM 375:2570-2581, Gilhus, N.E.,et al, 2016
Multiple-System Atrophy
NEJM 372:249-263, Fanciulli, A. & Wenning, G.K., 2015