FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Neuroimaging and Clinical Features in Type II (late-onset) Alexander Disease
Neurol 82:49-56, Graff-Radford, J.,et al, 2014
A Case of Early-Onset Rapidly Progressive Dementia
JAMA Neurol 71:1445-1449, Cachia, D.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Progressive Rubella Panencephalitis
Adams & Victors Principles of Neurology, Chp 33, pg 766, Ropper, A.H.,et al, 2014
Clinicopath Conf, Neuro-Behcets Disease
NEJM 360:2341-2351, Case 17-2009, 2009
Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995
Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Progressive Rubella Panencephalitis
In Handbk of Clin Neurol, Vinken & Bruyn, Ed, N Holland Publ Co, 56:405-416, Wolinsky,J.S., 1990
The Acquired Immunodeficiency Syndrome (AIDS) Dementia Complex
Ann Int Med 111:400-410, Ho,D.D.,et al, 1989
Progressive Spastic Paraparesis & Adrenal Insufficiency
Arch Neurol 33:678, Gumbinas,M.,et al, 1976
The Thyroid Gland:Its Relationship to Neurology
In Handbook of Clin Neurol, Vinken & Bruyn (Ed) , North Holland Publ Co, Amsterdam 27:255, Greene,R., 1976
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
Vascular Malformations of the Central Nervous System
www.UptoDate.Com, March, Singer,R.J.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neurologic Complications of Babesiosis, United States, 2011-2021
Emerg Inf Dis 29:1127-1135, Locke,S.,et al, 2023
Functional Neurological Disorders
Neurologist 27:276-289, Mishra, A. & Pandey, S., 2022
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020
Vitamin B6 Deficiency Presenting with New-Onset Epilepsy and Status Epilepticus in a Patient with Parkinson Disease
Neurol 94:e2605-e2607, Modica, J.S.,et al, 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Hand Posture as Localizing Sign in Adult Focal Epileptic Seizures
Ann Neurol 86:793-800, Ferando, I.,et al, 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
CNS Posttransplant Lymphoproliferative Disorder
Neurol 89:e32-e37, Kesari, N.K.,et al, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Distinguishing Neuroimaging Features in Patients Presenting with Visual Hallucinations
AJNR 37:774-781, Winton-Brown, T.T.,et al, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
Cerebral Palsy
Lancet 383:1240-1248, Colver, A.,et al, 2014
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
The Acquired Metabolic Disorders of the Nervous System, Carbon Monoxide Poisoning
Adams & Victors Principles of Neurology Chp 40, pg 1138, Ropper, A.H.,et al, 2014
Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Late onset autism and anti-NMDA-receptor encephalitis
Lancet 378:98;378, Creten, C.,et al, 2011
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Long-Term Outcomes Among Adult Survivors of Childhood Central Nervous System Malignancies in the Childhood Cancer Survivor Study
J Natl Cancer Inst 101:946-958, Armstrong,G.T.,et al, 2009
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Sexual Function in Men and Women With Neurological Disorders
Lancet 369:512-525, Rees,P.M.,et al, 2007
Quetiapine for Agitation or Psychosis in Patients with Dementia and Parkinsonism
Neurol 68:1356-1363, Kurlan,R.,et al, 2007