Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Detection of Urea Cycle Enzymopathies in Childhood
Arch Neurol 41:758-760, Trauner,D.A.,et al, 1984
Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
Arch Neurol 41:1293-1296, Dave,P.,et al, 1984
Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis
NEJM 310:1630-1634, Brushlow,S.W.,et al, 1984
Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
NEJM 305:1106-1111, Lloyd,K.G.,et al, 1981
Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980
Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980
Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979
Multiple Molecular Forms of Arylsulfatase in Different Forms of Metachromatic Leukodystrophy (MLD)
Neurol 29:16-20, Farrell,D.F.,et al, 1979
Spinal Cord Compression by Extramedullary Hemopoietic Tissue in Pyruvate-Kinase-Deficiency-Caused Hemolytic Anemia
Neurol 29:510-513, Rutgers,M.J.,et al, 1979
Spinocerebellar Degeneration:Hexosaminidase A & B Deficiency in Two Adult Sisters
Neurol 29:380-384, Oonk,J.G.W.,et al, 1979
Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979
Reduction of Angiotensin-Converting Enzyme in Substantia Nigra in Early-Onset Schizophrenia
NEJM 300:502-503, Arregui,A.,et al, 1979
Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978
Fatal Infantile Form of Muscle Phosphorylase Deficiency
Neurol 28:1124-1129, DiMauro,S.,et al, 1978
Adult-onset GM2 Gangliosidosis
Neurol 28:1117-1123, O'Neill,B.,et al, 1978
Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
The Cherry-red Spot-Myoclonus Syndrome
Ann Neurol 3:234, Rapin,I.,et al, 1978
Late Adult-onset Metachromatic Leukodystrophy
Arch Neurol 35:475, Bosch,E.P., 1978
Possible Biochemical Basis of Memory Disorder in Alzheimer Disease
Ann Neurol 3:471, Smith,C.M.,et al, 1978
Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977
Chronic Hexosaminidase A & B Deficiency
et al. , Ann Neurol 2:156977., Goldie,W.D., 1977
Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome
NEJM 296:210, VanWoert,M.H.,et al, 1977
The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977
Abnormality of a Thiamine-Requiring Enzyme in Patients with Wernicke-Korsakoff Syndrome
NEJM 297:1367, Blass,J.P.,et al, 1977
Possible Pathophysiology of Neurologic Abnormalities assoc. with Nonketotic hyperglycinemia
NEJM 294:1295, Ramson,B.R., 1976
Specificity of the Urine Inhibitor Test for Leigh's Disease
Neurol 24:885, Pincus,J.H.,et al, 1974
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
Subacute Necrotizing Encephalopathy in Late Adolescence
Arch Neurol 18:478, Hardman,J.M.,et al, 1968
Clinicopathologic Conference, Infective Endocarditis Due to Haemophilus Parainfluenza
NEJM 391:2148-2157, Case 38-2024, 2024
Neuroleptic Malignant Syndrome
NEJM 391:1130-1138, Wijdicks,E.F.M. & Ropper,A.H., 2024
Clinicopatholigical Conference, Plasmodium Falciparum Malaria
NEJM 309:549-556, Case 4-2024, 2024
A 60-Year Old Man with Asymmetric Weakness and Persistent Fever
Neurol 100:530-536, Zheng,Y.,et al, 2023
Posterior Reversible Encephalopathy Syndrome
NEJM 388:2171-2178, Geocadin,R.G., 2023
Sweet Syndrome
Stat Pearls www.ncbi.nlm.gov, Sept, Goyal,V.P. & Holmes,H, 2022
A Case of Acute Akinetic Mutism and Encephalopathy
Neurol 99:761-766, Jain, V.,et al, 2022
Confused About Confusion
NEJM 386:80-87, Spanjaart, A.M.,et al, 2022
Spontaneous Escherichia Coli Meningitis and Brain Abscess in an Immunocompetent Adult
Cureus doi.10.7759/CUREUS.208728, Jeter,K.et al, 2022
Clinical Presentation, Diagnosis, and Treatment of Atrioesophageal Fistula Resulting From Atrial Fibrillation Ablation
J Cardiovasc Electrophysiol 32:2441-2450, Della Rocca,D.G.,et al, 2021
A 71-Year-Old Man with Horizontal Gaze Palsy, Anarthria, and Quadriparesis
Neurol 96:1146-1150, Cheema, I.,et al, 2021
A 55-Year-Odd Man with Old Behavior and Abnormal Movements
Neurol 97:1090-1093, McIntosh, P. & Scott, B., 2021
Clinicopathologic Conference, Borrelia Miyamotoi Infection
NEJM 383:1578-1586, Case 32-2020, 2020
Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020
Bilateral Middle Cerebellar Peduncle Lesions:Neuroimaging Features and Differential Diagnoses
Brain Behav 10:e01778, Jiang,J.,et al, 2020
A 70-year-old Man with Rapid Stepwise Paraparesis and Sensory Loss
Neurol 94:e651-e655, Krause, M.A.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A Case of Acute Encephalopathy and Rigidity in a 30-Year-Old Man
Neurol 93:759-763, Hurtubise, B. & MacLellan, A., 2019
A Pregnant Woman with Chin Numbness
Neurol 92:e996-e999, Arnold, A.J.,et al, 2019