Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
Neurol 39:741-742, Friedman,J.H.,et al, 1989
Prediction of Carotid Stenosis Progression by Lipid & Hematologic Measurements
Neurol 39:1325-1331, Grotta,J.C.,et al, 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Persistent Cognitive Impairment in Climbers after Repeated Exposure to Extreme Altitude
Neurol 39:210-213, Regard,M.,et al, 1989
Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989
Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
Neuropsychological Test Findings in Subjects with Leukoaraiosis
Arch Neurol 46:40-44, Rao,S.M.,et al, 1989
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
Am J Ophthalmol 107:624-631, Lambert,S.R.,et al, 1989
Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988
Clinicopath Conf
Antiphospholipid-Antibody Syndrome, ANA-Negative Systemic Lupus Erythematosus, Case Study 37-1988, N, JM :699-712,1988., 1988
Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
MR Imaging in a Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 11:1057-1058, Tanfani,G.,et al, 1987
Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987
A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
Ann Neurol 21:230-231, 240-2491987., Moser,A.B.,et al, 1987
Adult-Onset Spinocerebellar Syndrome with Idiopathic Vitamin E Deficiency
Ann Neurol 22:84-87, Yokota,T.,et al, 1987
Childhood Stroke Associated with Protein C or S Deficiency
J Pediatr 111:562-564, Israels,S.J.&Seshia,S.S., 1987
Cerebral Ventricular Dilation in Congenital Myotonic Dystrophy
J Pediatr 111:372-376, Regev,R.,et al, 1987
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
Neurol 37:446-450, Larsen,R.,et al, 1987
Cognitive & Neurologic Findings in Subjects with Diffuse White Matter Lucencies on CT Scan (Leuko-Araiosis)
Arch Neurol 44:32-35, Steingart,A.,et al, 1987
Preventive Screening for Fragile X Syndrome
Editorial, Lancet 2:1191-11921986., , 1986
Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
NEJM 315:744-747, DiMagno,E.P.,et al, 1986
Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986
Transketolase Abnormality in Tolazamide-Induced Wernicke's Encephalopathy
Neurol 36:1508-1510, Mukherjee,A.B.,et al, 1986
Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
Arch Neurol 43:677-680, Mito,T.,et al, 1986
Clinicopath Conf
Tuberous Sclerosis, Case 41-1986, NEJM 315:1013-1022986., , 1986
Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Ann Neurol 20:89-91, Argov,Z.,et al, 1986
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
BMJ 290:350-352, Wintzen,A.R.,et al, 1985
Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
NEJM 313:16-19, 43-441985., Wolf,B.,et al, 1985
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
Arch Neurol 41:1091-1094, Tobo,M.,et al, 1984
Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984
Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
Neurol 33:267-277, Stein,S.A.,et al, 1983
Myeloneuropathy & Macrocytosis Associated with Nitrous Oxide Abuse
Arch Neurol 40:416-418, Bianco,G.,et al, 1983
Familial Spastic Paraplegia, Mental Retardation, & Precocious Puberty
Arch Neurol 40:809-810, Raphaelson,M.I.,et al, 1983