Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
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
Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
NEJM 311:920-921, Brauner,R.,et al, 1984
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Ultrastructure & Electrodiagnosis of Peripheral Neuropathy in Cockayne's Syndrome
Neurol 33:1606-1609, Grunnet,M.L.,et al, 1983
Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
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Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983
Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980
Child Abuse as a Cause of Post-Traumatic Hypopituitarism
NEJM 302:724-728, Miller,W.L.,et al, 1980
Enlarged Cerebral Ventricular System in Infant Achondroplastic Dwarf
Neurol 30:767-769, Mueller,S.M., 1980
Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979
Paraparesis in Hereditary Multiple Exostoses:Case Report
Neurol 29:973-977, Ferrari,G.,et al, 1979
Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
Neurol 29:1057-1061, Markesbery,Wm.R., 1979
Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Familial Hypopituitarism with Large Sella Turcica
NEJM 298:698, Parks,J.S.,et al, 1978
A Case of Schwartz-Jampel Syndrome with Unusual Muscle Biopsy Findings
Ann Neurol 3:93, Fariello,R.,et al, 1978
Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
Arch Neurol 35:337, Brumback,R.A.,et al, 1978
Growth & Development in Children with Sickle-Cell Trait
NEJM 299:686-689, Kramer,M.S.,et al, 1978
A Syndrome of Progressive Muscle Spasm, Alopecia, & Diarrhea
Neurol 28:458, Satoyoshi,E., 1978
Chronic Hydrocephalus Associated with Short Stature & Growth Hormone Deficiency
Ann Neurol 2:246, Hier,D.B.,et al, 1977
A Comparison of the Physical & Intellectual Development of Black Children with & without Sickle-Cell Trait
Pediatrics 56:1021, McCormack,M.K.,et al, 1975
Germinoma of third Ventricle (Case Record of MGH)
NEJM 293:653, Locke,S.,et al, 1975
Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
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Congenital Anomalies & Herpesvirus Infection
Am J Dis Child 126:364, Montogomery,J.R.,et al, 1973
Treating Problem Children with Stimulant Drugs
NEJM 289:407, Sroufe,L.A.,et al, 1973
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Depression of Growth in Hyperactive Children on Stimulant Drugs
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The Mucopolysaccharidoses
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W. B. , Saunders Co. , 1970, 248-249., David,W., 1970
Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964
The Cornelia de Lange Syndrome
J Pediatr 63:1000-1020, Ptacek,L.J., 1963
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.A., 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A 72-Year-Old Man With Meningoencephalitis
Neurol 104:e213658, Isaza-Pierotti,D.F.,et al, 2025
Diffusely Enhancing Lesions on MRI in DPPX Antibody-Associated Encephalitis
JAMA Neurol 8:418-419, Liu,M.,et al, 2024
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
A 30-Year-Old Woman Presenting with Rapidly Progressive Dementia and Extreme Hypoglycorrhachia
Neurol 102:e209188, Bai,X.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Clinicopathologic Conference, Infective Endocarditis Due to Haemophilus Parainfluenza
NEJM 391:2148-2157, Case 38-2024, 2024
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Paraneoplastic Calmodulin Kinase-Like Vesicle-Associated Protein (CAMKV) Autoimmune Encephalitis
Ann Neurol 96:21-33, Gilligan,M.,et al, 2024
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
Clinicopathologic Conference, Legionella Infection Complicated by Rhabdomyolysis
NEJM 391:1039-1048, Case 29-2024, 2024
A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024