X-linked Muscular Dystrophy
Ann Neurol 2:414, Furukawa,T.,et al, 1977
Chronic Hexosaminidase A & B Deficiency
et al. , Ann Neurol 2:156977., Goldie,W.D., 1977
Juvenile Diabetes Mellitus & Optic Atrophy
Arch Neurol 34:759, Lessell,S.,et al, 1977
Spinocerebellar Ataxia & HLA Linkage:Risk Prediction by HLA Typing
NEJM 296:1138, Jackson,J.F.,et al, 1977
Familial Spasmodic Torticollis
Neurol 27:11, Gilbert,G.J., 1977
Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977
Familial Nonprogressive Involuntary Movements of Childhood
Ann Neurol 1:602 1977., Damasio,H.,et al, 1977
Gilles de la Tourette's syndrome:Clinical, Genetic, Psychologic, & Biochemical Aspects in 21 Selected Families
Neurol 27:115, Eldridge,R.,et al, 1977
Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome
NEJM 296:210, VanWoert,M.H.,et al, 1977
Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
Arch Neurol 34:101, Adams,H.P.,et al, 1977
Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
Arch Neurol 34:123, Singh,N.,et al, 1977
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
Arch Neurol 34:408, Ringer,S.P.,et al, 1977
Familial Idiopathic Cerebral Calcifications
et al. , JNNP 40:280977., Boller,F., 1977
Duane Syndrome & Congential Upper-Limb Anomalies:A Familial Occurrence
Arch Neurol 34:174, Okihiro,M.M.,et al, 1977
Juvenile Parkinsonism Treated with Levodopa
Arch Neurol 34:244, Sachdev,K.K.,et al, 1977
Familial Essential Myoclonus
Brain 93:131-138, Korten,J.J.,et al, 1977
Progressive Spastic Paraparesis & Adrenal Insufficiency
Arch Neurol 33:678, Gumbinas,M.,et al, 1976
Nerve-Growth Factor in Familial Dysautonomia
NEJM 295:671, Montalcini,R.L., 1976
Low Activities of the Pyruvate & Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia
NEJM 295:62, Blass,J.P.,et al, 1976
Cause of Weakness in Myasthenia Gravis
NEJM 294:722, Grob,D., 1976
Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
et al NEJM 293:1017, Waters,D.D., 1975
Diagnosis of Fabry's Disease by Tear-Galactosidase A-Correspondence NEJM 290:57
1974., , 1974
Specific Laboratory Test for Diagnosis of MS
BMJ 1:412, Field,E.J.,et al, 1974
Unrecognized Adult Phenylketonuria
NEJM 289:395, 1973, 289:1040, 1973, 290:1084., Perry,T.,et al, 1974
Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
NEJM 289:286, Hecht,F.,et al, 1973
Niemann-Pick Disease
Correspondence NEJM 289:590, Dacremont,G.,et al, 1973
Infantile Metachromatic Leukodystrophy
NEJM 288:1365, 14051973., Leroy,J.,et al, 1973
Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973
Tay-Sachs Disease-The Use of Tears for the Detection of Heterozygotes
NEJM 289:1072, Carmody,P.,et al, 1973
Teratogenic Effect of Anticonvulsnats
Lancet 198, 1973 Jan., , 1973
Pathology of Malignant Hyperpyrexia
BMJ Editorial 249, 1973, Feb., , 1973
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
Treating Problem Children with Stimulant Drugs
NEJM 289:407, Sroufe,L.A.,et al, 1973
Hereditary Quadriceps Myopathy
JNNP 36:1041, Espir,M.L.E.,et al, 1973
Use of L-Dopa in the Detection of Presymptomatic Huntington's Chorea
NEJM 286:1332, Klawans,H.,et al, 1972
Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
Familiar Basilar Impression
Neurol 22:554, Paradis,R.,et al, 1972
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Pediatric Neurology
Psych Annals 2:1, , 1972
Ethical & Social Issues in Screening for Genetic Disease-Screening for Genetic Disease-A Group Report
NEJM 286:1129, 1972, 286:1155972., , 1972
Maternal Epilepsy & Abnormalities of the Fetus & Newborn
Lancet 839, Oct1972., Speidel,B.,et al, 1972
Presymptomatic Detection of Huntington's Chorea
BMJ 540, 1972 Sept., , 1972
Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
Neurol 22:49, Nakano,K.K.,et al, 1972
Preclinical Detection of Dystrophia Myotonica
BMJ 124, 1972 April., , 1972
Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972
The Mucopolysaccharidoses
(Ed) , 4th Edition, the C. V. Mosby Co, 1971, Chp. 11, p. p. 521-686., McKusick,V.A., 1971
Dominant Juvenile Optic Atrophy
Arch Ophthalmol 85:133, Caldwell,J.,et al, 1971
Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970
Hunter's Syndrome, In Recognizable Patterns Of Human Malformation, Genetic, Embryologic, & Clinical Aspects, by Smith
W. B. , Saunders Co. , 1970, 248-249., David,W., 1970