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Differential
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familial
gene
gene mutation
genetic screening
genetic testing
leucine-rich repeat kinase 2 gene
Parkinson disease
Parkinson disease, familial
Showing articles 1550 to 1600 of 1619 << Previous Next >>

Neuroectodermal Tumors in the Cerebellum in Two Sisters
JNNP 40:886, Thomas,M.,et al, 1977

Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
Ann Neurol 2:473, deLeon,G.A.,et al, 1977

CT Scanning & Diagnosis of Adrenoleukodystrophy
Neurol 27:884, Greenberg,H.S.,et al, 1977

An unusual Cause of Apparent Epilepsy:ECG & EEG Findings in a Case of Jervell Lange-Neilson Syndrome
JNNP 40:1102, Selby,P.J.,et al, 1977

Familial Paroxysmal Dystonic Choreoathetosis & its Differentiation From Related Syndromes
Ann Neurol 2:285, Lance,J.W., 1977

Hereditary Chorea Without Dementia
JNNP 40:687, Behan,P.O.,et al, 1977

Clinical Neurogenetics
Neurol 27:1057, Bird,T.D.,et al, 1977

Prenatal Diagnosis of Duchenne's Muscular Dystrophy
NEJM 297:968, Mahoney,M.J.,et al, 1977

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

Intracranial Aneurysms:Characteristics of Aneurysms in Siblings
NEJM 297:115, 1977. (Letter), Andrews,R.J., 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

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

Myasthenic Abduction Nystagmus in a Patient with Hyperthyroidism
Neurol 26:589, Finelli,P.F.&Hoyt,W., 1976

Progressive Spastic Paraparesis & Adrenal Insufficiency
Arch Neurol 33:678, Gumbinas,M.,et al, 1976

Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
et al NEJM 293:1017, Waters,D.D., 1975

Specific Laboratory Test for Diagnosis of MS
BMJ 1:412, Field,E.J.,et al, 1974

Diagnosis of Fabry's Disease by Tear-Galactosidase A-Correspondence NEJM 290:57
1974., , 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

Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,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

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

The Facioscapulohumeral Synd, in Clinical Studies in Myology, Amsterdam, Excerpta Medica
p498-501, VanWijngaarden,G.K.&Bethlem,J., 1973

Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972

Familiar Basilar Impression
Neurol 22:554, Paradis,R.,et al, 1972

Maternal Epilepsy & Abnormalities of the Fetus & Newborn
Lancet 839, Oct1972., Speidel,B.,et al, 1972

Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
Neurol 22:49, Nakano,K.K.,et al, 1972

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972



Showing articles 1550 to 1600 of 1619 << Previous Next >>