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
Familial Syringomyelia
JNNP 48:936-938, Busis,N.A.&Hochberg,F.H., 1985
Colpocephaly:Clinical, Radiologic, & Pathogenetic Aspects
Neurol 35:1594-1598, Herskowitz,J.,et al, 1985
Intracranial Calcification in Nephrogenic Diabetes Insipidus
JAMA 254:3349-3350, Kanzaki,S.,et al, 1985
Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
BMJ 290:350-352, Wintzen,A.R.,et al, 1985
A DNA Polymorphism for Huntington's Disease Marks the Future
Arch Neurol 42:20-24, Wexler,N.S.,et al, 1985
Prenatal Diagnosis of Congenital Toxoplasmosis
Lancet 1:500-504, Desmonts,G.,et al, 1985
Autosomal Recessive Distal Muscular Dystrophy:A Comparative Study with Distal Myopathy with Rimmed Vacuole Formation
Ann Neurol 17:51-59, Nonaka,I.,et al, 1985
Prenatal Diagnosis of Cockayne's Syndrome
Lancet 1:486-488, Lehmann,A.R.,et al, 1985
Late-Onset Hallervorden-Spatz Disease Presenting as Familial Parkinsonism
Neurol 35:227-234, Jankovic,J.,et al, 1985
Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Chediak-Higashi Syndrome
Arch Neurol 41:1001-1002, Pettit,R.E.,et al, 1984
Congenital Hydrocephalus & Eye Abnormalities with Severe Developmental Brain Defects:Warburg's Syndrome
Ann Neurol 16:60-65, Bordarier,C.,et al, 1984
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
Familial Occurrence of Amyotrophic Lateral Sclerosis, Parkinsonism, & Dementia
Ann Neurol 16:642-648, Schmitt,H.P.,et al, 1984
Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
Arch Neurol 41:1091-1094, Tobo,M.,et al, 1984
Adrenoleukodystrophy:Survey of 303 Cases:Biochemistry, Diagnosis, & Therapy
Ann Neurol 16:628-641, Moser,H.W.,et al, 1984
Abnormal Metabolism of y-Trace Alkaline Microprotein
NEJM 311:1547-1549, Grubb,A.,et al, 1984
Genetic Testing in Huntington's Disease
Ann Neurol 16:511-513, Koller,W.C.,et al, 1984
Machado-Joseph-Azorean Disease
Arch Neurol 41:921-925, Fowler,H.L., 1984
Familial Multisystem Atrophy with Possible Thalamic Dementia
Neurol 34:1213-1217, Katz,D.A.,et al, 1984
Hereditary Adult-Onset Leukodystrophy Simulating Chronic Progressive Multiple Sclerosis
NEJM 311:948-953, Eldridge,R.,et al, 1984
MR Imaging of Familial Basilar Impression
J Comput Assist Tomogr 8:953-956, Bewermeyer,H.,et al, 1984
Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
Am J Med 77:86-92, Press,O.L.W.,et al, 1984
Autosomal Dominant Transmission of the"Photic Sneeze Reflex"
NEJM 310:599-600, Peroutka,S.J.,et al, 1984
Molecular Genetics, Recombinant DNA Techniques, & Genetic Neurological Disease
Ann Neurol 15:511-520, Rosenberg,R.N., 1984
Familial Occurrence of Idiopathic Normal-Pressure Hydrocephalus
Arch Neurol 41:335-337, Portenoy,R.K.,et al, 1984
Nemaline Myopathy Appearing in Adults as Cardio-myopathy
Arch Neurol 41:443-445, Meier,C.,et al, 1984
Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
Leber's Congenital Amaurosis
Arch Neurol 41:204-206, Weinstein,J.M.,et al, 1984
The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis
NEJM 310:595, MacLeod,P.M.,et al, 1984
Adrenoleukodystrophy:Clinical & Biochemical Manifestations in Carriers
Neurol 34:798-801, O'Neill,B.P.,et al, 1984
Parental Transmission in Huntington's Disease
Lancet 1:1100-1102, Went,L.N.,et al, 1984
Wilson's Disease
BMJ 288:1180-1181, Parkes,D., 1984
Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984
Clin. Path. Conference
Coproporphyria with Polyneuropathy, Case Record 39-1984, NEJM 311:839-847984., , 1984
Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983
Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
Brain 106:965-979, Rebollo,M.,et al, 1983
Gerstmann-Straussler-Scheinker Disease with Coincidental Familial Onset
Ann Neurol 14:670-678, Hudson,A.J.,et al, 1983
Idiopathic Hemochromatosis (IHC) :Dementia & Ataxia as Presenting Signs
Neurol 33:1479-1483, Royden,H.,et al, 1983
A Genetic Marker for Huntington's Chorea
BMJ 287:1567-1568, Harper,P.S., 1983
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Huntington's Chorea:Neglected Opportunities for Preventive Medicine
Lancet 1:634-636, Martindale,B.,et al, 1983
Familial Paroxysmal Dystonic Choreoathetosis & Response to Alternate-Day Oxazepam Therapy
Ann Neurol 13:456-457, Kurlan,R.,et al, 1983
Family Studies in Tuberous Sclerosis
JAMA 249:1302-1304, Cassidy,S.B.,et al, 1983
A Family with Histologially Confirmed Alzheimer's Disease
Arch Neurol 40:203-208, Nee,L.E.,et al, 1983
Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
Neurol 33:81-86, Bird,T.D.,et al, 1983
Hyperekplexia
Arch Neurol 40:246-248, Kurczysnki,T.W., 1983