GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Conjugal Multiple Sclerosis
In Handbook of Clinical Neurol, Elsivier Publ, Amsterdam 47:291985., Myrianthopoulos,N.C., 1985
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
BMJ 290:350-352, Wintzen,A.R.,et al, 1985
Creutzfeldt-Jakob Disease Prion Proteins in Human Brains
NEJM 312:73-78, Bockman,J.M.,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
Familial Infantile Myasthenia Gravis
Arch Neurol 42:143-144, Gieron,M.A.,et al, 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
Metachromatic Leukodystrophy Manifesting as a Schizophrenic Disorder:Computed Tomographic Correlation
Ann Neurol 18:94-95, Finelli,P.F., 1985
Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Arch Neurol 42:1008-1010, Katz,D.A.,et al, 1985
Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
Arch Neurol 42:757-758, Trauner,D.A., 1985
Dystonia & Calcification of the Basal Ganglia
Neurol 35:533-537, Larsen,T.A.,et al, 1985
Gilles de la Tourette's Syndrome, A Review of Clinical, Research & Future Directions for Investigation
Arch Neurol 42:393-397, Caine,E.D., 1985
Hypomelanosis of Ito:Association with a Chromosomal Abnormality
Neurol 35:607-610, Miller,C.A.,et al, 1985
MR Imaging in Fahr Disease
J Comput Assist Tomogr 9:790-792, Scotti,G.,et al, 1985
Adult GM1-Gangliosidosis:Clinical Patterns & Rectal Biopsy
Neurol 35:875-880, Nakano,T.,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
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
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
Clin. Path. Conference
Coproporphyria with Polyneuropathy, Case Record 39-1984, NEJM 311:839-847984., , 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
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 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
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
Familial Spastic Paraplegia, Mental Retardation, & Precocious Puberty
Arch Neurol 40:809-810, Raphaelson,M.I.,et al, 1983
Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983