Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990
Neuroaxonal Dystrophy Due to Lysosomal a-N-Acetylgalactosaminidase Deficiency
NEJM 320:1735-1740, Schindler,D.,et al, 1989
Neurologic Complications in Long-Standing Nephropathic Cystinosis
Arch Neurol 46:543-548, Fink,J.K.,et al, 1989
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Serum Antibodies to GM1 Ganglioside in Amytrophic Lateral Sclerosis
Neurol 38:1457-1461, Pestronk,A.,et al, 1988
Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988
Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
NEJM 392:1461-1464, Gahl,W.A.,et al, 1988
Hysterical Conversion Reactions Mimicking Neurological Disease
Am J Dis Child 142:1203-1206, Bangash,I.H.,et al, 1988
Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988
Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988
Nervous System Involvement in Fabry's Disease:Clinicopath & Biochemical Correlation
Ann Neurol 23:505-509, Kaye,E.M.,et al, 1988
Regional Pain is Rarely Hysterical
Arch Neurol 45:915-918, Merskey,H., 1988
Mineralization of the Basal Ganglia Detected by CT in Hallervorden-Spatz Syndrome
Neurol 38:154-155, Tennison,M.B.,et al, 1988
Brief Communication: Psychogenic Sensory Loss
J Nerv Ment Dis 176:686-687, Rolak,L.A., 1988
CT in Ceroid Lipofuscinosis
Neurol 37:1025-1026, Dunn,D.W., 1987
Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986
Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
Lancet 2:772-774, Taylor,R.M.,et al, 1986
Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,et al, 1986
The Cherry-Red Spot in Tay-Sachs & Other Storage Diseases
Ann Neurol 17:356-360, Kivlin,J.D.,et al, 1985
Treatment of Peripheral Neuropathies
JNNP 48:1193-1207, Hallett,M.,et al, 1985
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
A Progressive Neurologic Disorder with Supranuclear Vertical Gaze Paresis & Distinctive Bone Marrow Cells
Mayo Clin Proc 59:404-410, Yan-go,F.L.,et al, 1984
Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis
NEJM 310:595, MacLeod,P.M.,et al, 1984
Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
Arch Neurol 41:1091-1094, Tobo,M.,et al, 1984
Nearly Fatal Muscle Carnitine Deficiency with Full Recovery after Replacement Therapy
Neurol 33:1629-1631, Prockop,L.D.,et al, 1983
Infantile Osteopetrosis & Neuronal Storage Disease
Neurol 33:437-441, Ambler,M.W.,et al, 1983
Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983
Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982
Adult Dystonic Lipidosis, Clin Histo & Biochem Findings of a Neurovisceral Storage Dis
Neurol 32:1295-1299, Longstreth,W.T.Jr.,et al, 1982
Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982
Neuroaxonal Dystrophy in Young Adults:A Clinicopathological Study of Two Unrelated Cases
Ann Neurol 11:335-343, Williamson,K.,et al, 1982
Examination of Dental Pulp to Diagnose Infantile Neuroaxonal Dystrophy
Arch Neurol 39:422-423, Carlo,J.,et al, 1982
Lipid Storage Myopathy:Successful Treatment with Propranolol
BMJ 282:1997-1999, Martyn,C.,et al, 1981
Acute Thallium Poisoning, Toxicological & Morphological Studies of the Nervous System
Ann Neurol 10:38-44, Davis,L.E.,et al, 1981
A Progressive Neurologic Syndrome In Children With Chronic Liver Disease
NEJM 304:503-508, Rosenblum,J.L.,et al, 1981
An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981
Computed Tomography in Cerebrotendinous Xanthomatosis
Neurol 31:1463-1465, Berginer,V.M.,et al, 1981
Diagnosis of Infatile Neuroaxonal Dystrophy by Skin Biopsy
Ann Neurol 7:377-379, Wisniewski,K.,et al, 1980
Adrenoleukodystrophy:Elevated C26 Fatty Acid in Cultured Skin Fibroblasts
Ann Neurol 7:542-549, Moser,H.W.,et al, 1980
Alzheimer Neurofibrillary Tangles in Diseases Other Than Senile & Presenile Dementia
Ann Neurol 5:288-294, Wisniewski,K.,et al, 1979
Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979
Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979
Carnitine Deficiency Acute Postpartum Crisis
Ann Neurol 4:558-561, Angelini,C.,et al, 1978
Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978
Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978
Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 1978
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Diagnostic Significance of Myeloperoxidase Assay in Neuronal Ceroidlipofuscinoses (Batten-Vogt Syndrome)
Neurol 28:924-927, Pilz,H.,et al, 1978
Weakness in Malignancy:Evidence for a Remote Effect of Tumor on Distal Axons
Ann Neurol 4:268-274, Barron,S.A.,et al, 1978