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Filter Applied: genetic neurologic disorders (Click to remove)

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

Creutzfeldt-Jakob Disease:Patterns of Worldwide Occurrence & the Significance of Familial & Sporadic Clustering
Ann Neurol 5:177-188, Masters,C.L.,et al, 1979

Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023

Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018

CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012

Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005

Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
Lancet 356:713-718, Shapiro,E. et al, 2000

Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996

Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
Ann Int Med 120:133-134, Skinner,M.,et al, 1994

Wilson's Disease:Current Status
Am J Med 92:643-654, Yarze,J.C.,et al, 1992

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
NEJM 322:28-32, 541990., Krivit,W.,et al, 1990

Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990

Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988

Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987

Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
Neurol 36:432-435, Darras,B.T.,et al, 1986

Alzheimer's Disease
NEJM 314:964-973, Katzman,R., 1986

Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986

Tangier Disease (Hypo-a-Lipoproteinemia)
Textbook of Child Neurology, 3rd Ed. , Phila, Lea & Febiger, Ch 1, p 86, Menkes,J.H., 1985

The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.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

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983

Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978

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

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

Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962



Showing articles 0 to 29 of 29