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Showing articles 0 to 42 of 42

Filter Applied: leukodystrophy (Click to remove)

A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016

Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000

A Young Man With Subacute Onset of Spastic Paraparesis
Neurol 100:199-205, Rossi,S.,et al, 2023

Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021

Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
Adams & Victors Principles of Neurology, Chp 37, pg 959, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

Leukodystrophies: Classification, Diagnosis, and Treatment
Neurologist 15:319-328, Costello,D.,et al, 2009

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

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

Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
The Neurologist 10:201-215, Kalman,B. &Leist,T.P., 2004

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

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997

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

Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997

Progressive Familial Leukodystrophy of Late Onset
Neurol 46:429-434, Knopman,D.,et al, 1996

Cognitive and Brain Magnetic Resonance Imaging Findings in Adrenomyeloneuropathy
Ann Neurol 40:675-678, Edwin,D.,et al, 1996

Hereditary Leukoencephalopathy and Palmoplantar Keratoderma:A New Disorder with Increased Skin Collagen Content
Neurol 45:331-337, Lossos,A.,et al, 1995

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
Neurol 45:2266-2271, Schwankhaus,J.D.,et al, 1995

Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
Arch Neurol 51:757-766, Schwankhaus,J.D.,et al, 1994

Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994

Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992

MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992

Nystagmus of Pelizaeus-Merzbacher Disease
Arch Neurol 48:87-91, Trobe,J.D.,et al, 1991

Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
Neurol 41:1382-1384, Verdru,P.,et al, 1991

Use of CT, MRI, & Localized 1H MR Spectroscopy in Canavan's Disease:A Case Report
Ann Neurol 30:106-110, Marks,H.G.,et al, 1991

Adrenomyeloneuropathy Presenting as Addison's Disease in Childhood
NEJM 322:13-16, 54-551990., Sadeghi-Nejad,A.&Senior,B., 1990

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

MRI in Cockayne Syndrome Type 1
Neuroradiology 31:276-277, Boltshauser,E.,et al, 1989

Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy
Arch Neurol 45:1004-1008, Schwankhaus,J.D.,et al, 1988

MR Imaging of Pelizaeus-Merzbacher Disease
J Comput Assist Tomogr 11:591-593, Penner,M.W.,et al, 1987

Magnetic Resonance Imaging in Pelizaeus-Merzbacher Disease
Neuroradiology 29:403-405, Journel,H.,et al, 1987

Metachromatic Leukodystrophy Manifesting as a Schizophrenic Disorder:Computed Tomographic Correlation
Ann Neurol 18:94-95, Finelli,P.F., 1985

Hereditary Adult-Onset Leukodystrophy Simulating Chronic Progressive Multiple Sclerosis
NEJM 311:948-953, Eldridge,R.,et al, 1984

The Adrenoleukomyeloneuropathy Complex:Expression in Four Generations
Neurol 31:151-156, O'Neill,B.P.,et al, 1981

Perinatal Neuropathy as an Early Manifestation of Krabbe's Disease
Arch Neurol 37:446-447, Lieberman,J.S.,et al, 1980

Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970



Showing articles 0 to 42 of 42