Adrenoleukodystrophy
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Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
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Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
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Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy
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Hereditary Adult-Onset Leukodystrophy Simulating Chronic Progressive Multiple Sclerosis
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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A Diagnostic Index of Active Demyelination:Myelin Basic Protein in Cerebrospinal Fluid
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Computerized Cranial Tomography in Cerebral Diseases of White Matter
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Myelinoclastic Diffuse & Transitional Sclerosis
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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
A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Leukodystrophies: Classification, Diagnosis, and Treatment
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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
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
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
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Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
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MRI in Cockayne Syndrome Type 1
Neuroradiology 31:276-277, Boltshauser,E.,et al, 1989
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
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
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979
Prenatal Genetic Diagnosis
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Neuro CPC of MGH
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