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A Young Man With Subacute Onset of Spastic Paraparesis
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A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Bilateral Temporal Pole Involvement in Adult-Onset X-Linked Adrenoleukodystrophy
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Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
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Cognitive and Brain Magnetic Resonance Imaging Findings in Adrenomyeloneuropathy
Ann Neurol 40:675-678, Edwin,D.,et al, 1996
Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
A Diagnostic Index of Active Demyelination:Myelin Basic Protein in Cerebrospinal Fluid
Ann Neurol 8:25-31, Cohen,S.R.,et al, 1980
Leukoencephalopathy in Oculocraniosomatic Neuromuscular Disease With Ragged-Red Fibers
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Myelinoclastic Diffuse & Transitional Sclerosis
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Pes Cavus and Neuropathy
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A Rare Case of Metachromatic Leukodystrophy with Multiple Bilateral Cranial Nerve Enhancement
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Neuroimaging and Clinical Features in Type II (late-onset) Alexander Disease
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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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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Unilateral White Matter Involvement in Krabbe Disease
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Patient with Unilateral White Matter Involvement Does Not Have Krabbe Disease
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Leukodystrophies: Classification, Diagnosis, and Treatment
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Aicardi-Gouti�res Syndrome
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Adult-Onset Vanishing White Matter Leukoencephalopathy Presenting as Psychosis
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CT and MR Imaging of Neuroaxonal Leukodystrophy Presenting as Early-Onset Frontal Dementia
AJNR 27:1037-1039, Mascalchi,M.,et al, 2006
Unusual Variants of Alexander's Disease
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Adrenoleukodystrophy
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Diffusion-Weighted MR Imaging in Leukodystrophies
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Diffusion-Weighted Imaging Findings in Juvenile Metachromatic Leukodystrophy
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Toxic Leukoencephalopathy
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
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Clinicopath Conf,Acute Hemorrhagic Leukoencephalitis,Case 1-1999
NEJM 340:127-135, , 1999
A New Metabolite Contributing to N-Acetyl Signal in 1H MRS of the Brain in Salla Disease
Neurol 52:1668-1672, Varho,T.,et al, 1999
Optic Nerve Enlargement in Krabbe's Disease
AJNR 20:1228-1231, Jones,B.V.,et al, 1999
Chronic Progressive Leukoencephalopathy in Adult Celiac Disease
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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