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A Young Man With Subacute Onset of Spastic Paraparesis
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Pes Cavus and Neuropathy
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Clinicopath Conf, Infantile Krabbe Disease
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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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
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Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
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Diffuse Leukodystrophy with a Large-Scale Mitochondrial DNA Deletion
Lancet 343:1397-1398, Nakai,A.,et al, 1994
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
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Alexander's Disease, A Disease of Astrocytes
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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Prenatal Genetic Diagnosis
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Neuro CPC of MGH
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