Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Unusual Variants of Alexander's Disease
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Brainstem Chipmunk Sign: A Diagnostic Imaging Clue Across All Subtypes of Alexander Disease
AJNR 45:769-776, Armangue,T.,et al, 2024
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Neuroimaging and Clinical Features in Type II (late-onset) Alexander Disease
Neurol 82:49-56, Graff-Radford, J.,et al, 2014
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Patient with Unilateral White Matter Involvement Does Not Have Krabbe Disease
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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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Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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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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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992
MRI in Cockayne Syndrome Type 1
Neuroradiology 31:276-277, Boltshauser,E.,et al, 1989
Brainstem Auditory Evoked Responses in Leukodystrophies
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