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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Duchenne Muscular Dystrophy
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Spinal Xanthomatosis
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Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
Lancet 396:990, Kronlage, C.,et al, 2020
"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
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Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
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Wilson Disease
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SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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A 27-Year Old Man with Rapidly Progressive Coma
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Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
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Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Alexander Disease, Ventricular Garlands and Abnormalities of the Medulla and Spinal Cord
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Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
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Glycogen-Storage Disease Type II
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Hereditary Spastic Paraparesis: A Review of New Developments
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