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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
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Phenylketonuria Presenting in Adulthood as Progressive Spastic Paraparesis With Dementia
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Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
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Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
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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
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Neurological Involvement in Wegener's Granulomatosis:An Analysis of 324 Consecutive Pts at the Mayo Clin
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Recurrent Encephalopathy and Seizures in a US Native with HTLV-I-Associated Myelopathy/Tropical Spastic Paraparesis
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Chronic Progressive Spinobulbar Spasticity, A Rare Form of Primary Lateral Sclerosis
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Atypical Alzheimer's Disease with Spastic Paresis & Ataxia
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Use of Adrenal Biopsy in Diagnosing Adreno-leukomyeloneuropathy
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CNS Lesions in Cystinuria
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Progressive Spastic Paraparesis & Adrenal Insufficiency
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Neurocutaneous Disease
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