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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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Computed Tomography in Cerebrotendinous Xanthomatosis
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Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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A 6-Year-Old Girl with Progressive Toe Walking
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Spinal Muscular Atrophy
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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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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Huntington Disease: Clinical Features and Diagnosis
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Diagnosis and New Treatments in Muscular Dystrophies
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Recessive Ataxia With Ocular Apraxia
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SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
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X-Linked Pure Familial Spastic Paraparesis
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Cerebral Involvement in McLeod Syndrome
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Fucosidosis Revisited:A Review of 77 Patients
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Acute Intermittent Porphyria
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Adrenoleukodystrophy
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
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Adult-Onset Spinocerebellar Syndrome with Idiopathic Vitamin E Deficiency
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