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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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Niemann-Pick Type C Disease
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A 26-Year-OldWoman with Headache and Eosinophilia
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Ribbon-Like Cortical Calcifications in Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type
Neurol 106:e214464, Chen,Y.,et al, 2025
A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 2025
Clinicopathological Conference, Chronic Candida Albicans Meningitis
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A 13-Year-Old Boy with Subacute-Onset Spastic Gait
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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