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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Bilateral Hearing Loss and Constricted Visual Fields
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More Than a Little Unsteady
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
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Genetics of Cluster Headache Takes a Leap
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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