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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Spinal Muscular Atrophy
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Recurrent Cerebral Ischemia During Pregnancies
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A 52-year-old Woman with Progressive Proximal Weakness
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The Muscular Dystrophies
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Hereditary Spastic Paraplegia:Advances in Genetic Research
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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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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Myotonic Dystrophy
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Dystrophinopathy in Isolated Cases of Myopathy in Females
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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