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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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The Spectrum of Fragile X Disorders
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Genome Sequencing in the NICU and PICU is Here to Stay
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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Thyrotoxic Periodic Paralysis
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Amyotrophic Lateral Sclerosis
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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