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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Neuroimaging Changes in Menkes Disease, Part 1
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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The Autosomal Recessive Cerebellar Ataxias
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
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X-Linked Pure Familial Spastic Paraparesis
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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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 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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Melas Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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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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A 35-Year-Old Woman with Personality Change and Gait Impairment
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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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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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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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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Amyotrophic Lateral Sclerosis
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