Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
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Niemann-Pick Type C Disease
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The Spectrum of Fragile X Disorders
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Niemann-Pick Disease Type C
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Neurodegeneration with Brain Iron Accumulation
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Congenital Asymmetric Crying Facies Syndrome, A Case Report
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A Child with Delayed Motor Milestones and Ptosis
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Huntington Disease: Clinical Features and Diagnosis
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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The Limbic-Girdle Muscular Dystrophies
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Dopa-Responsive Dystonia Revisited
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Huntingtons Disease
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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The Tuberous Sclerosis Complex
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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