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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Neuroimaging Changes in Menkes Disease, Part 1
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Huntingtons Disease
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Glycogen-Storage Disease Type II
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Recessive Ataxia With Ocular Apraxia
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Mucolipidosis Type IV; Characteristic MRI Findings
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Niemann-Pick Disease Type C from Bench to Bedside
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Causal Heterogeneity in Isolated Lissencephaly
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Fucosidosis Revisited:A Review of 77 Patients
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Anderson-Fabry Disease
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Retinitis Pigmentosa
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Azorean Disease of the Nervous System
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Chronic Hexosaminidase A & B Deficiency
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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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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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The Spectrum of Fragile X Disorders
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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 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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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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