A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Ribbon-Like Sign in Convexity Subarachnoid Hemorrhage
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Infantile Osteopetrosis & Neuronal Storage Disease
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Epidemiology of Motor-Neuron Diseases
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Niemann-Pick Type C Disease
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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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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Somatic Mutations in Cerebral Cortical Malformations
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Huntingtons Disease
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Neuroimaging Findings in Human Prion 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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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
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Recessive Ataxia With Ocular Apraxia
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SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
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Niemann-Pick Disease Type C: Two Cases and an Update
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Ion Channel Diseases:Episodic Disorders of the Nervous System
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Inclusion Body Myositis in Twins
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Mucolipidosis Type IV; Characteristic MRI Findings
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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Multiple-System Atrophy is Genet Distinct from Ident Inherited Causes of Spinocerebellar Degen
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
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X-Linked Malformation of Neuronal Migration
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