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Deficiency of Brain Synaptic Dystrophin in Human Duchenne Muscular Dystrophy
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Magnetic Resonance Imaging and Clinical Correlates of Intellectual Impairment in Myotonic Dystrophy
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Mental Deficiency Associated with Muscular Dystrophy
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The Spectrum of Fragile X Disorders
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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A 54-year-old woman with Dementia, Myoclonus, and Ataxia
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Amyotrophic Lateral Sclerosis
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Sarcoidosis Limbic Encephalitis
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Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
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Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
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Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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A 23-Year-Old Man With Seizures and Visual Deficit
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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Age-Related Memory Decline
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Mild Cognitive Impairment, Clinical Characterization and Outcome
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Prevalence and Severity of Cognitive Impairment with and without Dementia in an Elderly Population
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Leukoencephalopathy Associated with Cobalamin Deficiency
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Neurofibromatosis Type I in Children
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Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
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Two Cases of Van Buchem's Disease
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Familial Tapetorentinal Degeneration & Epilepsy
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Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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