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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Sturge-Weber Syndrome
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Amyotrophic Lateral Sclerosis
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Diagnosis and New Treatments in Muscular Dystrophies
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Prader-Willi and Angelman Syndromes
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Neurofibromatosis Type I in Children
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Genetic Linkage in Neurologic Diseases
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