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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Neuroimaging Features of Biotinidase Deficiency
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Neurological Management of Von Hippel-Lindau Disease
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Tuberous Sclerosis
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The Tuberous Sclerosis Complex
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Creutzfeldt-Jakob Disease in a Young Woman
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Wilson Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Cavernous Maliformations of the Central Nervous System
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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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Genetics of Cluster Headache Takes a Leap
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Parkin Disease
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Dopa-Responsive Dystonia Revisited
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An unusual cause of stroke and hypoxia
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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A Multidisciplinary Study of Patients with Early-Onset PD with and Without Parkin Mutations
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