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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Myotonic Dystrophy
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Wilson Disease
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Primary Brain Tumours in Adults
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Pediatric Leigh Syndrome
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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Intracranial Neoplasms and Paraneoplastic Disorders
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Spinal Muscular Atrophy A Timely Review
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
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Diagnosis and New Treatment in Muscle Channelopathies
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Neurofibromatosis Type 2
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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Whipples Disease
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Fragile X Premutation With Atypical Symptoms at Onset
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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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Mitochondrial DNA Polymerase-y and Human Disease
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Unusual Variants of Alexander's Disease
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Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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Myotonic Dystrophy Type 2
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Alzheimer's Disease and Parkinson's Disease
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von Hippel-Lindau Disease
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The Hereditary Spastic Paraplegias
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Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
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