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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Aromatic L-Amino Acid Decarboxylase Deficiency
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Mitochondrial DNA and 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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Zika Virus Associated with Microcephaly
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Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
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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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Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
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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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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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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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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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Practice Parameter: Evaluation of the Child with Global Developmental Delay
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
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CSF Evaluation in Primary CNS Lymphoma Patients by PCR of the CDR III IgH Genes
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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Molecular Basis of the Neurodegenerative Disorders
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Hereditary Hemorrhagic Telangiectasia
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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