Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Prader-Willi and Angelman Syndromes
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Wilson Disease
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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The Autosomal Recessive Cerebellar Ataxias
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Tuberous Sclerosis
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Whipples Disease
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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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The Tuberous Sclerosis Complex
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Mitochondrial DNA Polymerase-y and Human Disease
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Clinical and Genetic Aspects of Distal Myopathies
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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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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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Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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The Prevention of Neurogenetic Disease
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The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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CAG Repeat Size and Clinical Presentation in Huntington's Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
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Trinucleotide Repeat Expansion in Neurological Disease
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Myotonic Dystrophy
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Clinical Consequences of Isolating the Gene for Huntington's Disease
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Molecular Genetics in Neurology
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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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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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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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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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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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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Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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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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