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Mitochondrial DNA Polymerase-y and Human Disease
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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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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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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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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Neurofibromatosis Type 2
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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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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
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Alzheimer Disease
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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Hereditary Recurrent Focal Neuropathies, Clinical and Molecular Features
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Indications and Value of Nerve Biopsy
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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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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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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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Clinical Genetics in Neurological Disease
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Inherited Primary Peripheral Neuropathies
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Wilson Disease
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
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Molecular Genetics of Amyloid Neuropathy in Europe
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