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J Pediatr 127:511-517, Matalon,R.,et al, 1995
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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MR Neurography for the Diagnosis of Hypertrophic Neuropathies
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Huntington Disease: Clinical Features and Diagnosis
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Stroke 45:e56-e58, Wright, J.,et al, 2014
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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