The NANOS Annual Meeting Neuro-Ophthalmology Collection: Presentations from the annual meeting of the North American Neuro-Ophthalmology Society (NANOS), a professional organization of more than 600 members who are fully trained ophthalmologists or neurologists. Contains records from the first meeting in 1975 to the present.
NOVEL: https://novel.utah.edu/
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Filters: Collection: ehsl_novel_nam
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Mitofusin 2 (MFN2) mutations cause mitochondrial DNA instability in Charcot-Marie-Tooth disease | Yu-Wai-Man, Patrick; Sitarz, Kamil; Stewart, Joanna; Pyle, Angela; Reilly, Mary; Horvath, Rita; Chinnery, Patrick | Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies and it affects at least 1 in 2,500 individuals. A specific autosomal-dominant axonal CMT subtype, hereditary motor and sensory neuropathy type VI (HMSN-VI, OMIM 601152), is caused by mutations in mitofusi... | 20120214_nanos_sciplatform_03 |
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