Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

The neuromuscular junction (NMJ) is a specialized synapse with a complex molecular architecture that provides for reliable transmission between the nerve terminal and muscle fiber. Using linkage analysis and whole-exome sequencing of DNA samples from subjects with distal hereditary motor neuropathy...

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Hlavní autoři: Barwick, Katy E.S., Wright, Jane, Al-Turki, Saeed, McEntagart, Meriel M., Nair, Ajith, Chioza, Barry, Al-Memar, Ali, Modarres, Hamid, Reilly, Mary M., Dick, Katherine J., Ruggiero, Alicia M., Blakely, Randy D., Hurles, Matt E., Crosby, Andrew H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516609/
https://ncbi.nlm.nih.gov/pubmed/23141292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.09.019
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