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Emanuele Buratti
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Francisco E. Baralle
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Erwin Pauws
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David E. Housman
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E Wang
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NL Fawzi
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Adrian M. Isaacs
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Philip Stanier
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Mark F. Lythgoe
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Yoichi Gondo
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Ryutaro Fukumura
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Linda Greensmith
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Elizabeth Fisher
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Abraham Acevedo‐Arozena
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Alexandre Bonnet
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Robert A. Sanford
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Audrey Riou
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Sophie Drapier
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Florence Le Jeune
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Marc Vérin
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·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1111/ene.13704
· OA: W4244182034
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1111/ene.13704
· OA: W4244182034
Homozygous LCDmut develop neurodegenerative phenotypes including a) decreased grip strength and b) muscle force, together with c) reduced number of surviving motor units and d) positive p62 inclusions in the spinal cord Conclusion: Mutation-induced gain of splicing function in TDP43 is sufficient to cause neurodegeneration and could constitute an early process in pathophysiology of ALS.
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