Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.
Pérez-Brangulí F, Mishra HK, Prots I, Havlicek S, Kohl Z, Saul D, Rummel C, Dorca-Arevalo J, Regensburger M, Graef D, Sock E, Blasi J, Groemer TW, Schlötzer-Schrehardt U, Winkler J, Winner B.
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Hum Mol Genet. 2014 Sep 15;23(18):4859-74. doi: 10.1093/hmg/ddu200. Epub 2014 May 2.
Hum Mol Genet. 2014.
PMID: 24794856
Free PMC article.