Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 2 of 2 for “"C19orf12"”.
-
Functional and Pathophysiological-morphological Correlates of Neurodegenerative Diseases
… MPAN are summarized, and an association between C19orf12 mutation and visual impairment is confirmed. A phenotype of a well-documented case of MPAN is presented. Keywords: C19orf12 mutation; color discrimination; contrast sensitivity; huntingtin; Huntington's disease; iron accumulation; …
-
Testing roles of Hereditary Spastic Paraplegia (HSP) proteins in organization of axonal endoplasmic reticulum (ER) and ER-mitochondria contacts
… of ER-shaping proteins is other HSP genes. C19orf12 (SPG43) is an HSP gene; C19orf12 reportedly localise to ER and has a predicted intramembrane domain. It is therefore a candidate for helping to shape the axonal ER network. To investigate possible roles of C19orf12 in ER structure and …