Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

Autor: Sambuughin N; Consortium for Health and Military Performance, Uniformed Services University, Bethesda, MD, 20814, USA. nyamkhishig.sambuughin.ctr@usuhs.edu., Goldfarb LG; National Institute of Neurological Disorders and Stroke, National Institute of Health, Bethesda, MD, 20892, USA. GoldfarbL@ninds.nih.gov., Sivtseva TM; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. sivtceva@list.ru., Davydova TK; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. davtk@rambler.ru., Vladimirtsev VA; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. sevelot@mail.ru., Osakovskiy VL; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. iz_labgene@mail.ru., Danilova AP; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. danilova61@list.ru., Nikitina RS; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. nikitina_raisa@mail.ru., Ylakhova AN; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. anesthesya@mail.ru., Diachkovskaya MP; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. margarita.dyachkovskaya@mail.ru., Sundborger AC; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Fishers Lane, Room 4S26, Bethesda, MD, 20892, USA. anna.sundborger@nih.gov., Renwick NM; Department of Pathology and Molecular Medicine, Queen's University, Kingston General Hospital, Kingston, ON, K7L 3N6, Canada. neil.renwick@queensu.ca., Platonov FA; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. platonovy@mail.ru., Hinshaw JE; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Fishers Lane, Room 4S26, Bethesda, MD, 20892, USA. jennyh@helix.nih.gov., Toro C; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. toroc@mail.nih.gov.

Publikováno v: BMC neurology [BMC Neurol] 2015 Oct 30; Vol. 15, pp. 223. Date of Electronic Publication: 2015 Oct 30.