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

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作者：
Nyamkhishig Sambuughin
Lev G. Goldfarb
Tatiana M. Sivtseva
Tatiana K. Davydova
Vsevolod A. Vladimirtsev
Vladimir L. Osakovskiy
Al’bina P. Danilova
Raisa S. Nikitina
Anastasia N. Ylakhova
Margarita P. Diachkovskaya
Anna C. Sundborger
Neil M. Renwick
Fyodor A. Platonov
Jenny E. Hinshaw
Camilo Toro
机构：
[1] Uniformed Services University,Consortium for Health and Military Performance
[2] National Institute of Health,National Institute of Neurological Disorders and Stroke
[3] M.K. Ammosov North-Eastern Federal University,Institute of Health
[4] National Institutes of Health,National Institute of Diabetes and Digestive and Kidney Diseases
[5] Queen’s University,Department of Pathology and Molecular Medicine
[6] Kingston General Hospital,National Human Genome Research Institute
[7] National Institutes of Health,undefined
来源：
BMC Neurology | / 15卷
关键词：
Paraplegia; HSP; Dynamin; Neuropathy; Exome sequencing; Endocytosis;
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