Posted in the category:

Neurogenetics

Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis

Posted on February 23, 2015

Erin E. Baschal, Cambria I. Wethey, Kandice Swindle, Robin M. Baschal, et al: 2015 G3: Genes, Genomes, Genetics; 5(2) pp167-174 Read More

Posted in: Neurogenetics, Publications Faculty:

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

Posted on February 23, 2015

Appenzeller, S. , Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P. et al; 2014 American Journal of Human Genetics, 95(4) pp360-370 Read More

Posted in: Neurogenetics, Publications Faculty:

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2

Posted on February 23, 2015

Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, Boglarka Bansagi, Magdalena Zimon, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, and others; The American Journal of Human Genetics, Vol. 95, Issue 5, p590–601 Published online: October 30, 2014 Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Publications Faculty:

Timing and nature of in-house postoperative events following uncomplicated elective endovascular aneurysm treatment

Posted on February 23, 2015

Eric J. Arias, M.D., Bhuvic Patel, B.S., DeWitte T. Cross III, M.D., Christopher J. Moran, M.D., Ralph G. Dacey Jr., M.D., Gregory J. Zipfel, M.D., and Colin P. Derdeyn, M.D.; Journal of Neurosurgery Nov 2014 / Vol. 121 / No. 5, Pages 1063-1070 Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Neurovascular Injury & Repair, Publications Faculty: ,

Impact of 1p/19q codeletion and histology on outcomes of Anaplastic gliomas treated with radiation therapy and temozolomide

Posted on February 23, 2015

Christina K. Speirs, Joseph R. Simpson, Clifford G. Robinson, Todd A. DeWees, David D. Tran, Gerry Linette, Michael R. Chicoine, Ralph G. Dacey, et al; 2015, International Journal of Radiation Oncology Biology Physics, 91(2) pp268-276 Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Neurovascular Injury & Repair, Publications Faculty: , ,