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: