Neuropathology

Ahmed Yousef, John L. Robinson, David J. Irwin, Matthew D. Byrne, Linda K. Kwong, Edward B. Lee, Yan Xu, Sharon X. Xie, Lior Rennert, EunRan Suh, Vivianna M. Van Deerlin, Murray Grossman, Virginia M.-Y. Lee and John Q. Trojanowski September 7, 2017

Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is associated with the accumulation of pathological neuronal and glial intracytoplasmic inclusions as well as accompanying neuron loss. We ex…

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J. Hordeaux, L. Dubreil, C. Robveille, J. Deniaud, Q. Pascal, B. Dequéant, J. Pailloux, L. Lagalice, M. Ledevin, C. Babarit, P. Costiou, F. Jamme, M. Fusellier, Y. Mallem, C. Ciron, C. Huchet… September 6, 2017

Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement t…

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Sébastien A. Gauthier, Rocío Pérez-González, Ajay Sharma, Fang-Ke Huang, Melissa J. Alldred, Monika Pawlik, Gurjinder Kaur, Stephen D. Ginsberg, Thomas A. Neubert and Efrat Levy September 2, 2017

A dysfunctional endosomal pathway and abnormally enlarged early endosomes in neurons are an early characteristic of Down syndrome (DS) and Alzheimer’s disease (AD). We have hypothesized that endosomal material…

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