Search Results - "CHAN, Elayne M"

Live cell imaging distinguishes bona fide human iPS cells from partially reprogrammed cells by Daley, George Q, Schlaeger, Thorsten M, Chan, Elayne M, Ratanasirintrawoot, Sutheera, Park, In-Hyun, Manos, Philip D, Loh, Yuin-Han, Huo, Hongguang, Miller, Justine D, Hartung, Odelya, Rho, Junsung, Ince, Tan A

“…Somatic cells can be reprogrammed into induced pluripotent stem (iPS) cells by enforced expression of transcription factors. Using serial live imaging of human…”
Get full text

Early-onset Lafora body disease by TURNBULL, Julie, GIRARD, Jean-Marie, TYAGI, Atul, YAN LIU, PENCEA, Nela, XIAOCHU ZHAO, SCHERER, Stephen W, ACKERLEY, Cameron A, MINASSIAN, Berge A, LOHI, Hannes, CHAN, Elayne M, PEIXIANG WANG, TIBERIA, Erica, OMER, Salah, AHMED, Mushtaq, BENNETT, Christopher, CHAKRABARTY, Aruna

“…The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6…”
Get full text

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy by Lohi, Hannes, Ianzano, Leonarda, Zhao, Xiao-Chu, Chan, Elayne M., Turnbull, Julie, Scherer, Stephen W., Ackerley, Cameron A., Minassian, Berge A.

“…Lafora progressive myoclonus epilepsy, caused by defective laforin or malin, insidiously present in normal teenagers with cognitive decline, followed by…”
Get full text

Mutations in NHLRC1 cause progressive myoclonus epilepsy by Minassian, Berge A, Scherer, Stephen W, Chan, Elayne M, Young, Edwin J, Ianzano, Leonarda, Munteanu, Iulia, Zhao, Xiaochu, Christopoulos, Constantine C, Avanzini, Giuliano, Elia, Maurizio, Ackerley, Cameron A, Jovic, Nebojsa J, Bohlega, Saeed, Andermann, Eva, Rouleau, Guy A, Delgado-Escueta, Antonio V

“…Lafora progressive myoclonus epilepsy is characterized by pathognomonic endoplasmic reticulum (ER)-associated polyglucosan accumulations. We previously…”
Get full text

Expanded repeat in canine epilepsy by Lohi, H, Young, E.J, Fitzmaurice, S.N, Rusbridge, C, Chan, E.M, Vervoort, M, Turnbull, J, Zhao, X.C, Ianzano, L, Paterson, A.D

“…Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and evidence for the existence of repeat-expansion disease outside humans…”
Get full text

Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes by Ianzano, Leonarda, Zhang, Junjun, Chan, Elayne M., Zhao, Xiao-Chu, Lohi, Hannes, Scherer, Stephen W., Minassian, Berge A.

“…Progressive Myoclonus Epilepsy (PME) of the Lafora type is an autosomal recessive disease, which presents in teenage years with myoclonia and generalized…”
Get full text

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy by Chan, Elayne M., Ackerley, Cameron A., Lohi, Hannes, Ianzano, Leonarda, Cortez, Miguel A., Shannon, Patrick, Scherer, Stephen W., Minassian, Berge A.

“…Lafora disease (LD) is a fatal and the most common form of adolescent-onset progressive epilepsy. Fulminant endoplasmic reticulum (ER)-associated depositions…”
Get full text

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene by Aznarez, Isabel, Chan, Elayne M., Zielenski, Julian, Blencowe, Benjamin J., Tsui, Lap-Chee

“…Sequences in exons can play an important role in constitutive and regulated pre-mRNA splicing. Since exonic splicing regulatory sequences are generally poorly…”
Get full text

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy by Ianzano, Leonarda, Young, Edwin J., Zhao, Xiao C., Chan, Elayne M., Rodriguez, M. T., Torrado, Maria V., Scherer, Stephen W., Minassian, Berge A.

“…Lafora disease is the most severe teenage‐onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of…”
Get full text

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B by Chan, Elayne M, Andrade, Danielle M, Franceschetti, Silvana, Minassian, Berge

Get more information

On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies by Lohi, Hannes, Chan, Elayne M, Scherer, Stephen W, Minassian, Berge A

Get more information

Enhanced plating efficiency of trypsin-adapted human embryonic stem cells is reversible and independent of trisomy 12/17 by Chan, Elayne M, Yates, Frank, Boyer, Leah F, Schlaeger, Thorsten M, Daley, George Q

“…Human embryonic stem cells (hESCs) can be cultured abundantly and indefinitely, but are subject to accumulations of chromosomal aberrations. To preserve their…”
Get more information