Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Xiao Chu Zhao"'
Autor:
Yin Wang, Cameron Ackerley, Erica Tiberia, Alessandra Ruggieri, Peixiang Wang, Julie Turnbull, Tony Y. Wang, Johan Israelian, Berge A. Minassian, Xiao Chu Zhao, Nela Pencea, Yan Liu
Publikováno v:
Journal of Biological Chemistry. 287:25650-25659
The solubility of glycogen, essential to its metabolism, is a property of its shape, a sphere generated through extensive branching during synthesis. Lafora disease (LD) is a severe teenage-onset neurodegenerative epilepsy and results from multiorgan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e9feaf2385a1498489abddf50efb8f5
https://doi.org/10.1074/jbc.m111.331611
https://doi.org/10.1074/jbc.m111.331611
Autor:
Leonarda Ianzano, Elayne M. Chan, Berge A. Minassian, Cameron Ackerley, Stephen W. Scherer, Julie Turnbull, Xiao Chu Zhao, Hannes Lohi
Publikováno v:
Human Molecular Genetics. 14:2727-2736
Lafora progressive myoclonus epilepsy, caused by defective laforin or malin, insidiously present in normal teenagers with cognitive decline, followed by rapidly intractable epilepsy, dementia and death. Pathology reveals neurodegeneration with neurof
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302a5c28c12ccfcb13d54a72a3f3fd20
https://doi.org/10.1093/hmg/ddi306
https://doi.org/10.1093/hmg/ddi306
Autor:
Jean Marie Girard, Hannes Lohi, Julie Turnbull, Berge A. Minassian, Arman Draginov, Cátia M. Teixeira, Scellig S D Stone, Afra H. Wang, Paul W. Frankland, Christophe Blaszykowski, Xiao Chu Zhao, Cameron Ackerley, Peixiang Wang
Publikováno v:
Neurology. 79(1)
Neuronal distal axons have limited access to glucose, their myelin sheaths preventing direct interface with blood, and their axoplasms being at great distances from their cell bodies. Glycogen, the mammalian glucose store, is characterized by extreme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b187ac11eaf3d52c122df6a6ae520860
https://pubmed.ncbi.nlm.nih.gov/22622859
https://pubmed.ncbi.nlm.nih.gov/22622859
Autor:
Stephen W. Scherer, Leonarda Ianzano, Elayne M. Chan, Hannes Lohi, Xiao Chu Zhao, Junjun Zhang, Berge A. Minassian
Publikováno v:
Human mutation. 26(4)
Progressive Myoclonus Epilepsy (PME) of the Lafora type is an autosomal recessive disease, which presents in teenage years with myoclonia and generalized seizures leading to death within a decade of onset. It is characterized by pathognomonic inclusi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9affef9207bddc405c9b7b296b10a228
https://pubmed.ncbi.nlm.nih.gov/16134145
https://pubmed.ncbi.nlm.nih.gov/16134145
Autor:
Elayne M. Chan, G. Diane Shelton, Xiao Chu Zhao, Mike Vervoort, Andrew D. Paterson, Edwin J. Young, Susan N. Fitzmaurice, Berge A. Minassian, Nathan B. Sutter, Julie Turnbull, Elaine A. Ostrander, Clare Rusbridge, Catherine André, Leonarda Ianzano, Stephen W. Scherer, Cameron Ackerley, Hannes Lohi
Publikováno v:
Science (New York, N.Y.). 307(5706)
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. A canid-specific unstable dodecamer repeat in the Epm2b ( Nhlrc1 ) gene recurrently expands
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::790e8165e1e5eae6578355b16312847b
https://pubmed.ncbi.nlm.nih.gov/15637270
https://pubmed.ncbi.nlm.nih.gov/15637270
Autor:
Girard, Jean-Marie, Stone, Scellig S. D., Lohi, Hannes, Blaszykowski, Christophe, Teixeira, Catia, Turnbull, Julie, Wang, Afra, Draginov, Arman, Peixiang Wang, Xiao Chu Zhao, Ackerley, Cameron A., Frankland, Paul W., Minassian, Berge A.
Publikováno v:
Neurology; 7/3/2012, Vol. 79 Issue 1, p100-102, 3p
Autor:
Tiberia, Erica1, Turnbull, Julie1,2 jturnbull@sickkids.ca, Wang, Tony1, Ruggieri, Alessandra1, Xiao-Chu Zhao1, Pencea, Nela1,3, Israelian, Johan1, Yin Wang4, Ackerley, Cameron A.3, Peixiang Wang1, Yan Liu4, Minassian, Berge A.1,5,6 berge.minassian@sickkids.ca
Publikováno v:
Journal of Biological Chemistry. 7/20/2012, Vol. 287 Issue 30, p25650-25659. 10p.