Resultados da busca - Zambonin, Jessica
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1
Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes por Ziabreva, Iryna, Campbell, Graham, Rist, Julia, Zambonin, Jessica, Rorbach, Joanna, Wydro, Mateusz M, Lassmann, Hans, Franklin, Robin J M, Mahad, Don
Publicado em 2010Texto -
2
Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome por Lax, Nichola Z., Campbell, Graham R., Reeve, Amy K., Ohno, Nobuhiko, Zambonin, Jessica, Blakely, Emma L., Taylor, Robert W., Bonilla, Eduardo, Tanji, Kurenai, DiMauro, Salvatore, Jaros, Evelyn, Lassmann, Hans, Turnbull, Doug M., Mahad, Don J.
Publicado em 2012Texto -
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Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis por Zambonin, Jessica L., Zhao, Chao, Ohno, Nobuhiko, Campbell, Graham R., Engeham, Sarah, Ziabreva, Iryna, Schwarz, Nadine, Lee, Sok Ee, Frischer, Josa M., Turnbull, Doug M., Trapp, Bruce D., Lassmann, Hans, Franklin, Robin J. M., Mahad, Don J.
Publicado em 2011Texto -
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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia por Zambonin, Jessica L., Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Dudding-Byth, Tracy, Boycott, Kym M.
Publicado em 2017Texto -
5
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature por Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Publicado em 2020Texto -
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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations por Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’Keefe, Raymond T., Newman, William G.
Publicado em 2021Texto