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Hasan O Akman

Showing results (21-30 of 31) with videos related to

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Human Molecular Genetics|November 26, 2008
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient miceLuis C López, Hasan O Akman, Angeles García-Cazorla, et al.
Human Molecular Genetics|October 3, 2014
Fhl1 W122S causes loss of protein function and late-onset mild myopathyValentina Emmanuele, Akatsuki Kubota, Beatriz Garcia-Diaz, et al.
Neuromuscular Disorders : NMD|May 18, 2010
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 geneHasan O Akman, Guido Davidzon, Kurenai Tanji, et al.
Neuromuscular Disorders : NMD|March 17, 2004
Fatal infantile neuromuscular presentation of glycogen storage disease type IVStacey K H Tay, Hasan O Akman, Wendy K Chung, et al.
Nature|October 8, 2011
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophyMariko Taniguchi-Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa, et al.
Annals of Neurology|June 27, 2013
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Johanna Nilsson, Benedikt Schoser, Pascal Laforet, et al.
JCI Insight|March 14, 2024
OGDH and Bcl-xL loss causes synthetic lethality in glioblastomaTrang Tt Nguyen, Consuelo Torrini, Enyuan Shang, et al.
Blood|December 25, 2004
Circulating endothelial progenitor cells in multiple myeloma: implications and significanceHong Zhang, Varsha Vakil, Marc Braunstein, et al.
American Journal of Human Genetics|October 2, 2012
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutationBeatriz Garcia-Diaz, Mario H Barros, Simone Sanna-Cherchi, et al.
Human Molecular Genetics|June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Human Molecular Genetics|November 26, 2008
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient miceLuis C López, Hasan O Akman, Angeles García-Cazorla, et al.
Human Molecular Genetics|October 3, 2014
Fhl1 W122S causes loss of protein function and late-onset mild myopathyValentina Emmanuele, Akatsuki Kubota, Beatriz Garcia-Diaz, et al.
Neuromuscular Disorders : NMD|May 18, 2010
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 geneHasan O Akman, Guido Davidzon, Kurenai Tanji, et al.
Neuromuscular Disorders : NMD|March 17, 2004
Fatal infantile neuromuscular presentation of glycogen storage disease type IVStacey K H Tay, Hasan O Akman, Wendy K Chung, et al.
Nature|October 8, 2011
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophyMariko Taniguchi-Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa, et al.
Annals of Neurology|June 27, 2013
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Johanna Nilsson, Benedikt Schoser, Pascal Laforet, et al.
JCI Insight|March 14, 2024
OGDH and Bcl-xL loss causes synthetic lethality in glioblastomaTrang Tt Nguyen, Consuelo Torrini, Enyuan Shang, et al.
Blood|December 25, 2004
Circulating endothelial progenitor cells in multiple myeloma: implications and significanceHong Zhang, Varsha Vakil, Marc Braunstein, et al.
American Journal of Human Genetics|October 2, 2012
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutationBeatriz Garcia-Diaz, Mario H Barros, Simone Sanna-Cherchi, et al.
Human Molecular Genetics|June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
Pageof 4