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Hasan O Akman

Showing results (11-20 of 31) with videos related to

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Archives of Neurology|January 16, 2008
Juvenile Alpers diseaseEsko Wiltshire, Guido Davidzon, Salvatore DiMauro, et al.
JCI Insight|September 25, 2025
CDK12 regulates cellular metabolism to promote glioblastoma growthJeong-Yeon Mun, Chang Shu, Qiuqiang Gao, et al.
Archives of Neurology|July 12, 2012
Congenital megaconial myopathy due to a novel defect in the choline kinase Beta genePurificacion Gutiérrez Ríos, Arun A Kalra, Jon D Wilson, et al.
JAMA Neurology|November 20, 2013
Branching enzyme deficiency: expanding the clinical spectrumCarmen Paradas, Hasan O Akman, Carolina Ionete, et al.
EMBO Molecular Medicine|June 28, 2014
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiencyCaterina Garone, Beatriz Garcia-Diaz, Valentina Emmanuele, et al.
Journal of the Neurological Sciences|November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body diseaseSégolène Billot, Dominique Hervé, Hasan O Akman, et al.
Nucleic Acids Research|July 17, 2025
Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cellsRia Thomas, Emily Miyoshi, Hasan O Akman, et al.
Pediatric Research|August 2, 2007
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinaseHasan O Akman, James N Sampayo, Fiona A Ross, et al.
Ebiomedicine|August 7, 2019
Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiencyCarlos Lopez-Gomez, Henly Hewan, Carlos Sierra, et al.
Human Molecular Genetics|May 10, 2008
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenanceHasan O Akman, Beatriz Dorado, Luis C López, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Archives of Neurology|January 16, 2008
Juvenile Alpers diseaseEsko Wiltshire, Guido Davidzon, Salvatore DiMauro, et al.
JCI Insight|September 25, 2025
CDK12 regulates cellular metabolism to promote glioblastoma growthJeong-Yeon Mun, Chang Shu, Qiuqiang Gao, et al.
Archives of Neurology|July 12, 2012
Congenital megaconial myopathy due to a novel defect in the choline kinase Beta genePurificacion Gutiérrez Ríos, Arun A Kalra, Jon D Wilson, et al.
JAMA Neurology|November 20, 2013
Branching enzyme deficiency: expanding the clinical spectrumCarmen Paradas, Hasan O Akman, Carolina Ionete, et al.
EMBO Molecular Medicine|June 28, 2014
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiencyCaterina Garone, Beatriz Garcia-Diaz, Valentina Emmanuele, et al.
Journal of the Neurological Sciences|November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body diseaseSégolène Billot, Dominique Hervé, Hasan O Akman, et al.
Nucleic Acids Research|July 17, 2025
Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cellsRia Thomas, Emily Miyoshi, Hasan O Akman, et al.
Pediatric Research|August 2, 2007
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinaseHasan O Akman, James N Sampayo, Fiona A Ross, et al.
Ebiomedicine|August 7, 2019
Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiencyCarlos Lopez-Gomez, Henly Hewan, Carlos Sierra, et al.
Human Molecular Genetics|May 10, 2008
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenanceHasan O Akman, Beatriz Dorado, Luis C López, et al.
Pageof 4