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Irini Manoli

Showing results (61-70 of 72) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2021
Correction to: 1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaIrini Manoli, Justin R Sysol, Lingli Li, et al.
Blood|May 9, 2019
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whitesJeffrey I Cohen, Irini Manoli, Kennichi Dowdell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2021
1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Journal of Inherited Metabolic Disease|June 3, 2026
First Revision of the Guidelines for the Diagnosis and Management of Remethylation DisordersGiorgia Olivieri, Andrea Bordugo, Birute Burnyte, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
JCI Insight|January 25, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylationIrini Manoli, Justin R Sysol, PamelaSara E Head, et al.
JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Nature Communications|July 7, 2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndromeSilvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2021
Correction to: 1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaIrini Manoli, Justin R Sysol, Lingli Li, et al.
Blood|May 9, 2019
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whitesJeffrey I Cohen, Irini Manoli, Kennichi Dowdell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2021
1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Journal of Inherited Metabolic Disease|June 3, 2026
First Revision of the Guidelines for the Diagnosis and Management of Remethylation DisordersGiorgia Olivieri, Andrea Bordugo, Birute Burnyte, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
JCI Insight|January 25, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylationIrini Manoli, Justin R Sysol, PamelaSara E Head, et al.
JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Nature Communications|July 7, 2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndromeSilvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, et al.
Pageof 8