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Sean Froese

Showing results (51-60 of 63) with videos related to

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Chemistry & Biology|December 22, 2015
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-MannosylationMoniek Riemersma, D Sean Froese, Walinka van Tol, et al.
Clinical Epigenetics|April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Human Molecular Genetics|June 27, 2023
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduriaMarie Lucienne, Raffaele Gerlini, Birgit Rathkolb, et al.
Nature Metabolism|January 30, 2023
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiencyPatrick Forny, Ximena Bonilla, David Lamparter, 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.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 27, 2019
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduriaMarie Lucienne, Juan Antonio Aguilar-Pimentel, Oana V Amarie, et al.
Nature Communications|February 4, 2018
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Structure (London, England : 1993)|June 25, 2013
Crystal structures of malonyl-coenzyme A decarboxylase provide insights into its catalytic mechanism and disease-causing mutationsD Sean Froese, Farhad Forouhar, Timothy H Tran, et al.
Nature Communications|January 6, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
BMJ Open|December 26, 2024
Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data streamRebeca Mozun, Fabiën N Belle, Andrea Agostini, et al.
Pageof 7

Showing results (51-60 of 63) with videos related to

Sort By:
Pageof 7
Chemistry & Biology|December 22, 2015
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-MannosylationMoniek Riemersma, D Sean Froese, Walinka van Tol, et al.
Clinical Epigenetics|April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Human Molecular Genetics|June 27, 2023
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduriaMarie Lucienne, Raffaele Gerlini, Birgit Rathkolb, et al.
Nature Metabolism|January 30, 2023
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiencyPatrick Forny, Ximena Bonilla, David Lamparter, 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.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 27, 2019
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduriaMarie Lucienne, Juan Antonio Aguilar-Pimentel, Oana V Amarie, et al.
Nature Communications|February 4, 2018
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Structure (London, England : 1993)|June 25, 2013
Crystal structures of malonyl-coenzyme A decarboxylase provide insights into its catalytic mechanism and disease-causing mutationsD Sean Froese, Farhad Forouhar, Timothy H Tran, et al.
Nature Communications|January 6, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
BMJ Open|December 26, 2024
Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data streamRebeca Mozun, Fabiën N Belle, Andrea Agostini, et al.
Pageof 7