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Aurora Pujol

Showing results (91-100 of 135) with videos related to

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Molecular Therapy. Methods & Clinical Development|November 11, 2024
An <i>in vitro</i> and <i>in vivo</i> efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPsVidyullatha Vasireddy, Casey A Maguire, David W Anderson, et al.
The Journal of Clinical Investigation|March 23, 2023
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrityLaura Planas-Serra, Nathalie Launay, Leire Goicoechea, et al.
Neurogenetics|January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorderInga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
Cell Metabolism|May 13, 2014
Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscleEija Pirinen, Carles Cantó, Young Suk Jo, et al.
Clinical Pharmacology and Therapeutics|July 25, 2017
Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 DiabetesDaniel M Rotroff, Sonja S Pijut, Skylar W Marvel, et al.
The Journal of Molecular Diagnostics : JMD|May 15, 2022
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare DiseasesGemma Bullich, Leslie Matalonga, Montserrat Pujadas, et al.
Clinical Genetics|April 27, 2020
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndromeSara C Reichert, Rachel Li, Scott A Turner, et al.
European Journal of Neurology|August 14, 2023
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxiaPablo Iruzubieta, David Pellerin, Alberto Bergareche, et al.
Eclinicalmedicine|June 30, 2022
Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective studyVeronica Davalos, Carlos A García-Prieto, Gerardo Ferrer, et al.
Ebiomedicine|September 8, 2023
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophyIsabelle Weinhofer, Paulus Rommer, Andreas Gleiss, et al.
Pageof 14

Showing results (91-100 of 135) with videos related to

Sort By:
Pageof 14
Molecular Therapy. Methods & Clinical Development|November 11, 2024
An <i>in vitro</i> and <i>in vivo</i> efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPsVidyullatha Vasireddy, Casey A Maguire, David W Anderson, et al.
The Journal of Clinical Investigation|March 23, 2023
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrityLaura Planas-Serra, Nathalie Launay, Leire Goicoechea, et al.
Neurogenetics|January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorderInga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
Cell Metabolism|May 13, 2014
Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscleEija Pirinen, Carles Cantó, Young Suk Jo, et al.
Clinical Pharmacology and Therapeutics|July 25, 2017
Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 DiabetesDaniel M Rotroff, Sonja S Pijut, Skylar W Marvel, et al.
The Journal of Molecular Diagnostics : JMD|May 15, 2022
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare DiseasesGemma Bullich, Leslie Matalonga, Montserrat Pujadas, et al.
Clinical Genetics|April 27, 2020
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndromeSara C Reichert, Rachel Li, Scott A Turner, et al.
European Journal of Neurology|August 14, 2023
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxiaPablo Iruzubieta, David Pellerin, Alberto Bergareche, et al.
Eclinicalmedicine|June 30, 2022
Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective studyVeronica Davalos, Carlos A García-Prieto, Gerardo Ferrer, et al.
Ebiomedicine|September 8, 2023
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophyIsabelle Weinhofer, Paulus Rommer, Andreas Gleiss, et al.
Pageof 14