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Dimah Saade

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

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HGG Advances|March 24, 2022
Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial diseaseKyle Thompson, Lucas Bianchi, Francesca Rastelli, et al.
Biorxiv : the Preprint Server for Biology|January 3, 2024
PIEZO2-dependent rapid pain system in humans and miceOtmane Bouchatta, Marek Brodzki, Houria Manouze, et al.
Annals of Clinical and Translational Neurology|February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variantsRiley M McCarty, Dimah Saade, Pinki Munot, et al.
The New England Journal of Medicine|March 20, 2024
Intrathecal Gene Therapy for Giant Axonal NeuropathyDiana X Bharucha-Goebel, Joshua J Todd, Dimah Saade, et al.
Nature Communications|February 17, 2019
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathyMaría Cristina Estañ, Elisa Fernández-Núñez, Maha S Zaki, et al.
American Journal of Human Genetics|May 11, 2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyJoel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, et al.
Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor betaVéronique Caron, Nicolas Chassaing, Nicola Ragge, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Pageof 4

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

Sort By:
Pageof 4
HGG Advances|March 24, 2022
Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial diseaseKyle Thompson, Lucas Bianchi, Francesca Rastelli, et al.
Biorxiv : the Preprint Server for Biology|January 3, 2024
PIEZO2-dependent rapid pain system in humans and miceOtmane Bouchatta, Marek Brodzki, Houria Manouze, et al.
Annals of Clinical and Translational Neurology|February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variantsRiley M McCarty, Dimah Saade, Pinki Munot, et al.
The New England Journal of Medicine|March 20, 2024
Intrathecal Gene Therapy for Giant Axonal NeuropathyDiana X Bharucha-Goebel, Joshua J Todd, Dimah Saade, et al.
Nature Communications|February 17, 2019
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathyMaría Cristina Estañ, Elisa Fernández-Núñez, Maha S Zaki, et al.
American Journal of Human Genetics|May 11, 2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyJoel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, et al.
Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor betaVéronique Caron, Nicolas Chassaing, Nicola Ragge, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Pageof 4