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Marion Onnée

Showing results (1-10 of 6) with videos related to

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Neuromuscular Disorders : NMD|March 20, 2025
The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative reviewMarion Onnée, Edoardo Malfatti
International Journal of Molecular Sciences|October 13, 2021
Structure-Based Understanding of ABCA3 VariantsMarion Onnée, Pascale Fanen, Isabelle Callebaut, et al.
Biochemical Pharmacology|August 7, 2024
ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseasesMounia Lakli, Marion Onnée, Thomas Carrez, et al.
Neuropathology and Applied Neurobiology|March 13, 2026
ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and RodsAlexandru Caramizaru, Marion Onnée, Sergey Nikitin, et al.
Biomedicines|February 24, 2024
The <i>FLNC</i> Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein InstabilityMarion Onnée, Audrey Bénézit, Sultan Bastu, et al.
Frontiers in Genetics|June 10, 2026
Case Report: a novel <i>PNPLA2</i> homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patientElena Faedo, Mary Marcela Araujo Chumacero, Sara Missaglia, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Neuromuscular Disorders : NMD|March 20, 2025
The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative reviewMarion Onnée, Edoardo Malfatti
International Journal of Molecular Sciences|October 13, 2021
Structure-Based Understanding of ABCA3 VariantsMarion Onnée, Pascale Fanen, Isabelle Callebaut, et al.
Biochemical Pharmacology|August 7, 2024
ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseasesMounia Lakli, Marion Onnée, Thomas Carrez, et al.
Neuropathology and Applied Neurobiology|March 13, 2026
ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and RodsAlexandru Caramizaru, Marion Onnée, Sergey Nikitin, et al.
Biomedicines|February 24, 2024
The <i>FLNC</i> Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein InstabilityMarion Onnée, Audrey Bénézit, Sultan Bastu, et al.
Frontiers in Genetics|June 10, 2026
Case Report: a novel <i>PNPLA2</i> homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patientElena Faedo, Mary Marcela Araujo Chumacero, Sara Missaglia, et al.
Pageof 1