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Neuromuscular Disorders : NMD
|
March 20, 2025
The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative review
Marion Onnée, Edoardo Malfatti
International Journal of Molecular Sciences
|
October 13, 2021
Structure-Based Understanding of ABCA3 Variants
Marion 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 diseases
Mounia Lakli, Marion Onnée, Thomas Carrez, et al.
Neuropathology and Applied Neurobiology
|
March 13, 2026
ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods
Alexandru 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 Instability
Marion 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 patient
Elena Faedo, Mary Marcela Araujo Chumacero, Sara Missaglia, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Neuromuscular Disorders : NMD
|
March 20, 2025
The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative review
Marion Onnée, Edoardo Malfatti
International Journal of Molecular Sciences
|
October 13, 2021
Structure-Based Understanding of ABCA3 Variants
Marion 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 diseases
Mounia Lakli, Marion Onnée, Thomas Carrez, et al.
Neuropathology and Applied Neurobiology
|
March 13, 2026
ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods
Alexandru 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 Instability
Marion 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 patient
Elena Faedo, Mary Marcela Araujo Chumacero, Sara Missaglia, et al.
Page
of 1