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Michel Koenig

Showing results (31-40 of 126) with videos related to

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Scientific Reports|January 4, 2017
Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscleAnne-Laure Bougé, Eva Murauer, Emmanuelle Beyne, et al.
Archives of Neurology|July 16, 2008
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 familiesMathieu Anheim, Marie-Celine Fleury, Jerome Franques, et al.
Cellular and Molecular Life Sciences : CMLS|March 21, 2024
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiationDylan Da Cunha, Julie Miro, Charles Van Goethem, et al.
Clinical Chemistry and Laboratory Medicine|October 3, 2014
Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal controlClaire Guissart, Vanessa Debant, Marie Desgeorges, et al.
The Journal of Pathology|October 23, 2020
miRNA repertoires of cystic fibrosis ex vivo models highlight miR-181a and miR-101 that regulate WISP1 expressionAlexandra Pommier, Jessica Varilh, Solenne Bleuse, et al.
Plos One|July 25, 2009
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxiaNadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, et al.
Journal of Neurology|May 28, 2016
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxiaMathilde Renaud, Claire Guissart, Martial Mallaret, et al.
Cerebellum (London, England)|July 26, 2003
Iron metabolism in mice with partial frataxin deficiencyManuela M Santos, Carlos J Miranda, Joanne E Levy, et al.
Neuromuscular Disorders : NMD|March 24, 2009
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2HMireille Cossée, Clotilde Lagier-Tourenne, Claire Seguela, et al.
Human Molecular Genetics|December 24, 2004
Friedreich ataxia: the oxidative stress paradoxHervé Seznec, Delphine Simon, Cécile Bouton, et al.
Pageof 13

Showing results (31-40 of 126) with videos related to

Sort By:
Pageof 13
Scientific Reports|January 4, 2017
Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscleAnne-Laure Bougé, Eva Murauer, Emmanuelle Beyne, et al.
Archives of Neurology|July 16, 2008
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 familiesMathieu Anheim, Marie-Celine Fleury, Jerome Franques, et al.
Cellular and Molecular Life Sciences : CMLS|March 21, 2024
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiationDylan Da Cunha, Julie Miro, Charles Van Goethem, et al.
Clinical Chemistry and Laboratory Medicine|October 3, 2014
Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal controlClaire Guissart, Vanessa Debant, Marie Desgeorges, et al.
The Journal of Pathology|October 23, 2020
miRNA repertoires of cystic fibrosis ex vivo models highlight miR-181a and miR-101 that regulate WISP1 expressionAlexandra Pommier, Jessica Varilh, Solenne Bleuse, et al.
Plos One|July 25, 2009
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxiaNadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, et al.
Journal of Neurology|May 28, 2016
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxiaMathilde Renaud, Claire Guissart, Martial Mallaret, et al.
Cerebellum (London, England)|July 26, 2003
Iron metabolism in mice with partial frataxin deficiencyManuela M Santos, Carlos J Miranda, Joanne E Levy, et al.
Neuromuscular Disorders : NMD|March 24, 2009
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2HMireille Cossée, Clotilde Lagier-Tourenne, Claire Seguela, et al.
Human Molecular Genetics|December 24, 2004
Friedreich ataxia: the oxidative stress paradoxHervé Seznec, Delphine Simon, Cécile Bouton, et al.
Pageof 13