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Bio
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Genomics
Genetics & Heredity
Neurosciences
Scientific summary
Through positional cloning strategy, J Melki’s team identified SMN, the gene responsible for childhood spinal muscular atrophy (SMA, Lefebvre et al. 1995, 1997). J Melki’s team generated and characterized transgenic mouse lines expressing the Cre recombinase in skeletal muscle, neurons or liver in order to direct a gene mutation in these tissues using the Cre-LoxP system. Using this approach, they created mouse models of SMA and spastic paraplegia (Frugier et al. 2000, Cifuentes-Diaz et al. 2001, Nicole et al. 2003, Vitte et al. 2007, Tarrade et al. 2006).
J Melki’s team performed a whole genome association study in 229 french amyotrophic lateral sclerosis patients, one of the most devastating adult motor neuron diseases in collaboration with Pr. V. Meininger and Dr M. Lathrop using SNP microarrays (Landers, Melki, et al. 2009).
Research Interests
Papers共 146 篇Author StatisticsCo-AuthorSimilar Experts
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Yline Capri,Theresa Kwon,Olivia Boyer, Lucas Bourmance, Noe Testa,Véronique Baudouin, Ronan Bonnefoy,Anne Couderc,Chakib Meziane, Elisabeth Tournier-Lasserve,Laurence Heidet,Judith Melki
Yline Capri,Thérèsa Kwon,Olivia Boyer,Lucas Bourmance, Noé Testa,Véronique Baudouin, R. Bonnefoy, Anne-Laure Couderc,Chakib Meziane, Elisabeth Tournier‐Lasserve,Laurence Heidet,Judith Melki
Journal of Medical Geneticsno. 10 (2023): 993-998
Clinical geneticsno. 5 (2023): 587-592
S. Hilliquin,O. Fogel, M. Tissier, C. Cherifi, I. Karim,J. Melki, O. Robert, B. Brigitte, P. Dieudé, L. Rogge, E. Bianchi, M. Do Cruzeiro,
Revue du Rhumatisme (2023): A77
Axelle Gillet de Thorey,Augustin Ozanne,Judith Melki, Gregoire Dumery,Alexandra Benachi,Alexandre J. Vivanti
Mathilde Weber,Dana Jaber,Ferechte Encha-Razavi, Emmanuel Julien, Julie Grevoul-Fesquet,Julie Steffann,Judith Melki,Jelena Martinovic
Neuromuscular disorders : NMDno. 5 (2022): 445-449
SSRN Electronic Journal (2022)
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