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Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy

Autor: Cifuentes-Diaz, Carmen, Frugier, Tony, Tiziano, Francesco D., Lacène, Emmanuelle, Roblot, Natacha, Joshi, Vandana, Moreau, Marie Helene, Melki, Judith

Publikováno v: The Journal of Cell Biology, 2001 Mar 01. 152(5), 1107-1114.

Externí odkaz: https://www.jstor.org/stable/1620369

The Goto-Kakizaki rat is a spontaneous prototypical rodent model of polycystic ovary syndrome

Autor: Bourgneuf, Camille, Bailbé, Danielle, Lamazière, Antonin, Dupont, Charlotte, Moldes, Marthe, Farabos, Dominique, Roblot, Natacha, Gauthier, Camille, Mathieu d’Argent, Emmanuelle, Cohen-Tannoudji, Joelle, Monniaux, Danielle, Fève, Bruno, Movassat, Jamileh, di Clemente, Nathalie, Racine, Chrystèle

Publikováno v: Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.1-17. ⟨10.1038/s41467-021-21308-y⟩
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Nature Communications, 2021, 12 (1), pp.1-17. ⟨10.1038/s41467-021-21308-y⟩

Polycystic ovary syndrome (PCOS) is characterized by an oligo-anovulation, hyperandrogenism and polycystic ovarian morphology combined with major metabolic disturbances. However, despite the high prevalence and the human and economic consequences of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::dfbe5508612c5c2816487f939f18d098
https://hal.sorbonne-universite.fr/hal-03147161/document

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Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice: Microtubule dynamics and spastin mutant mice

Autor: Fassier, Coralie, Couturier-Tarrade, Anne, Peris, Leticia, Courageot, Sabrina, Mailly, Philippe, Dalard, Cécile, Delga, Stéphanie, Roblot, Natacha, Lefèvre, Julien, Job, Didier, Hazan, Jamilé, Curmi, Patrick, Melki, Judith

Publikováno v: Disease Models & Mechanisms
Disease Models & Mechanisms, 2013, 6 (1), pp.72-83. ⟨10.1242/dmm.008946⟩

International audience; Mutations in SPG4, encoding the microtubule-severing protein spastin, are responsible for the most frequent form of hereditary spastic paraplegia (HSP), a heterogeneous group of genetic diseases characterized by degeneration o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1398::f57d2661bc5673dc68c675995f71aab5
https://www.hal.inserm.fr/inserm-00739394