Zobrazeno 1 - 10
of 102
pro vyhledávání: '"Lévy, A."'
Publikováno v:
Journal Français d'Ophtalmologie. 44:e165-e167
Autor:
Christian Kubisch, Robert Rubinsztajn, Arianne Llamos Paneque, Philippe Manivet, Catarina Pereira, Laila Selim, Nathalie Escande-Beillard, Abigail Loh, Peter Bauer, Catherine Bartoli, Song-Hua Lee, Morgane Le Mao, Hϋlya Kayserili, Coraline Airault, Nihal M. Al Menabawy, Lisa Martino, Yosef Gruenbaum, Guy Lenaers, Antoine Muchir, Agnès Rötig, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Sahar Elouej, Sheela Nampoothiri, Chayki Charar, Jean-François Deleuze, Karim Harhouri, Bruno Reversade, Davor Lessel, Geneviève Baujat
Publikováno v:
Nature communications, 11(1):4589. Nature Publishing Group
Nature Communications
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩
Nature Communications
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩
Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2), an outer mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06373a33d6f632cebef13745fddc34b8
https://pure.amc.nl/en/publications/loss-of-mtx2-causes-mandibuloacral-dysplasia-and-links-mitochondrial-dysfunction-to-altered-nuclear-morphology(60508de2-5a6c-49eb-9d5b-9742fc986ced).html
https://pure.amc.nl/en/publications/loss-of-mtx2-causes-mandibuloacral-dysplasia-and-links-mitochondrial-dysfunction-to-altered-nuclear-morphology(60508de2-5a6c-49eb-9d5b-9742fc986ced).html
Stem cell delivery to kidney via minimally invasive ultrasound-guided renal artery injection in mice
Autor:
May Zaw Thin, Olumide Ogunldade, Joan Comenge, P. Stephen Patrick, Daniel J. Stuckey, Anna L.David, Raphaël Lévy, Mark F. Lythgoe, Paul Beard, Tammy L. Kalber
Cell-based therapies are promising treatments for various kidney diseases. However, the major hurdle in initiating therapeutic responses is the inefficiency of injection routes to deliver cells to the kidney parenchyma. Systemic injection, such as in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5d68f7b2d663ca63f2c0c55093f67a9
https://doi.org/10.1101/609230
https://doi.org/10.1101/609230
Autor:
David Montani, Vincent Cottin, Marc Humbert, Martine Reynaud-Gaubert, Claire Dromer, Florence Coulet, Céline Sanfiorenzo, Mélanie Eyries, Florent Soubrier, Barbara Girerd, Ari Chaouat, Marilyne Lévy, Grégoire Prévot, Romain Trésorier, Karine Nguyen, Damien Bonnet, Ali Houeijeh, Arnaud Bourdin, Sophie Nadaud
Publikováno v:
European Respiratory Journal
European Respiratory Journal, European Respiratory Society, 2019, 53, pp.1801371. ⟨10.1183/13993003.01371-2018⟩
European Respiratory Journal, 2019, 53, pp.1801371. ⟨10.1183/13993003.01371-2018⟩
European Respiratory Journal, European Respiratory Society, 2019, 53, pp.1801371. ⟨10.1183/13993003.01371-2018⟩
European Respiratory Journal, 2019, 53, pp.1801371. ⟨10.1183/13993003.01371-2018⟩
International audience; Background Heritable forms of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis (PVOD/PCH) diverge by lung histopathological lesions, clinical and para-clinical pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a89c51d2a25685a7296beb1d703d5b6
https://hal.archives-ouvertes.fr/hal-01964973
https://hal.archives-ouvertes.fr/hal-01964973
Autor:
Sonia Blibech, Lilia Kraoua, Sonia Abdelhak, Laurent Argiro, R. M’rad, Heather C. Etchevers, Hager Jaouadi, Amel Ben Chehida, Nicolas Lévy, Rym Benkhalifa, Neji Tebib, Nadia Kasdallah, Valérie Delague, Stéphane Zaffran
Publikováno v:
Genetics Research
Genetics Research, Cambridge University Press (CUP), 2019, 101, pp.e6. ⟨10.1017/S0016672319000041⟩
Genetics Research, Cambridge University Press (CUP), 2019, 101, pp.e6. ⟨10.1017/S0016672319000041⟩
Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple congenital anomalies, which are frequently accompanied by h
Autor:
Antoine Muchir, Song-Hua Lee, Morgane Le Mao, Agnès Rötig, Arianne Llamos Paneque, Lisa Martino, Yosef Gruenbaum, Sheela Nampoothiri, Philippe Manivet, Nathalie Escande-Beillard, Coraline Airault, Chayki Charar, Robert Rubinsztajn, Christian Kubisch, Abigail Loh, Guy Lenaers, Jean-François Deleuze, Nihal M. Al Menabawy, Laila Selim, Hϋlya Kayserili, Annachiara De Sandre-Giovannoli, Peter Bauer, Catherine Bartoli, Sahar Elouej, Catarina Pereira, Nicolas Lévy, Karim Harhouri, Bruno Reversade, Davor Lessel, Geneviève Baujat
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
Nature Communications
Nature Communications
Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2), an outer mitoch
Autor:
Valérie Rigau, Arnaud de la Fouchardière, Manuela Delage, François Labrousse, Véronique Haddad, Gabrielle Goldman-Lévy, Bertrand Muckensturm, Valéry Attignon, Guido Bens, Daniel Pissaloux, Claire Bléchet
Publikováno v:
Brain Pathology. 26:547-550
Autor:
Chloé Di Meglio, Brigitte Chabrol, Mathieu Milh, Caroline Ovaert, Christophe Boulay, Nicolas Lévy, Nathalie Bonello-Palot
Publikováno v:
Brain and Development
Brain and Development, Elsevier, 2016, 38 (5), pp.498-506. ⟨10.1016/j.braindev.2015.11.006⟩
Brain and Development, 2016, 38 (5), pp.498-506. ⟨10.1016/j.braindev.2015.11.006⟩
Brain and Development, Elsevier, 2016, 38 (5), pp.498-506. ⟨10.1016/j.braindev.2015.11.006⟩
Brain and Development, 2016, 38 (5), pp.498-506. ⟨10.1016/j.braindev.2015.11.006⟩
International audience; Introduction: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot Marie Tooth disease type 2 (CMT2) with early onset. This gene is involved
Autor:
Shahriar Nafissi, Nicolas Lévy, J. Andoni Urtizberea, Shahram Attarian, Farzad Fatehi, Véronique Blanck-Labelle, Mohamad Baker Dbouk, Martin Krahn
Publikováno v:
Journal of the Neurological Sciences. 359:256-259
Background Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM). We des
Autor:
Lilliane Laroche, Eve Maubec, Jérémie Delaleu, Vanessa Szablewski, A. Lévy, Olivier Dereure, François Rodrigues
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 15, p adv00226 (2020)
is missing (Short communication)