Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Delphine Sapaly"'
Autor:
Elias Abi Akar, Laure Weill, Mirella El Khoury, Cédric Caradeuc, Gildas Bertho, Suzan Boutary, Cynthia Bezier, Zoé Clerc, Delphine Sapaly, Sabrina Bendris, Flore Cheguillaume, Nicolas Giraud, Assaad A. Eid, Frédéric Charbonnier, Olivier Biondi
Publikováno v:
Molecular Medicine, Vol 30, Iss 1, Pp 1-16 (2024)
Abstract Background Type 2 diabetes mellitus (T2DM) is a chronic metabolic disease that commonly results from a high-calorie diet and sedentary lifestyle, leading to insulin resistance and glucose homeostasis perturbation. Physical activity is recomm
Externí odkaz:
https://doaj.org/article/08581acfbdf54fc68bb47baec3268e46
Autor:
Mirella El Khoury, Olivier Biondi, Gaelle Bruneteau, Delphine Sapaly, Sabrina Bendris, Cynthia Bezier, Zoé Clerc, Elias Abi Akar, Laure Weill, Assaad A. Eid, Frédéric Charbonnier
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
IntroductionSpinal muscular atrophy (SMA) is a fatal neurodegenerative disorder, characterized by motor neuron (MN) degeneration and severe muscular atrophy and caused by Survival of Motor Neuron (SMN) depletion. Therapies aimed at increasing SMN in
Externí odkaz:
https://doaj.org/article/b187f5fb340440b7ab9572622915223a
Autor:
Perrine Delers, Delphine Sapaly, Badih Salman, Stephan De Waard, Michel De Waard, Suzie Lefebvre
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-18 (2022)
Abstract SMN protein deficiency causes motoneuron disease spinal muscular atrophy (SMA). SMN-based therapies improve patient motor symptoms to variable degrees. An early hallmark of SMA is the perturbation of the neuromuscular junction (NMJ), a synap
Externí odkaz:
https://doaj.org/article/c2b81653e55542179ee659fef4c36a91
Autor:
Delphine Sapaly, Perrine Delers, Jennifer Coridon, Badih Salman, Franck Letourneur, Florent Dumont, Suzie Lefebvre
Publikováno v:
Frontiers in Molecular Biosciences, Vol 7 (2020)
The motor neurodegenerative disease spinal muscular atrophy (SMA) is caused by alterations of the survival motor neuron 1 (SMN1) gene involved in RNA metabolism. Although the disease mechanisms are not completely elucidated, SMN protein deficiency le
Externí odkaz:
https://doaj.org/article/c4043ead41ba4398881b30204cdd5002
Autor:
Léo Houdebine, Domenico D’Amico, Jean Bastin, Farah Chali, Céline Desseille, Valentin Rumeau, Judy Soukkari, Carole Oudot, Thaïs Rouquet, Bruno Bariohay, Julien Roux, Delphine Sapaly, Laure Weill, Philippe Lopes, Fatima Djouadi, Cynthia Bezier, Frédéric Charbonnier, Olivier Biondi
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Spinal Muscular Atrophy (SMA), an autosomal recessive neurodegenerative disease characterized by the loss of spinal-cord motor-neurons, is caused by mutations on Survival-of-Motor Neuron (SMN)-1 gene. The expression of SMN2, a SMN1 gene copy, partial
Externí odkaz:
https://doaj.org/article/0b7e68d9487c4a4d90e01f37457cf285
Autor:
Domenico D'Amico, Olivier Biondi, Camille Januel, Cynthia Bezier, Delphine Sapaly, Zoé Clerc, Mirella El Khoury, Venkat Krishnan Sundaram, Léo Houdebine, Thibaut Josse, Bruno Della Gaspera, Cécile Martinat, Charbel Massaad, Laure Weill, Frédéric Charbonnier
Publikováno v:
Neuropathology and applied neurobiologyREFERENCES. 48(5)
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by survival of motor neuron (SMN) deficiency that induces motor neuron (MN) degeneration and severe muscular atrophy. Gene therapies that increase SMN have proven their efficacy but not
Autor:
Domenico D’Amico, Laure Weill, Valentin Rumeau, Thaïs Rouquet, Bruno Bariohay, Farah Chali, Cynthia Bezier, Céline Desseille, Julien Roux, Philippe Lopes, Léo Houdebine, Carole Oudot, Frédéric Charbonnier, Delphine Sapaly, Jean Bastin, Olivier Biondi, Judy Soukkari, Fatima Djouadi
Publikováno v:
Frontiers in Physiology
Frontiers in Physiology, Frontiers, 2019, 10, pp.1258. ⟨10.3389/fphys.2019.01258⟩
Frontiers in Physiology, Vol 10 (2019)
Frontiers in Physiology, 2019, 10, pp.1258. ⟨10.3389/fphys.2019.01258⟩
Frontiers in Physiology, Frontiers, 2019, 10, pp.1258. ⟨10.3389/fphys.2019.01258⟩
Frontiers in Physiology, Vol 10 (2019)
Frontiers in Physiology, 2019, 10, pp.1258. ⟨10.3389/fphys.2019.01258⟩
International audience; Spinal Muscular Atrophy (SMA), an autosomal recessive neurodegenerative disease characterized by the loss of spinal-cord motor-neurons, is caused by mutations on Survival-of-Motor Neuron (SMN)-1 gene. The expression of SMN2, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f1322e110ebc3740027f4fa4c141044
https://www.hal.inserm.fr/inserm-02893893/document
https://www.hal.inserm.fr/inserm-02893893/document
Autor:
François Girardet, Léo Houdebine, Jean-François Bureau, Gwendoline Quérol, Olivier Biondi, Suzie Lefebvre, Kevinee Khoobarry, Delphine Sapaly, Anne-Sophie Armand, Christophe Chanoine, Frédéric Charbonnier, Philippe Burlet, Matthieu Dos Santos, Perrine Delers
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.2075. ⟨10.1038/s41598-018-20219-1⟩
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
Scientific Reports, 2018, 8 (1), pp.2075. ⟨10.1038/s41598-018-20219-1⟩
Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.2075. ⟨10.1038/s41598-018-20219-1⟩
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
Scientific Reports, 2018, 8 (1), pp.2075. ⟨10.1038/s41598-018-20219-1⟩
International audience; The hereditary neurodegenerative disorder spinal muscular atrophy (SMA) is characterized by the loss of spinal cord motor neurons and skeletal muscle atrophy. SMA is caused by mutations of the survival motor neuron (SMN) gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2edbe65306c86fca81ae82b1e5743a3d
https://hal-pasteur.archives-ouvertes.fr/pasteur-02090360/file/s41598-018-20219-1.pdf
https://hal-pasteur.archives-ouvertes.fr/pasteur-02090360/file/s41598-018-20219-1.pdf