المؤلفون: Camille Loret, Amandine Pauset, Pierre-Antoine Faye, Valérie Prouzet-Mauleon, Ioanna Pyromali, Angélique Nizou, Federica Miressi, Franck Sturtz, Frédéric Favreau, Béatrice Turcq, Anne-Sophie Lia

المصدر: Biomedicines, Vol 12, Iss 7, p 1550 (2024)

مصطلحات موضوعية: hiPSCs, CRISPR-Cas9, disease cellular model, Charcot–Marie–Tooth (CMT), SH3TC2, HEK293-T, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/7/1550; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/9f8357a02465470db1feada18e9ab430

المؤلفون: Nesrine Benslimane, Camille Loret, Pauline Chazelas, Frédéric Favreau, Pierre-Antoine Faye, Fabrice Lejeune, Anne-Sophie Lia

المصدر: Pharmaceuticals, Vol 17, Iss 3, p 314 (2024)

مصطلحات موضوعية: nonsense mutation, readthrough, premature termination codon (PTC), genetic disease, nonsense-mediated mRNA decay (NMD), translation, Medicine, Pharmacy and materia medica, RS1-441

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1424-8247/17/3/314; https://doaj.org/toc/1424-8247

URL الوصول: https://doaj.org/article/c9bb724cfe6e47b08f7976b929da6962

المؤلفون: Nesrine Benslimane, Federica Miressi, Camille Loret, Laurence Richard, Angélique Nizou, Ioanna Pyromali, Pierre-Antoine Faye, Frédéric Favreau, Fabrice Lejeune, Anne-Sophie Lia

المصدر: Pharmaceuticals, Vol 16, Iss 7, p 1034 (2023)

مصطلحات موضوعية: GDAP1, CMT disease, nonsense mutation, nonsense-mediated decay (NMD), readthrough molecules, premature termination codon (PTC), Medicine, Pharmacy and materia medica, RS1-441

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1424-8247/16/7/1034; https://doaj.org/toc/1424-8247

URL الوصول: https://doaj.org/article/4fcd4e5b984e4e5596c80ec1ced643e1

المؤلفون: Ioanna Pyromali, Alexandre Perani, Angélique Nizou, Nesrine Benslimane, Paco Derouault, Sylvie Bourthoumieu, Mélanie Fradin, Guilhem Sole, Fanny Duval, Constantin Gomes, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia

المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 4265-4272 (2021)

مصطلحات موضوعية: NGS, Structural variations, CovCopCan, Charcot-Marie-Tooth, KIF5A, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037021003275; https://doaj.org/toc/2001-0370

URL الوصول: https://doaj.org/article/7e358b27452f44e59045c62065768904

المؤلفون: Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia

المصدر: Biomedicines, Vol 11, Iss 6, p 1565 (2023)

مصطلحات موضوعية: hereditary sensory neuropathy, structural variation, ATL3, NGS, CovCopCan, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/11/6/1565; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/38396eaa0d3e49e9a51bb45d20ac9caa

المؤلفون: Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye

المصدر: BMC Medical Genomics, Vol 13, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: MADD, ETFA, Mild form, Hypoglycaemia, Compound heterozygous mutation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/f82f78f6f14a4d479ed7ed90ec0b8056

المؤلفون: Federica Miressi, Pierre-Antoine Faye, Ioanna Pyromali, Sylvie Bourthoumieux, Paco Derouault, Marie Husson, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia

المصدر: Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 2095-2099 (2020)

مصطلحات موضوعية: Structural Variants, Diagnosis, Charcot-Marie-Tooth, NGS, CovCopCan, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037020303536; https://doaj.org/toc/2001-0370

URL الوصول: https://doaj.org/article/3df217712c8f4bfbb077490f2f9795bf

المؤلفون: Laurent Magy, Pauline Chazelas, Laurence Richard, Nathalie Deschamps, Simon Frachet, Jean-Michel Vallat, Corinne Magdelaine, Frédéric Favreau, Flavien Bessaguet, Anne-Sophie Lia, Mathilde Duchesne

المصدر: Biomedicines, Vol 10, Iss 8, p 2046 (2022)

مصطلحات موضوعية: early diagnosis, CANVAS, sensory neuropathy, chronic cough, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/10/8/2046; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/7adb671fc7c64d91b1ecd08b8d3eec2e

المؤلفون: Thomas Kerforne, Frédéric Favreau, Tackwa Khalifeh, Souleymane Maiga, Geraldine Allain, Antoine Thierry, Manuel Dierick, Edouard Baulier, Clara Steichen, Thierry Hauet

المصدر: Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Oxidized LDL, Kidney transplantation, Vascular remodeling, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12967-018-1764-4; https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/729bef12b52a4f9db37e5bad83d48b47

المؤلفون: Pierre Antoine Faye, François Poumeaud, Federica Miressi, Anne Sophie Lia, Claire Demiot, Laurent Magy, Frédéric Favreau, Franck G. Sturtz

المصدر: Frontiers in Neuroscience, Vol 13 (2019)

مصطلحات موضوعية: calcitriol, peripheral nervous system, neuronal-cell differentiation, synergistic effects, myelin process, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnins.2019.00348/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/4c6b07e90e644217b2085fde59659b6d

المؤلفون: Federica Miressi, Nesrine Benslimane, Frédéric Favreau, Marion Rassat, Laurence Richard, Sylvie Bourthoumieu, Cécile Laroche, Laurent Magy, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia, Pierre-Antoine Faye

المصدر: Biomedicines, Vol 9, Iss 8, p 945 (2021)

مصطلحات موضوعية: CMT disease, GDAP1, hiPSCs, motor neurons, mitochondria, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/9/8/945; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/25bc4625e4974443b2ae63e5200e85dc

المؤلفون: Federica Miressi, Corinne Magdelaine, Pascal Cintas, Sylvie Bourthoumieux, Angélique Nizou, Paco Derouault, Frédéric Favreau, Franck Sturtz, Pierre-Antoine Faye, Anne-Sophie Lia

المصدر: Brain Sciences, Vol 10, Iss 12, p 986 (2020)

مصطلحات موضوعية: multilocus disease, Charcot–Marie–Tooth, diagnosis, CNV, NGS, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3425/10/12/986; https://doaj.org/toc/2076-3425

URL الوصول: https://doaj.org/article/a06c58a4f4064c2fb0bc6a575e38454e

المؤلفون: Sarah Mafi, Cécile Laroche-Raynaud, Pauline Chazelas, Anne-Sophie Lia, Paco Derouault, Franck Sturtz, Yasser Baaj, Rachel Froget, Marlène Rio, Jean-François Benoist, François Poumeaud, Frédéric Favreau, Pierre-Antoine Faye

المصدر: Brain Sciences, Vol 10, Iss 11, p 762 (2020)

مصطلحات موضوعية: cerebral folate deficiency, FOLR1 variant, neurodegenerative disorder, epilepsy, FRα protein crystallographic structure, pediatric, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3425/10/11/762; https://doaj.org/toc/2076-3425

URL الوصول: https://doaj.org/article/2fe1ad4b6fc94ff9900d767627665a25

المؤلفون: Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia

المصدر: Journal of Personalized Medicine; Volume 12; Issue 2; Pages: 212

مصطلحات موضوعية: Charcot–Marie–Tooth, structural variation, SH3TC2, CovCopCan, NGS

وصف الملف: application/pdf

Relation: Omics/Informatics; https://dx.doi.org/10.3390/jpm12020212

الاتاحة: https://doi.org/10.3390/jpm12020212

المؤلفون: Pauline Chazelas, Clara Steichen, Frédéric Favreau, Patrick Trouillas, Patrick Hannaert, Raphaël Thuillier, Sébastien Giraud, Thierry Hauet, Jérôme Guillard

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 5; Pages: 2366

مصطلحات موضوعية: oxidative stress, Reactive Oxygen Species (ROS), antioxidant factors, ischemia-reperfusion injury, animal models, organoids, molecular modeling models

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms22052366

الاتاحة: https://doi.org/10.3390/ijms22052366

المؤلفون: Pierre-Antoine Faye, Nicolas Vedrenne, Federica Miressi, Marion Rassat, Sergii Romanenko, Laurence Richard, Sylvie Bourthoumieu, Benoît Funalot, Franck Sturtz, Frederic Favreau, Anne-Sophie Lia

المصدر: Brain Sciences; Volume 10; Issue 7; Pages: 407

مصطلحات موضوعية: induced pluripotent stem cells, hiPSC, spinal motor neurons, cellular models, peripheral nervous system, Charcot-Marie-Tooth, CMT, peripheral neuropathy

وصف الملف: application/pdf

Relation: Molecular and Cellular Neuroscience; https://dx.doi.org/10.3390/brainsci10070407

الاتاحة: https://doi.org/10.3390/brainsci10070407

المؤلفون: Louise Alechinsky, Frederic Favreau, Petra Cechova, Sofiane Inal, Pierre-Antoine Faye, Cecile Ory, Raphaël Thuillier, Benoit Barrou, Patrick Trouillas, Jerome Guillard, Thierry Hauet

المصدر: Biomolecules; Volume 10; Issue 3; Pages: 439

مصطلحات موضوعية: warm ischemia, cold ischemia, tannic acid, renal function recovery, oxidative stress

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/biom10030439

الاتاحة: https://doi.org/10.3390/biom10030439

المؤلفون: Zeina Msheik, Tarek El Masri, Gautier MA Ndong-Ntoutoume, Laetitia Vignaud, Laurence Richard, Emilie Pinault, Pierre-Antoine Faye, Frédérique Bregier, Pierre Marquet, Frédéric Favreau, Jean-Michel Vallat, Vincent Sol, Franck Sturtz, Alexis Desmouliere, Mohamed El Massry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::243ce66051b3c4690a58b208b4ca5e79
https://doi.org/10.21203/rs.3.rs-2786317/v1

المؤلفون: Antoine Tardieu, Ludivine Dion, Vincent Lavoué, Pauline Chazelas, Pierre Marquet, Pascal Piver, Camille Sallée, Yves Aubard, Chantal Barin-Le Guellec, Frederic Favreau, Tristan Gauthier

المصدر: Journal of Clinical Medicine; Volume 8; Issue 6; Pages: 760

مصطلحات موضوعية: ischemia, uterus, transplantation, deceased donor

وصف الملف: application/pdf

Relation: Obstetrics & Gynecology; https://dx.doi.org/10.3390/jcm8060760

الاتاحة: https://doi.org/10.3390/jcm8060760

المؤلفون: David Soussi, Jérôme Danion, Edouard Baulier, Frédéric Favreau, Ysé Sauvageon, Valentin Bossard, Xavier Matillon, Frédéric Turpin, El Mustapha Belgsir, Raphaël Thuillier, Thierry Hauet

المصدر: International Journal of Molecular Sciences; Volume 20; Issue 9; Pages: 2268

مصطلحات موضوعية: ischemia reperfusion injury, transplantation, organ preservation, oxidative stress, resveratrol

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms20092268

الاتاحة: https://doi.org/10.3390/ijms20092268