المؤلفون: Maria Grazia Biferi, Mathilde Cohen-Tannoudji, Andrea García-Silva, Olga Souto-Rodríguez, Irene Viéitez-González, Beatriz San-Millán-Tejado, Andrea Fernández-Carrera, Tania Pérez-Márquez, Susana Teijeira-Bautista, Soraya Barrera, Vanesa Domínguez, Thibaut Marais, África González-Fernández, Martine Barkats, Saida Ortolano

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 1-17 (2021)

مصطلحات موضوعية: Fabry disease, lysosomal storage disorders, adeno asociated virus-9, gene therapy, blood brain barrier, gene transfer, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050120302205Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/b2d13278a02c48deb45d598f9f6bd188Test

المؤلفون: Michela Lisjak, Alessia De Caneva, Thibaut Marais, Elena Barbon, Maria Grazia Biferi, Fabiola Porro, Adi Barzel, Lorena Zentilin, Mark A. Kay, Federico Mingozzi, Andrés F. Muro

المصدر: Frontiers in Genome Editing, Vol 4 (2022)

مصطلحات موضوعية: GeneRide, albumin gene targeting, mouse model, coagulation factor IX, tail clip test, CRISPR/SaCas9, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgeed.2022.785698/fullTest; https://doaj.org/toc/2673-3439Test

الوصول الحر: https://doaj.org/article/8b673b0e33fa4dbfbfb0304e87ef4951Test

المؤلفون: Marisa Cappella, Sahar Elouej, Maria Grazia Biferi

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: IPSCs, gene therapy, AAV, NMD, MND, ASOs, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2021.662837/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/7f215a715b974389baa4afbe92fffcc8Test

المؤلفون: Piera Smeriglio, Paul Langard, Giorgia Querin, Maria Grazia Biferi

المصدر: Journal of Personalized Medicine, Vol 10, Iss 3, p 75 (2020)

مصطلحات موضوعية: spinal muscular atrophy, adult patients, disease heterogeneity, Nusinersen, disease modifiers, functional outcomes, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2075-4426/10/3/75Test; https://doaj.org/toc/2075-4426Test

الوصول الحر: https://doaj.org/article/c8a989ed9b354fbc9f6ca507946bd8bfTest

المؤلفون: Marisa Cappella, Chiara Ciotti, Mathilde Cohen-Tannoudji, Maria Grazia Biferi

المصدر: International Journal of Molecular Sciences, Vol 20, Iss 18, p 4388 (2019)

مصطلحات موضوعية: Gene therapy, antisense oligonucleotides, RNA interference, lentiviral vectors, AAV, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/20/18/4388Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/cd3e729fa91947fc8edc3d7473606c53Test

المؤلفون: Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Science

العلاقة: https://doi.org/10.1038/s41467-022-30880-wTest; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/bccd1d42d05b472e924ee795b21fc179Test

الإتاحة: https://doi.org/10.1038/s41467-022-30880-wTest
https://doaj.org/article/bccd1d42d05b472e924ee795b21fc179Test

المؤلفون: Nicolas Vignier, Maria Chatzifrangkeskou, Luca Pinton, Hugo Wioland, Thibaut Marais, Mégane Lemaitre, Caroline Le Dour, Cécile Peccate, Déborah Cardoso, Alain Schmitt, Wei Wu, Maria-Grazia Biferi, Naïra Naouar, Coline Macquart, Maud Beuvin, Valérie Decostre, Gisèle Bonne, Guillaume Romet-Lemonne, Howard J. Worman, Francesco Saverio Tedesco, Antoine Jégou, Antoine Muchir

المصدر: Cell Reports, Vol 36, Iss 8, Pp 109601- (2021)

مصطلحات موضوعية: cofilin-1, ERK1/2 signaling, muscular dystrophy, skeletal muscle, sarcomeric organization, Biology (General), QH301-705.5

العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124721010391Test; https://doaj.org/toc/2211-1247Test; https://doaj.org/article/c556bebb8808453e8abeba29fd9a8cdbTest

الإتاحة: https://doi.org/10.1016/j.celrep.2021.109601Test
https://doaj.org/article/c556bebb8808453e8abeba29fd9a8cdbTest

المؤلفون: Inger Lauritzen, Anaïs Bécot, Alexandre Bourgeois, Raphaëlle Pardossi-Piquard, Maria-Grazia Biferi, Martine Barkats, Fréderic Checler

المصدر: Translational Neurodegeneration, Vol 8, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: Extracellular vesicles, C99, APP-CTFs, Homo- and hetero-oligomerization, Endosomes, Lysosomes, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://doi.org/10.1186/s40035-019-0176-6Test; https://doaj.org/toc/2047-9158Test; https://doaj.org/article/027cf11112fc4c188a93980afe965595Test

الإتاحة: https://doi.org/10.1186/s40035-019-0176-6Test
https://doaj.org/article/027cf11112fc4c188a93980afe965595Test

المؤلفون: Tyler G. Demarest, Maria Grazia Biferi

المصدر: Trends in molecular medicine. 28(9)

مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, Molecular Medicine, Humans, Genetic Therapy, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8883f53b3ff1bcc1782e7f11cbe122bTest
https://pubmed.ncbi.nlm.nih.gov/35909024Test

المؤلفون: Pierre-François Pradat, Giorgia Querin, Maria Grazia Biferi

المساهمون: Centre de référence des maladies rares neuromusculaires [CHU Pitié-Salpétriêre], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), I-Motion Adultes [CHU Pitié-Salpétriêre], Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Ulster, HAL-SU, Gestionnaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Imagerie Biomédicale [Paris] (LIB)

المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.25-37. ⟨10.3233/JND-210754⟩

مصطلحات موضوعية: medicine.medical_specialty, pre-symptomatic, DPRs, brain imaging, Neuroimaging, neurofilaments, ASO, Internal medicine, C9orf72, medicine, Animals, Humans, Gray Matter, clinical trials, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Amyotrophic Lateral Sclerosis, FTD, White Matter, Clinical trial, PET, Neurology, DTI, clinical markers, symptomatic, Neurology (clinical), Calcium Channels, ALS, antisense oligonucleotides, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Biomarkers, MRI

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fab992056255f14b2fdba6f6e15f44f8Test
https://pubmed.ncbi.nlm.nih.gov/34864683Test