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

المساهمون: CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Généthon, Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), 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), Cappella, Marisa

المصدر: Nature Communications
Nature Communications, 2022, 13 (1), pp.3278. ⟨10.1038/s41467-022-30880-w⟩

مصطلحات موضوعية: [SDV] Life Sciences [q-bio], Mice, Phenotype, Multidisciplinary, Maple Syrup Urine Disease, [SDV]Life Sciences [q-bio], Animals, General Physics and Astronomy, Genetic Therapy, General Chemistry, Amino Acids, Branched-Chain, General Biochemistry, Genetics and Molecular Biology, 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0aef083f4f2dd69766a18c9c114142fTest
https://doi.org/10.1038/s41467-022-30880-wTest

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

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::aebb1175d4ab6f54e8bc96e363c93c15Test

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

المساهمون: Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Instituto de Investigación Sanitaria Galicia Sur [Vigo, Spain], University of Vigo [ Pontevedra], Gestionnaire, HAL Sorbonne Université 5, Thérapie des maladies du muscle strié, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU), Centre de Recherche en Myologie

المصدر: Investigo. Repositorio Institucional de la Universidade de Vigo
Universidade de Vigo (UVigo)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy-Methods and Clinical Development
Molecular Therapy-Methods and Clinical Development, 2021, 20, pp.1-17. ⟨10.1016/j.omtm.2020.10.016⟩
Molecular Therapy-Methods and Clinical Development, Nature Publishing Group, 2021, 20, pp.1-17. ⟨10.1016/j.omtm.2020.10.016⟩
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss, Pp 1-17 (2021)

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, bone involvement, Genetic enhancement, Central nervous system, blood brain barrier, 2410.07 Genética Humana, Blood–brain barrier, lysosomal storage disorders, Viral vector, 03 medical and health sciences, chemistry.chemical_compound, 3201 Ciencias Clínicas, 0302 clinical medicine, adeno asociated virus-9, Genetics, medicine, metabolic disorders, Vector (molecular biology), lcsh:QH573-671, gene transfer, Molecular Biology, Fabry disease, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, X-linked diseases, biology, lcsh:Cytology, business.industry, Glycosphingolipid, 3201.03 Microbiología Clínica, medicine.disease, gene therapy, 3. Good health, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Fabry disease lysosomal storage disorders adeno asociated virus-9, chemistry, 030220 oncology & carcinogenesis, Immunology, biology.protein, Molecular Medicine, Original Article, Antibody, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2885db2614f355e811d45393c2dc42a5Test
https://linkinghub.elsevier.com/retrieve/pii/S2329050120302205Test

المؤلفون: Alves, Sandro, Marais, Thibaut, Maria-Grazia Biferi, Furling, Denis, Marinello, Martina, Hachimi, Khalid El, Cartier, Nathalie, Ruberg, Merle, Stevanin, Giovanni, Brice, Alexis, Barkats, Martine, Sittler, Annie

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::553561fe9c9e7b9758a54851400a68d6Test

المؤلفون: Alves, Sandro, Marais, Thibaut, Maria-Grazia Biferi, Furling, Denis, Marinello, Martina, Hachimi, Khalid El, Cartier, Nathalie, Ruberg, Merle, Stevanin, Giovanni, Brice, Alexis, Barkats, Martine, Sittler, Annie

مصطلحات موضوعية: nervous system

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7eee01e146e28439ca6c0cd1c21b3edTest

المؤلفون: Deborah Pajalunga, Maria Grazia Biferi, Gabriele De Luca, Marco Crescenzi, Anna Maria Salzano, Alessia Mazzola

المصدر: The Journal of Cell Biology

مصطلحات موضوعية: DNA Replication, Cellular differentiation, Muscle Fibers, Skeletal, Article, Mice, Cyclin-dependent kinase, Cyclins, Animals, Humans, Cyclin D3, Mitosis, Cells, Cultured, Cellular Senescence, Research Articles, Cell Proliferation, Cyclin-Dependent Kinase Inhibitor Proteins, biology, Cell growth, Cell Cycle, Cyclin-Dependent Kinase 4, Cell Differentiation, Cyclin-Dependent Kinase 6, Cell Biology, Cell cycle, Cell biology, biology.protein, RNA Interference, Cyclin-dependent kinase 6, Cell aging, Cyclin-dependent kinase inhibitor protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61f4b846cafc1bfa69f6dfee701cc94Test
https://doi.org/10.1083/jcb.200608109Test

المؤلفون: Alessia Mazzola, Marco Crescenzi, Maria Grazia Biferi, Luisa Minghetti, Flavia Michelini, Gianluca Bossi, Federica Censi, Giovanna Floridia, Maurizio Federico, Antonio Musio, Germana Falcone

المصدر: Aging cell
12 (2013): 312–315. doi:10.1111/acel.12034
info:cnr-pdr/source/autori:Germana Falcone 1-2; Alessia Mazzola 1; Flavia Michelini 1; Gianluca Bossi 3; Federica Censi 4; Maria G. Biferi 1; Luisa Minghetti 1; Giovanna Floridia 4; Maurizio Federico 5; Antonio Musio 6-7; Marco Crescenzi 1/titolo:Cytogenetic analysis of human cells reveals specific patterns of DNA damage in replicative and oncogene-induced senescence/doi:10.1111%2Facel.12034/rivista:Aging cell (Print)/anno:2013/pagina_da:312/pagina_a:315/intervallo_pagine:312–315/volume:12

مصطلحات موضوعية: Senescence, Cyclin-Dependent Kinase Inhibitor p21, Aging, Telomerase, DNA damage, Genetic Vectors, Biology, replicative senescence, Transduction, Genetic, Humans, Telomerase reverse transcriptase, RNA, Small Interfering, Cells, Cultured, Cellular Senescence, Cyclin-Dependent Kinase Inhibitor p16, Oncogene Activation, Lentivirus, oncogene-induced senescence, Cell Biology, Oncogenes, Fibroblasts, Telomere, Molecular biology, Cell biology, Neoplasm Proteins, cell cycle inhibitors, Cytogenetic Analysis, Oncogene-induced senescence, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e01db86aed236efaedd8a2b0a41093Test
https://pubmed.ncbi.nlm.nih.gov/23167636Test