المؤلفون: Rizzo, Federica, Bono, Silvia, Ruepp, Marc David, Salani, Sabrina, Ottoboni, Linda, Abati, Elena, Melzi, Valentina, Cordiglieri, Chiara, Pagliarani, Serena, De Gioia, Roberta, Anastasia, Alessia, Taiana, Michela, Garbellini, Manuela, Lodato, Simona, Kunderfranco, Paolo, Cazzato, Daniele, Cartelli, Daniele, Lonati, Caterina, Bresolin, Nereo, Comi, Giacomo, Nizzardo, Monica, Corti, Stefania

المساهمون: F. Rizzo, S. Bono, M.D. Ruepp, S. Salani, L. Ottoboni, E. Abati, V. Melzi, C. Cordiglieri, S. Pagliarani, R. De Gioia, A. Anastasia, M. Taiana, M. Garbellini, S. Lodato, P. Kunderfranco, D. Cazzato, D. Cartelli, C. Lonati, N. Bresolin, G. Comi, M. Nizzardo, S. Corti

مصطلحات موضوعية: CMT2A, Gene therapy, MFN2, MitoCharc1, Motor neuron, RNA interfering, Settore MED/26 - Neurologia, Settore MED/50 - Scienze Tecniche Mediche Applicate

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38007410; info:eu-repo/semantics/altIdentifier/wos/WOS:001107774900001; volume:80; issue:12; firstpage:1; lastpage:17; numberofpages:17; journal:CELLULAR AND MOLECULAR LIFE SCIENCES; https://hdl.handle.net/2434/1020310Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85177748338

الإتاحة: https://doi.org/10.1007/s00018-023-05018-wTest
https://hdl.handle.net/2434/1020310Test

المؤلفون: Puma, Angela, Guilbault, Samuel, Genin, Emmanuelle, C, Duranton, Christophe, Rubera, Isabelle, Bonello-Palot, Nathalie, Paquis-Flucklinger, Véronique, Sacconi, Sabrina, Bendahhou, Saïd

المساهمون: Centre Hospitalier Universitaire de Nice (CHU Nice), Laboratoire de PhysioMédecine Moléculaire (LP2M), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), EFS, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone CHU - APHM (TIMONE), Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), Université Côte d'Azur (UniCA)

المصدر: ISSN: 2642-9128 ; Journal of Biotechnology and Biomedicine ; https://hal.science/hal-04275405Test ; Journal of Biotechnology and Biomedicine, 2023, 06 (04), pp.468-475. ⟨10.26502/jbb.2642-91280109⟩.

مصطلحات موضوعية: MFN2, CMT2A, PMP22, Fibroblasts, Mitochondrial network, Fusion, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: hal-04275405; https://hal.science/hal-04275405Test; https://hal.science/hal-04275405/documentTest; https://hal.science/hal-04275405/file/J%20Biotechnol%20Biomed%202023.pdfTest

الإتاحة: https://doi.org/10.26502/jbb.2642-91280109Test
https://hal.science/hal-04275405Test
https://hal.science/hal-04275405/documentTest
https://hal.science/hal-04275405/file/J%20Biotechnol%20Biomed%202023.pdfTest

المؤلفون: Timothy J. Hines, Janice Bailey, Hedi Liu, Anyonya R. Guntur, Kevin L. Seburn, Samia L. Pratt, Jonathan R. Funke, Lisa M. Tarantino, Robert W. Burgess

المصدر: Biology; Volume 12; Issue 7; Pages: 953

مصطلحات موضوعية: Charcot–Marie–Tooth disease, CMT2A, mitofusin 2, neuromuscular disease

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Neuroscience; https://dx.doi.org/10.3390/biology12070953Test

الإتاحة: https://doi.org/10.3390/biology12070953Test

المؤلفون: Mashiat Zaman, Timothy E. Shutt

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: mitochondria, MFN2, CMT2A, mitochondrial endoplasmic reticulum contact sites, mitochondrial dynamics, mtDNA, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.858286/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/6a5845706afe491b9800c5986226f2caTest

المؤلفون: Yongchao Mou, Joshua Dein, Zhenyu Chen, Mrunali Jagdale, Xue-Jun Li

المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2021)

مصطلحات موضوعية: human embryonic stem cell, spinal motor neuron, MFN2, CMT2A, mitochondrial transport, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2021.727552/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/1addfe128ab1428db019033d0e387914Test

المؤلفون: Antonietta Franco, Xiawei Dang, Emily K Walton, Joshua N Ho, Barbara Zablocka, Cindy Ly, Timothy M Miller, Robert H Baloh, Michael E Shy, Andrew S Yoo, Gerald W Dorn II

المصدر: eLife, Vol 9 (2020)

مصطلحات موضوعية: mitochondria, CMT2A, mitofusin, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/61119Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/2983e0e917dc43b4836b3ed499e4fed0Test

المؤلفون: De Gioia, Roberta, Citterio, Gaia, Abati, Elena, Nizzardo, Monica, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania, Rizzo, Federica

المساهمون: R. De Gioia, G. Citterio, E. Abati, M. Nizzardo, N. Bresolin, G.P. Comi, S. Corti, F. Rizzo

مصطلحات موضوعية: Animal model, CMT2A, MFN2, Strengths and weaknesse, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32856204; info:eu-repo/semantics/altIdentifier/wos/WOS:000565037000002; volume:57; issue:12; firstpage:5121; lastpage:5129; numberofpages:9; journal:MOLECULAR NEUROBIOLOGY; http://hdl.handle.net/2434/760995Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089903510

الإتاحة: https://doi.org/10.1007/s12035-020-02081-3Test
http://hdl.handle.net/2434/760995Test

المؤلفون: Hines, Timothy J, Bailey, Janice, Liu, Hedi, Guntur, Anyonya R, Seburn, Kevin L, Pratt, Samia L, Funke, Jonathan R, Tarantino, Lisa M, Burgess, Robert W

المصدر: Maine Medical Center

مصطلحات موضوعية: CMT2A, Charcot–Marie–Tooth disease, mitofusin 2, neuromuscular disease

العلاقة: https://knowledgeconnection.mainehealth.org/mmc/3339Test; https://pubmed.ncbi.nlm.nih.gov/37508383Test/

الإتاحة: https://knowledgeconnection.mainehealth.org/mmc/3339Test
https://pubmed.ncbi.nlm.nih.gov/37508383Test/

المؤلفون: Bernard-Marissal, Nathalie, van Hameren, Gerben, Juneja, Manisha, Pellegrino, Christophe, Louhivuori, Lauri, Bartesaghi, Luca, Rochat, Cylia, El Mansour, Omar, Medard, Jean-Jacques, Croisier, Marie, Maclachlan, Catherine, Poirot, Olivier, Uhlén, Per, Timmerman, Vincent, Tricaud, Nicolas, Schneider, Bernard, Chrast, Roman

المساهمون: Brain and Mind Institute Lausanne, Switzerland, Ecole Polytechnique Fédérale de Lausanne (EPFL), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Department of Biomedical Sciences Antwerp, Belgium (Peripheral Neuropathy Research Group), University of Antwerp (UA), Institute Born-Bunge Antwerp, Belgium, Institut de Neurobiologie de la Méditerranée Aix-Marseille Université (INMED - INSERM U1249), Department of Medical Biochemistry and Biophysics Stockholm, Sweden, Karolinska Institutet Stockholm, Department of Neuroscience Stockholm, Sweden, Department of Clinical Neuroscience and Molecular Medicine Stockholm, Sweden, Karolinska University Hospital Stockholm, Centre of Interdisciplinary Electron Microscopy Lausanne, Switzerland, Information génomique et structurale (IGS), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire Vaudois Lausanne (CHUV), This work was supported by Swiss National Science Foundation Grant 310030L_156460/1 (to B.L.S.), ERANET E-Rare FaSMALS Grant 3ER30_160673 (to B.L.S.), a Neuromuscular Research Association Basel grant (to B.L.S., R.C., and N.B.-M), a Swedish StratNeuro program grant (to R.C.), Swedish Research Council Grant 2015-02394 (to R.C.), Labex EpiGenMed (G.v.H.), European Research Council Grant FP7-IDEAS-ERC 311610 (to N.T.), AFM-Téléthon Research Grant 20044 (to N.T. and R.C.), Fund for Scientific Research FWO-Flanders Grants G036814N and G041416N (to V.T.), the Queen Elisabeth Medical Foundation (V.T.), the Association Belge contre les maladies neuromusculaires (M.J.), the Sigrid Jusélius Foundation (L.L.), and Agence Nationale de la Recherche through the Eranet Neuron III program (C.P.)., European Project: 311610,MitoMyelin

المصدر: ISSN: 0027-8424.

مصطلحات موضوعية: Endoplasmic reticulum, Mitochondria, CMT2A, Neuropathy, Motor and sensory neurons, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30659145; info:eu-repo/grantAgreement//311610/EU/FP7-IDEAS-ERC/MitoMyelin; hal-01991291; https://amu.hal.science/hal-01991291Test; https://amu.hal.science/hal-01991291/documentTest; https://amu.hal.science/hal-01991291/file/Bernard-marissal%20et%20al_HAL.pdfTest; PUBMED: 30659145

الإتاحة: https://doi.org/10.1073/pnas.1810932116Test
https://amu.hal.science/hal-01991291Test
https://amu.hal.science/hal-01991291/documentTest
https://amu.hal.science/hal-01991291/file/Bernard-marissal%20et%20al_HAL.pdfTest

المؤلفون: Schon, K, Spasic-Boskovic, O, Brugger, K, Graves, TD, Abbs, S, Park, S-M, Ambegaonkar, G, Armstrong, R

مصطلحات موضوعية: MFN2, CMT2A, mosaicism, Charcot-Marie-tooth disease

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/262881Test

الإتاحة: https://doi.org/10.17863/CAM.8172Test
https://www.repository.cam.ac.uk/handle/1810/262881Test