المؤلفون: Mollet, J, Giurgea, I, Schlemmer, D, Dallner, G, Chretien, D, Delahodde, A, Bacq, D, de Lonlay, P, Munnich, A, Rotig, A

المصدر: The Journal of clinical investigation. 117(3):765-772

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:12527013Test

المؤلفون: Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex, Claude Besmond, Laurence Hubert, Magalie Barth, Inês A. Barbosa, Charu Deshpande, Manali Chitre, Sarju G. Mehta, Eric J.M. Wever, Pascale Marcorelles, Sandra Donkervoort, Dimah Saade, Carsten G. Bönnemann, Katherine R. Chao, Chunyu Cai, Susan T. Iannaccone, Andrew F. Dean, Robert McFarland, Frédéric M. Vaz, Agnès Delahodde, Robert W. Taylor, Agnès Rötig

المصدر: HGG Advances, Vol 3, Iss 2, Pp 100097- (2022)

مصطلحات موضوعية: cardiolipin, mitochondria, mitochondrial disease, WES/WGS, OXPHOS defect, mitochondrial phospholipid, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000136Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/3e06951a912a4d6080e971a99e6d10b0Test

المؤلفون: Nicola Facchinello, Claudio Laquatra, Lisa Locatello, Giorgia Beffagna, Raquel Brañas Casas, Chiara Fornetto, Alberto Dinarello, Laura Martorano, Andrea Vettori, Giovanni Risato, Rudy Celeghin, Giacomo Meneghetti, Massimo Mattia Santoro, Agnes Delahodde, Francesco Vanzi, Andrea Rasola, Luisa Dalla Valle, Maria Berica Rasotto, Tiziana Lodi, Enrico Baruffini, Francesco Argenton, Natascia Tiso

المصدر: Cell Death and Disease, Vol 12, Iss 1, Pp 1-18 (2021)

مصطلحات موضوعية: Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-4889Test

الوصول الحر: https://doaj.org/article/e5b4a8a5e87b4483a23748afb74ea087Test

المؤلفون: Thompson, Kyle, Bianchi, Lucas, Rastelli, Francesca, Piron-Prunier, Florence, Ayciriex, Sophie, Besmond, Claude, Hubert, Laurence, Barth, Magalie, Barbosa, Inês, Deshpande, Charu, Chitre, Manali, Mehta, Sarju, Wever, Eric J.M., Marcorelles, Pascale, Donkervoort, Sandra, Saade, Dimah, Bönnemann, Carsten, Chao, Katherine, Cai, Chunyu, Iannaccone, Susan, Dean, Andrew, Mcfarland, Robert, Vaz, Frédéric, Delahodde, Agnès, Taylor, Robert, Rötig, Agnès

المساهمون: Newcastle University Newcastle, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Institut des Sciences Analytiques (ISA), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), King‘s College London, Guy's and St Thomas NHS Foundation Trust London, Cambridge University Hospitals - NHS (CUH), University of Cambridge UK (CAM), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Amsterdam Public Health Research Institute The Netherlands, Amsterdam UMC - Amsterdam University Medical Center, Laboratoire sur les interactions Epithéliums Neurones (LIEN), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), National Institute of Neurological Disorders and Stroke Bethesda (NINDS), National Institutes of Health Bethesda, MD, USA (NIH), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, University of Texas Southwestern Medical Center Dallas, Newcastle Upon Tyne Hospitals NHS Foundation Trust, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-15-RAR3-0012,GENOMIT,Mitochondrial Disorders- from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options(2015), ANR-16-CE16-0025,MitoMotor,Mutations du gène CHCHD10: comment un déficit mitochondrial conduit à la mort des motoneurones(2016)

المصدر: EISSN: 2666-2477 ; Human Genetics and Genomics Advances ; https://hal.science/hal-03675447Test ; Human Genetics and Genomics Advances, 2022, 3 (2), pp.100097. ⟨10.1016/j.xhgg.2022.100097⟩ ; https://www.sciencedirect.com/science/article/pii/S2666247722000136?via%3DihubTest

مصطلحات موضوعية: OXPHOS defect, WES/WGS, cardiolipin, mitochondria, mitochondrial disease, mitochondrial phospholipid, [CHIM.ANAL]Chemical Sciences/Analytical chemistry, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [CHIM]Chemical Sciences

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35321494; hal-03675447; https://hal.science/hal-03675447Test; https://hal.science/hal-03675447/documentTest; https://hal.science/hal-03675447/file/A1608201-6CCE-4BB0-A991-F48AA09F9EF7.pdf%26pub_id%3D281161Test; PUBMED: 35321494; PUBMEDCENTRAL: PMC8935507

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100097Test
https://hal.science/hal-03675447Test
https://hal.science/hal-03675447/documentTest
https://hal.science/hal-03675447/file/A1608201-6CCE-4BB0-A991-F48AA09F9EF7.pdf%26pub_id%3D281161Test

المؤلفون: Facchinello, Nicola, Laquatra, Claudio, Locatello, Lisa, Beffagna, Giorgia, Brañas Casas, Raquel, Fornetto, Chiara, Dinarello, Alberto, Martorano, Laura, Vettori, Andrea, Risato, Giovanni, Celeghin, Rudy, Meneghetti, Giacomo, Santoro, Massimo Mattia, Delahodde, Agnes, Vanzi, Francesco, Rasola, Andrea, Dalla Valle, Luisa, Rasotto, Maria Berica, Lodi, Tiziana, Baruffini, Enrico, Argenton, Francesco, Tiso, Natascia

المساهمون: Facchinello, Nicola, Laquatra, Claudio, Locatello, Lisa, Beffagna, Giorgia, Brañas Casas, Raquel, Fornetto, Chiara, Dinarello, Alberto, Martorano, Laura, Vettori, Andrea, Risato, Giovanni, Celeghin, Rudy, Meneghetti, Giacomo, Santoro, Massimo Mattia, Delahodde, Agne, Vanzi, Francesco, Rasola, Andrea, Dalla Valle, Luisa, Rasotto, Maria Berica, Lodi, Tiziana, Baruffini, Enrico, Argenton, Francesco, Tiso, Natascia

مصطلحات موضوعية: zebrafish, POLG, mitochondrial disease

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33469036; info:eu-repo/semantics/altIdentifier/wos/WOS:000612045000003; volume:12; issue:1; firstpage:100; lastpage:117; numberofpages:18; journal:CELL DEATH & DISEASE; http://hdl.handle.net/11562/1035469Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099598989

الإتاحة: https://doi.org/10.1038/s41419-020-03359-zTest
http://hdl.handle.net/11562/1035469Test

المؤلفون: Collier, Jack, Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo, Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew, Alsaif, Hessa, Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês, Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan, Rivier, Francois, Ryten, Mina, Mcfarland, Robert, Delahodde, Agnès, Mcwilliams, Thomas, Koenig, Michel, Taylor, Robert

المساهمون: Newcastle University Newcastle, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University College of London London (UCL), Albert Einstein College of Medicine New York, Universität Zürich Zürich = University of Zurich (UZH), Eberhard Karls Universität Tübingen = University of Tübingen, University of Miami Leonard M. Miller School of Medicine (UMMSM), King‘s College London, Guy's and St Thomas' Hospital London

المصدر: ISSN: 0028-4793.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03270279; https://hal.science/hal-03270279Test; https://hal.science/hal-03270279/documentTest; https://hal.science/hal-03270279/file/2021%20Collier%20et%20al.%20Developmental%20consequences%20of%20defective%20ATG7.pdfTest

الإتاحة: https://doi.org/10.1056/NEJMoa1915722Test
https://hal.science/hal-03270279Test
https://hal.science/hal-03270279/documentTest
https://hal.science/hal-03270279/file/2021%20Collier%20et%20al.%20Developmental%20consequences%20of%20defective%20ATG7.pdfTest

المؤلفون: Di Punzio, Giulia, Di Noia, Maria, Antonietta, Delahodde, Agnès, Sellem, Carole, H., Donnini, Claudia, Palmieri, Luigi, Lodi, Tiziana, Dallabona, Cristina

المساهمون: Università degli studi di Parma = University of Parma (UNIPR), Università degli studi di Bari Aldo Moro = University of Bari Aldo Moro (UNIBA), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1661-6596.

مصطلحات موضوعية: yeast model, mitochondrial diseases, ANT1 mutations, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology

العلاقة: hal-03382918; https://hal.science/hal-03382918Test; https://hal.science/hal-03382918/documentTest; https://hal.science/hal-03382918/file/2021%20%20ANT%20ijms.pdfTest

الإتاحة: https://doi.org/10.3390/ijms22094461Test
https://hal.science/hal-03382918Test
https://hal.science/hal-03382918/documentTest
https://hal.science/hal-03382918/file/2021%20%20ANT%20ijms.pdfTest

المؤلفون: Collier, JJ, Guissart, C, Oláhová, M, Sasorith, S, Piron-Prunier, F, Suomi, F, Zhang, D, Martinez-Lopez, N, Leboucq, N, Bahr, A, Azzarello-Burri, S, Reich, S, Schöls, L, Polvikoski, TM, Meyer, P, Larrieu, L, Schaefer, AM, Alsaif, HS, Alyamani, S, Zuchner, S, Barbosa, IA, Deshpande, C, Pyle, A, Rauch, A, Synofzik, M, Alkuraya, FS, Rivier, F, Ryten, M, McFarland, R, Delahodde, A, McWilliams, TG, Koenig, M, Taylor, RW

المصدر: New England Journal of Medicine , 384 (25) pp. 2406-2417. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10130931/1/nejmoa1915722.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10130931Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10130931/1/nejmoa1915722.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10130931Test/

المؤلفون: Giulia di Punzio, Maria Antonietta Di Noia, Agnès Delahodde, Carole Sellem, Claudia Donnini, Luigi Palmieri, Tiziana Lodi, Cristina Dallabona

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 9; Pages: 4461

مصطلحات موضوعية: yeast model, mitochondrial diseases, ANT1 mutations

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Biology; https://dx.doi.org/10.3390/ijms22094461Test

الإتاحة: https://doi.org/10.3390/ijms22094461Test

المؤلفون: Chen, Yanfang, Leboutet, Romane, Largeau, Céline, Zentout, Siham, Lefebvre, Christophe, Delahodde, Agnès, Culetto, Emmanuel, Legouis, Renaud

المساهمون: Agence Nationale de la Recherche, Association pour la Recherche contre le Cancer, Ligue contre le Cancer

المصدر: Journal of Cell Biology ; volume 220, issue 4 ; ISSN 0021-9525 1540-8140

الإتاحة: https://doi.org/10.1083/jcb.201909139Test