المؤلفون: Genin, Emmanuelle C., di Borgo, Pauline Pozzo, Lorivel, Thomas, Hugues, Sandrine, Farinelli, Mélissa, Mauri-Crouzet, Alessandra, Lespinasse, Françoise, Godin, Lucas, Paquis-Flucklinger, Véronique, Petit-Paitel, Agnès

المساهمون: Université Côte d'Azur

المصدر: Neurobiology of Disease ; volume 195, page 106498 ; ISSN 0969-9961

مصطلحات موضوعية: Neurology

الإتاحة: https://doi.org/10.1016/j.nbd.2024.106498Test
https://api.elsevier.com/content/article/PII:S0969996124000974?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0969996124000974?httpAccept=text/plainTest

المؤلفون: Genin, Emmanuelle C., Bannwarth, Sylvie, Lespinasse, Francoise, Ortega-Vila, Bernardo, Fragaki, Konstantina, Itoh, Kie, Villa, Elodie, Lacas-Gervais, Sandra, Jokela, Manu, Auranen, Mari, Ylikallio, Emil, Mauri-Crouzet, Alessandra, Tyynismaa, Henna, Vihola, Anna, Auge, Gaelle, Cochaud, Charlotte, Sesaki, Hiromi, Ricci, Jean-Ehrland, Udd, Bjarne, Vives-Bauza, Cristofol, Paquis-Flucklinger, Veronique

المساهمون: Research Programs Unit, Clinicum, Department of Neurosciences, Neurologian yksikkö, University of Helsinki, Research Programme for Molecular Neurology, Centre of Excellence in Stem Cell Metabolism, Medicum, Doctoral Programme Brain & Mind, Henna Tyynismaa / Principal Investigator, Department of Medical and Clinical Genetics, Doctoral Programme in Integrative Life Science, HUS Neurocenter

مصطلحات موضوعية: CHCHD10, SMAJ, FTD-ALS, Mitochondria, TDP-43, AMYOTROPHIC-LATERAL-SCLEROSIS, FRONTOTEMPORAL LOBAR DEGENERATION, MOTOR-NEURON DISEASE, HEXANUCLEOTIDE REPEAT, CHCHD10 MUTATIONS, CELLS, PATIENT, ALS, NEURODEGENERATION, INDIVIDUALS, Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

العلاقة: FINSKA LÄKARESÄLLSKAPET RF; Valtion perusrahoitus/hankkeet; University of Helsinki; Academy of Finland; This work was made possible by grants to V.P-F from the ANR (French Research Agency) NoANR-16-CE16-0024-01. J-E.R. is financed by the Fondation ARC (Association pour la Recherche sur le Cancer) and E.V. is supported by La Ligue contre le Cancer.; Genin , E C , Bannwarth , S , Lespinasse , F , Ortega-Vila , B , Fragaki , K , Itoh , K , Villa , E , Lacas-Gervais , S , Jokela , M , Auranen , M , Ylikallio , E , Mauri-Crouzet , A , Tyynismaa , H , Vihola , A , Auge , G , Cochaud , C , Sesaki , H , Ricci , J-E , Udd , B , Vives-Bauza , C & Paquis-Flucklinger , V 2018 , ' Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases ' , Neurobiology of Disease , vol. 119 , pp. 159-171 . https://doi.org/10.1016/j.nbd.2018.07.027Test; ORCID: /0000-0002-2493-2422/work/49160852; ORCID: /0000-0001-5178-0703/work/52695518; http://hdl.handle.net/10138/305070Test; b4bbf468-4b47-4664-ad8c-6e16b5dc9437; 85052438409; 000445322700014

الإتاحة: http://hdl.handle.net/10138/305070Test

المؤلفون: Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, Gassen, Koen L.I., Van, Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, de Saint-Martin, Anne, Abi Warde, Marie-Thérèse, Velde, Monique G.M., de Sain-van Der, Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, Hasselt, Peter M., Van, Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique

المساهمون: 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), Department of Medical Genetics, National Centre for Mitochondrial Diseases-Nice Teaching Hospital, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Helmholtz Zentrum München = German Research Center for Environmental Health (HMGU), University Medical Center Utrecht (UMCU), 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 Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), University Hospital Carl Gustav Carus, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Baylor College of Medicine (BCM), Baylor University, Wellcome Trust Centre for Mitochondrial Research, Newcastle University Newcastle -International Centre for Life-Institute of Genetic Medicine, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Nice (CHU Nice)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: FDMITO, BIOCELL, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27989324; hal-02185218; https://hal.science/hal-02185218Test; https://hal.science/hal-02185218/documentTest; https://hal.science/hal-02185218/file/PIIS000292971630492X.pdfTest; PUBMED: 27989324; PUBMEDCENTRAL: PMC5223029

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.11.014Test
https://hal.science/hal-02185218Test
https://hal.science/hal-02185218/documentTest
https://hal.science/hal-02185218/file/PIIS000292971630492X.pdfTest

المؤلفون: Genin, Emmanuelle, C, Bannwarth, Sylvie, Ropert, Baptiste, Lespinasse, Françoise, Mauri-Crouzet, Alessandra, Augé, Gaelle, Fragaki, Konstantina, Cochaud, Charlotte, Donnarumma, Erminia, Lacas-Gervais, Sandra, Wai, Timothy, Paquis-Flucklinger, Véronique

المساهمون: 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), G5 Biologie mitochondriale – Mitochondrial biology, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre Commun de Microscopie Appliquée (CCMA), Université de Nice Sophia-Antipolis (UNSA), This work was made possible by grants to V.P.-F. from the ANR (Agence Nationale de la Recherche) ANR-16-CE16-0024-01 and from the FRM (Fondation pour la Recherche Médicale) FRM: MND202004011475., We acknowledge Thibault Léger and the Proteomics facility of the Institut Jacques Monod, University of Paris Cité for mass spectrometry analysis. We also thank Christelle Boscagli for technical help. We gratefully acknowledge the IRCAN’s Molecular and Cellular Core Imaging (PICMI) facility, supported financially by FEDER, Conseil régional Provence Alpes-Côte d’Azur, Conseil Départemental 06, Cancéropôle PACA, Gis Ibisa and Inserm, the IRCAN’s Animal core facility, supported by FEDER, Région Provence Alpes-Côte d’Azur, Conseil Départemental 06 and Inserm, the IRCAN’s Histology core facility, supported by Région Provence Alpes-Côte d’Azur, Cancéropôle PACA and Université Côte d’Azur and, the University’s CCMA Electron Microscopy facility supported by Université Côte d’Azur, Région Provence Alpes-Côte d’Azur, Conseil Départemental 06 and Gis Ibisa, ANR-16-CE16-0024,MicroGol,Implication des fonctions sécrétoires de l'appareil de Golgi dans le développement des microcéphalies postnatales avec déficit intellectuel(2016)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: amyotrophic lateral sclerosis, frontotemporal dementia, motor neuron disease, mitochondrion, ALS = amyotrophic lateral sclerosis, FTD = frontotemporal dementia, IMM = inner mitochondrial membrane, MICOS = mitochondrial contact site and cristae organizing system, MN = motor neuron, PHB = prohibitin, PLA = proximity ligation assay, RC = respiratory chain, MESH: Amyotrophic Lateral Sclerosis* / genetics Amyotrophic Lateral Sclerosis* / metabolism Animals Frontotemporal Dementia* / genetics Humans Membrane Proteins* / genetics Membrane Proteins* / metabolism Mice Mitochondria / metabolism Mitochondrial Proteins* / genetics Mitochondrial Proteins* / metabolism Motor Neurons / metabolism Prohibitins Transcription Factors / genetics, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35656794; pasteur-03853884; https://pasteur.hal.science/pasteur-03853884Test; PUBMED: 35656794

الإتاحة: https://doi.org/10.1093/brain/awac197Test
https://pasteur.hal.science/pasteur-03853884Test

المؤلفون: Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C, Fragaki, Konstantina, Volker-Touw, Catharina L M, Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L I, Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velden, Monique G M, Jans, Judith J M, Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B, Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E, Taylor, Robert W, Gagneur, Julien, van Hasselt, Peter M, Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A, Paquis-Flucklinger, Véronique

المساهمون: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Genetica Sectie Metabole Diagnostiek, Metabole ziekten patientenzorg

مصطلحات موضوعية: Journal Article

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/343449Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/343449Test

المؤلفون: Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Francoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

مصطلحات موضوعية: Letters to the Editor

وصف الملف: text/html

العلاقة: http://brain.oxfordjournals.org/cgi/content/short/138/10/e386Test; http://dx.doi.org/10.1093/brain/awv116Test

الإتاحة: https://doi.org/10.1093/brain/awv116Test
http://brain.oxfordjournals.org/cgi/content/short/138/10/e386Test

المؤلفون: Genin, Emmanuelle C, Plutino, Morgane, Bannwarth, Sylvie, Villa, Elodie, Cisneros‐Barroso, Eugenia, Roy, Madhuparna, Ortega‐Vila, Bernardo, Fragaki, Konstantina, Lespinasse, Françoise, Pinero‐Martos, Estefania, Augé, Gaëlle, Moore, David, Burté, Florence, Lacas‐Gervais, Sandra, Kageyama, Yusuke, Itoh, Kie, Yu‐Wai‐Man, Patrick, Sesaki, Hiromi, Ricci, Jean‐Ehrland, Vives‐Bauza, Cristofol, Paquis‐Flucklinger, Véronique

المصدر: EMBO Molecular Medicine ; volume 8, issue 1, page 58-72 ; ISSN 1757-4676 1757-4684

مصطلحات موضوعية: Molecular Medicine

الإتاحة: https://doi.org/10.15252/emmm.201505496Test

المؤلفون: Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

المصدر: Brain ; volume 139, issue 4, page e22-e22 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awv368Test
http://academic.oup.com/brain/article-pdf/139/4/e22/7460362/awv368.pdfTest

المؤلفون: Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

المصدر: Brain ; volume 138, issue 8, page e373-e373 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awu385Test
http://academic.oup.com/brain/article-pdf/138/8/e373/11141420/awu385.pdfTest

المؤلفون: Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

المصدر: Brain ; volume 138, issue 9, page e377-e377 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awv015Test
http://academic.oup.com/brain/article-pdf/138/9/e377/11141447/awv015.pdfTest