Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis
Feneberg, Emily, Oeckl, Patrick, Steinacker, Petra, Verde, Federico, Barro, Christian, Van Damme, Philip, Gray, Elizabeth, Grosskreutz, Julian, Jardel, Claude, Kuhle, Jens, Koerner, Sonja, Lamari, Foudil, Amador, Maria Del Mar, Mayer, Benjamin, Morelli, Claudia, Muckova, Petra, Petri, Susanne, Poesen, Koen, Raaphorst, Joost, Salachas, François, Silani, Vincenzo, Stubendorff, Beatrice, Turner, Martin R, Verbeek, Marcel M, Weishaupt, Jochen H, Weydt, Patrick, Ludolph, Albert C, Otto, Markus
Published in Neurology (02.01.2018)
Published in Neurology (02.01.2018)
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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C, Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A, Helbig, Katherine L, Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah
Published in Brain (London, England : 1878) (01.09.2016)
Published in Brain (London, England : 1878) (01.09.2016)
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Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
Bris, Celine, Goudenège, David, Desquiret-Dumas, Valerie, Gueguen, Naig, Bannwarth, Sylvie, Gaignard, Pauline, Rucheton, Benoit, Trimouille, Aurelien, Allouche, Stephane, Rouzier, Cecile, Saadi, Samira, Jardel, Claude, Slama, Abdel, Barth, Magalie, Verny, Christophe, Spinazzi, Marco, Cassereau, Julien, Colin, Estelle, Armelle, Magot, Pereon, Yann, Martin-Negrier, Marie Laure, Paquis-Flucklinger, Veronique, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia, Procaccio, Vincent
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study
Steinacker, Petra, Feneberg, Emily, Halbgebauer, Steffen, Witzel, Simon, Verde, Federico, Oeckl, Patrick, Van Damme, Philip, Gaur, Nayana, Gray, Elizabeth, Grosskreutz, Julian, Jardel, Claude G., Kachanov, Mykyta, Kuhle, Jens, Lamari, Foudil, Maceski, Aleksandra, Del Mar Amador, Maria, Mayer, Benjamin, Morelli, Claudia, Petri, Susanne, Poesen, Koen, Raaphorst, Joost, Salachas, François, Silani, Vincenzo, Turner, Martin R., Verbeek, Marcel M., Volk, Alexander E., Weishaupt, Jochen H., Weydt, Patrick, Ludolph, Albert C., Otto, Markus
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.04.2021)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.04.2021)
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Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis
Chartier, Aymeric, Klein, Pierre, Pierson, Stéphanie, Barbezier, Nicolas, Gidaro, Teresa, Casas, François, Carberry, Steven, Dowling, Paul, Maynadier, Laurie, Bellec, Maëlle, Oloko, Martine, Jardel, Claude, Moritz, Bodo, Dickson, George, Mouly, Vincent, Ohlendieck, Kay, Butler-Browne, Gillian, Trollet, Capucine, Simonelig, Martine
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Severe respiratory complex III defect prevents liver adaptation to prolonged fasting
Kremer, Laura S, Stead, Caroline L’hermitte, Lesimple, Pierre, Gilleron, Mylène, Filaut, Sandrine, Jardel, Claude, Haack, Tobias B, Strom, Tim M, Meitinger, Thomas, Azzouz, Hatem, Tebib, Neji, Baulny, Hélène Ogier de, Touati, Guy, Prokisch, Holger, Lombès, Anne
Published in Journal of hepatology (01.08.2016)
Published in Journal of hepatology (01.08.2016)
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Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
González-del Angel, Ariadna, Bisciglia, Michela, Vargas-Cañas, Steven, Fernandez-Valverde, Francisca, Kazakova, Ekaterina, Escobar, Rosa Elena, Romero, Norma B., Jardel, Claude, Rucheton, Benoit, Stojkovic, Tanya, Malfatti, Edoardo
Published in Frontiers in neurology (04.10.2019)
Published in Frontiers in neurology (04.10.2019)
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Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
Giron, Camille, Roze, Emmanuel, Degos, Bertrand, Méneret, Aurélie, Jardel, Claude, Lannuzel, Annie, Mochel, Fanny
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (18.04.2018)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (18.04.2018)
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Mitochondrial DNA Content, an Inaccurate Biomarker of Mitochondrial Alteration in Human Immunodeficiency Virus-Related Lipodystrophy
MIN JI KIM, JARDEL, Claude, BARTHELEMY, Cyrille, JAN, Véronique, PHILIPPE BASTARD, Jean, FILLAUT-CHAPIN, Sandrine, HOURY, Sydney, CAPEAU, Jacqueline, LOMBES, Anne
Published in Antimicrobial Agents and Chemotherapy (01.05.2008)
Published in Antimicrobial Agents and Chemotherapy (01.05.2008)
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Transient neonatal renal failure and massive polyuria in MEGDEL syndrome
Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Published in Molecular genetics and metabolism reports (01.06.2016)
Published in Molecular genetics and metabolism reports (01.06.2016)
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Hepatitis C virus viral recurrence and liver mitochondrial damage after liver transplantation in HIV–HCV co-infected patients
Duclos-Vallée, Jean-Charles, Vittecoq, Daniel, Teicher, Elina, Feray, Cyrille, Roque-Afonso, Anne-Marie, Lombès, Anne, Jardel, Claude, Gigou, Michelle, Dussaix, Elisabeth, Sebagh, Mylène, Guettier, Catherine, Azoulay, Daniel, Adam, René, Ichaï, Philippe, Saliba, Faouzi, Roche, Bruno, Castaing, Denis, Bismuth, Henri, Samuel, Didier
Published in Journal of hepatology (01.03.2005)
Published in Journal of hepatology (01.03.2005)
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Genetic diagnosis of Mendelian disorders via RNA sequencing
Kremer, Laura S, Bader, Daniel M, Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B, Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W, Ghezzi, Daniele, Mayr, Johannes A, Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Published in Nature communications (12.06.2017)
Published in Nature communications (12.06.2017)
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Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases
Wahbi, Karim, Bougouin, Wulfran, Béhin, Anthony, Stojkovic, Tanya, Bécane, Henri Marc, Jardel, Claude, Berber, Nawal, Mochel, Fanny, Lombès, Anne, Eymard, Bruno, Duboc, Denis, Laforêt, Pascal
Published in European heart journal (07.11.2015)
Published in European heart journal (07.11.2015)
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ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Desai, Radha, Frazier, Ann E, Durigon, Romina, Patel, Harshil, Jones, Aleck W, Dalla Rosa, Ilaria, Lake, Nicole J, Compton, Alison G, Mountford, Hayley S, Tucker, Elena J, Mitchell, Alice L R, Jackson, Deborah, Sesay, Abdul, Di Re, Miriam, van den Heuvel, Lambert P, Burke, Derek, Francis, David, Lunke, Sebastian, McGillivray, George, Mandelstam, Simone, Mochel, Fanny, Keren, Boris, Jardel, Claude, Turner, Anne M, Ian Andrews, P, Smeitink, Jan, Spelbrink, Johannes N, Heales, Simon J, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi, Lombès, Anne, Holt, Ian J, Thorburn, David R, Spinazzola, Antonella
Published in Brain (London, England : 1878) (01.06.2017)
Published in Brain (London, England : 1878) (01.06.2017)
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CSF tau markers are correlated with hippocampal volume in Alzheimer's disease
de Souza, Leonardo C, Chupin, Marie, Lamari, Foudil, Jardel, Claude, Leclercq, Delphine, Colliot, Olivier, Lehéricy, Stéphane, Dubois, Bruno, Sarazin, Marie
Published in Neurobiology of aging (01.07.2012)
Published in Neurobiology of aging (01.07.2012)
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eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data
Goudenège, David, Bris, Celine, Hoffmann, Virginie, Desquiret-Dumas, Valerie, Jardel, Claude, Rucheton, Benoit, Bannwarth, Sylvie, Paquis-Flucklinger, Veronique, Lebre, Anne Sophie, Colin, Estelle, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal, Lenaers, Guy, Procaccio, Vincent
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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Cerebrospinal fluid biomarkers in the differential diagnosis of Alzheimer's disease from other cortical dementias
de Souza, Leonardo Cruz, Lamari, Foudil, Belliard, Serge, Jardel, Claude, Houillier, Caroline, De Paz, Raphael, Dubois, Bruno, Sarazin, Marie
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2011)
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2011)
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