Infantile systemic hyalinosis
Meyer, P, Tournier, C, Bessis, D, Rolland, A, Carme, E, Roubertie, A, Ribrault, A, Hajj-Verkindere, E, Lebre, A.S, Rivier, F
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Un nouveau variant du gène de l’AVP dans le diabète insipide central
Barriquand, R, Lebre, A.S, Levy-Bohbot, N, Lukas-Croisier, C, Decoudier, B, Delemer, B
Published in Annales d'endocrinologie (01.09.2016)
Published in Annales d'endocrinologie (01.09.2016)
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LRP1 expression in colon cancer predicts clinical outcome
Boulagnon-Rombi, Camille, Schneider, Christophe, Leandri, Chloé, Jeanne, Albin, Grybek, Virginie, Bressenot, Aude Marchal, Barbe, Coralie, Marquet, Benjamin, Nasri, Saviz, Coquelet, Christelle, Fichel, Caroline, Bouland, Nicole, Bonnomet, Arnaud, Kianmanesh, Reza, Lebre, Anne-Sophie, Bouché, Olivier, Diebold, Marie-Danièle, Bellon, Georges, Dedieu, Stéphane
Published in Oncotarget (06.02.2018)
Published in Oncotarget (06.02.2018)
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A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome
Assouline, Z., Jambou, M., Rio, M., Bole-Feysot, C., de Lonlay, P., Barnerias, C., Desguerre, I., Bonnemains, C., Guillermet, C., Steffann, J., Munnich, A., Bonnefont, J.P., Rötig, A., Lebre, A.S.
Published in Biochimica et biophysica acta (01.06.2012)
Published in Biochimica et biophysica acta (01.06.2012)
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Variant monoallélique IFT140 et polykystose rénale
Salhi, S., Doreille, A., Dancer, M., Boueilh, A., Filipozzi, P., El Karoui, K., Ponce, F., Raymond, L., Lebre, A.S., Mesnard, L.
Published in Néphrologie & thérapeutique (01.09.2022)
Published in Néphrologie & thérapeutique (01.09.2022)
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Néphroangionophtise : quand néphroangiosclérose et hypertension maligne cachent une néphronophtise chez l’adulte
Doreille, A., Raymond, L., Lebre, A.S., Linster, C., Karras, A., Khayat, R., Buob, D., Luque, Y., Rafat, C., Mesnard, L.
Published in Néphrologie & thérapeutique (01.09.2020)
Published in Néphrologie & thérapeutique (01.09.2020)
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The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
Brahimi, N., Jambou, M., Sarzi, E., Serre, V., Boddaert, N., Romano, S., de Lonlay, P., Slama, A., Munnich, A., Rötig, A., Bonnefont, J.P., Lebre, A.S.
Published in Molecular genetics and metabolism (01.07.2009)
Published in Molecular genetics and metabolism (01.07.2009)
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Étude phénotypique des mutations rares responsables de diabète mitochondrial
Decoux-Poullot, A.G., Paquis, V., Bannwarth, S., Procaccio, V., Lebre, A.S., Jardel, C., Vialettes, B., Chevalier, N.
Published in Annales d'endocrinologie (01.09.2017)
Published in Annales d'endocrinologie (01.09.2017)
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Journal Article
Mitochondrial ND5 mutations mimicking brainstem tectal glioma
Rio, M, Lebre, A S, de Lonlay, P, Valayannopoulos, V, Desguerre, I, Dufier, J-L, Grévent, D, Zilbovicius, M, Tréguier, C, Brunelle, F, de Baracé, C, Kaplan, J, Espinase-Berrod, M A, Sainte-Rose, C, Puget, S, Rotig, A, Munnich, A, Boddaert, N
Published in Neurology (06.07.2010)
Published in Neurology (06.07.2010)
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1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency
Boddaert, N., Romano, S., Funalot, B., Rio, M., Sarzi, E., Lebre, A.S., Bahi-Buisson, N., Valayannopoulos, V., Desguerre, I., Seidenwurm, D., Brunelle, F., Brami-Zylberberg, F., Rötig, A., Munnich, A., de Lonlay, P.
Published in Molecular genetics and metabolism (2008)
Published in Molecular genetics and metabolism (2008)
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Journal Article
Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions
Seilhean, Danielle, Takahashi, Junko, El Hachimi, Khalid Hamid, Fujigasaki, Hiroto, Lebre, Anne-Sophie, Biancalana, Valérie, Dürr, Alexandra, Salachas, François, Hogenhuis, Jean, de Thé, Hugues, Hauw, Jean-Jacques, Meininger, Vincent, Brice, Alexis, Duyckaerts, Charles
Published in Acta neuropathologica (01.07.2004)
Published in Acta neuropathologica (01.07.2004)
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PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases
Takahashi, Junko, Fujigasaki, Hiroto, Iwabuchi, Kiyoshi, Bruni, Amalia C, Uchihara, Toshiki, El Hachimi, Khalid H, Stevanin, Giovanni, Dürr, Alexandra, Lebre, Anne-Sophie, Trottier, Yvon, de Thé, Hugues, Tanaka, Junichi, Hauw, Jean-Jacques, Duyckaerts, Charles, Brice, Alexis
Published in Neurobiology of disease (01.08.2003)
Published in Neurobiology of disease (01.08.2003)
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Effet de la déplétion aiguë diurne entryptophane (DAT) sur le sommeil de l'homme normal
Arnulf, I., Quintin, P., Alvarez, J.C., Varoquaux, O., Lebre, A.S., Derenne, J.P., Allilaire, J.F., Leboyer, M.
Published in Neurophysiologie clinique (01.05.1998)
Published in Neurophysiologie clinique (01.05.1998)
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Correlations radiologiques et genetiques chez 36 enfants porteurs d’une cytopathie mitochondriale avec mutation genetique identifiee
Maurin, L., Lebre, A.S., Rio, M., De Lonlay, P., Grevent, D., Berteloot, L., Rotig, A., Munnich, A., Brunelle, F., Boddaert, N.
Published in Journal de radiologie (01.10.2008)
Published in Journal de radiologie (01.10.2008)
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