Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
Gerber, Sylvie, Lessard, Lola, Rouzier, Cécile, Ait‐el‐Mkadem Saadi, Samira, Ameli, Roxana, Thobois, Stéphane, Abouaf, Lucie, Bouhour, Françoise, Kaplan, Josseline, Putoux, Audrey, Pegat, Antoine, Rozet, Jean‐Michel
Published in EMBO molecular medicine (07.08.2023)
Published in EMBO molecular medicine (07.08.2023)
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Journal Article
Neurologic features and genotype-phenotype correlation in Wolfram syndrome
Chaussenot, Annabelle, Bannwarth, Sylvie, Rouzier, Cecile, Vialettes, Bernard, Mkadem, Samira Ait El, Chabrol, Brigitte, Cano, Aline, Labauge, Pierre, Paquis-Flucklinger, Véronique
Published in Annals of neurology (01.03.2011)
Published in Annals of neurology (01.03.2011)
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Journal Article
Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases
Zereg, Elamine, Chaussenot, Annabelle, Morel, Godelieve, Bannwarth, Sylvie, Sacconi, Sabrina, Soriani, Marie‐Hélène, Attarian, Shahram, Cano, Aline, Pouget, Jean, Bellance, Rémi, Tranchant, Christine, Lannes, Béatrice, Paula, André Maues, Saadi Ait‐El‐Mkadem, Samira, Chafino, Bernadette, Berthet, Mathieu, Fragaki, Konstantina, Paquis‐Flucklinger, Véronique, Rouzier, Cécile
Published in Human mutation (01.08.2020)
Published in Human mutation (01.08.2020)
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Journal Article
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations
Serag, Mounir, Plutino, Morgane, Charles, Perrine, Azulay, Jean-Philippe, Chaussenot, Annabelle, Paquis-Flucklinger, Véronique, Ait-El-Mkadem Saadi, Samira, Rouzier, Cécile
Published in Genes (29.11.2023)
Published in Genes (29.11.2023)
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Journal Article
Adiponectin downregulates its own production and the expression of its AdipoR2 receptor in transgenic mice
Bauche, Isabelle B., Ait El Mkadem, Samira, Rezsohazy, René, Funahashi, Tohru, Maeda, Norikazu, Miranda, Lisa Miranda, Brichard, Sonia M.
Published in Biochemical and biophysical research communications (14.07.2006)
Published in Biochemical and biophysical research communications (14.07.2006)
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Journal Article
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
BANNWARTH, Sylvie, AIT-EL-MKADEM, Samira, VERSCHUEREN, Annie, ROUZIER, Cecile, LE BER, Isabelle, AUGE, Gaëlle, COCHAUD, Charlotte, LESPINASSE, Françoise, N'GUYEN, Karine, DE SEPTENVILLE, Anne, BRICE, Alexis, YU-WAI-MAN, Patrick, CHAUSSENOT, Annabelle, SESAKI, Hiromi, POUGET, Jean, PAQUIS-FLUCKLINGER, Véronique, GENIN, Emmanuelle C, LACAS-GERVAIS, Sandra, FRAGAKI, Konstantina, BERG-ALONSO, Laetitia, KAGEYAMA, Yusuke, SERRE, Valérie, MOORE, David G
Published in Brain (London, England : 1878) (01.08.2014)
Published in Brain (London, England : 1878) (01.08.2014)
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Journal Article
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
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 Velde, 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
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Journal Article
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency
Fragaki, Konstantina, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Gire, Catherine, Mengual, Raymond, Bonesso, Laurent, Bénéteau, Marie, Ricci, Jean-Ehrland, Desquiret-Dumas, Valérie, Procaccio, Vincent, Rötig, Agnès, Paquis-Flucklinger, Véronique
Published in European journal of human genetics : EJHG (01.05.2013)
Published in European journal of human genetics : EJHG (01.05.2013)
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Journal Article
ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data
Labory, Justine, Le Bideau, Gwendal, Pratella, David, Yao, Jean-Elisée, Ait-El-Mkadem Saadi, Samira, Bannwarth, Sylvie, El-Hami, Loubna, Paquis-Fluckinger, Véronique, Bottini, Silvia
Published in Bioinformatics (Oxford, England) (14.10.2022)
Published in Bioinformatics (Oxford, England) (14.10.2022)
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Journal Article
NDUFS6 related Leigh syndrome: a case report and review of the literature
Rouzier, Cécile, Chaussenot, Annabelle, Fragaki, Konstantina, Serre, Valérie, Ait-El-Mkadem, Samira, Richelme, Christian, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie
Published in Journal of human genetics (01.07.2019)
Published in Journal of human genetics (01.07.2019)
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Journal Article
Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives
Labory, Justine, Fierville, Morgane, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Paquis-Flucklinger, Véronique, Bottini, Silvia
Published in Frontiers in molecular biosciences (02.11.2020)
Published in Frontiers in molecular biosciences (02.11.2020)
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Journal Article
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
Plutino, Morgane, Chaussenot, Annabelle, Rouzier, Cécile, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie
Published in BMC medical genetics (07.04.2018)
Published in BMC medical genetics (07.04.2018)
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Journal Article
UQCRC2-related mitochondrial complex III deficiency, about 7 patients
Bansept, Claire, Gaignard, Pauline, Lebigot, Elise, Eyer, Didier, Delplancq, Geoffroy, Hoebeke, Célia, Mazodier, Karin, Ledoyen, Anaïs, Rouzier, Cécile, Fragaki, Konstantina, Ait-El-Mkadem Saadi, Samira, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Feillet, François, Abi Warde, Marie-Thérèse
Published in Mitochondrion (01.01.2023)
Published in Mitochondrion (01.01.2023)
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Journal Article
Overexpression of Adiponectin Targeted to Adipose Tissue in Transgenic Mice: Impaired Adipocyte Differentiation
Bauche, Isabelle B, El Mkadem, Samira Ait, Pottier, Anne-Marie, Senou, Maximin, Many, Marie-Christine, Rezsohazy, René, Penicaud, Luc, Maeda, Norikazu, Funahashi, Tohru, Brichard, Sonia M
Published in Endocrinology (Philadelphia) (01.04.2007)
Published in Endocrinology (Philadelphia) (01.04.2007)
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Journal Article
FTO gene associates to metabolic syndrome in women with polycystic ovary syndrome
Attaoua, Redha, Ait El Mkadem, Samira, Radian, Serban, Fica, Simona, Hanzu, Felicia, Albu, Alice, Gheorghiu, Monica, Coculescu, Mihai, Grigorescu, Florin
Published in Biochemical and biophysical research communications (22.08.2008)
Published in Biochemical and biophysical research communications (22.08.2008)
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Journal Article
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability
Ait-El-Mkadem Saadi, Samira, Kaphan, Elsa, Morales Jaurrieta, Amaya, Fragaki, Konstantina, Chaussenot, Annabelle, Bannwarth, Sylvie, Maues De Paula, André, Paquis-Flucklinger, Véronique, Rouzier, Cécile
Published in European journal of medical genetics (01.12.2022)
Published in European journal of medical genetics (01.12.2022)
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Journal Article
CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
Morel, Godelieve, Rouzier, Cécile, Chaussenot, Annabelle, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Genin, Emmanuelle C., Augé, Gaëlle, Chabrol, Brigitte, Pouget, Jean, Soriani, Marie Hélène, Sacconi, Sabrina, Paquis-Flucklinger, Véronique
Published in Annals of neurology (01.11.2015)
Published in Annals of neurology (01.11.2015)
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Journal Article
Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
Fragaki, Konstantina, Chaussenot, Annabelle, Benoist, Jean-François, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Rouzier, Cécile, Cochaud, Charlotte, Paquis-Flucklinger, Véronique
Published in Biological research (08.01.2016)
Published in Biological research (08.01.2016)
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Journal Article
Association of insulin receptor genetic variants with polycystic ovary syndrome in a population of women from Central Europe
Hanzu, Felicia A., M.D, Radian, Serban, M.D., Ph.D, Attaoua, Redha, Ph.D, Ait-El-Mkadem, Samira, Ph.D, Fica, Simona, M.D, Gheorghiu, Monica, M.D, Coculescu, Mihai, M.D., Ph.D, Grigorescu, Florin, M.D., Ph.D
Published in Fertility and sterility (01.11.2010)
Published in Fertility and sterility (01.11.2010)
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