Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Ludmila, Jornea"'
Autor:
Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104931- (2024)
Summary: Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in indivi
Externí odkaz:
https://doaj.org/article/b26cd43fea5a421e9fcee91863d8d690
Autor:
Yohann Dabi, Stéphane Suisse, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Anne Puchar, Emile Daraï, Sofiane Bendifallah
Publikováno v:
Diagnostics, Vol 14, Iss 8, p 829 (2024)
In the original publication [...]
Externí odkaz:
https://doaj.org/article/1774482cc13c440589a02bb37fe97798
Autor:
Sofiane Bendifallah, Yohann Dabi, Stéphane Suisse, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Anne Puchar, Emile Daraï
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract Endometriosis, characterized by endometrial-like tissue outside the uterus, is thought to affect 2–10% of women of reproductive age: representing about 190 million women worldwide. Numerous studies have evaluated the diagnostic value of bl
Externí odkaz:
https://doaj.org/article/d884224fbb024c2da41c52ea0a4a54fe
Autor:
Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of
Externí odkaz:
https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e
Autor:
Sofiane Bendifallah, Yohann Dabi, Stéphane Suisse, Léa Delbos, Mathieu Poilblanc, Philippe Descamps, Francois Golfier, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Anne Puchar, Emile Daraï
Publikováno v:
Diagnostics, Vol 12, Iss 5, p 1150 (2022)
The aim of our study was to describe the bioinformatics approach to analyze miRNome with Next Generation Sequencing (NGS) of 200 plasma samples from patients with and without endometriosis. Patients were prospectively included in the ENDO-miRNA study
Externí odkaz:
https://doaj.org/article/c8b4da69eb6b4b4892a014e567952e50
Autor:
Yohann Dabi, Stéphane Suisse, Anne Puchar, Léa Delbos, Mathieu Poilblanc, Philippe Descamps, Julie Haury, Francois Golfier, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Emile Daraï, Sofiane Bendifallah
Publikováno v:
Reproductive BioMedicine Online. 46:138-149
Can a saliva-based miRNA signature for endometriosis-associated infertility be designed and validated by analysing the human miRNome?The prospective ENDOmiARN study (NCT04728152) included 200 saliva samples obtained between January 2021 and June 2021
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383650ad79720cd496f1b4e67904bde0
https://doi.org/10.1016/j.rbmo.2022.09.019
https://doi.org/10.1016/j.rbmo.2022.09.019
Autor:
Yohann Dabi, Stéphane Suisse, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Anne Puchar, Emile Daraï, Sofiane Bendifallah
Publikováno v:
Diagnostics, Vol 12, Iss 1, p 175 (2022)
The pathophysiology of endometriosis remains poorly understood. The aim of the present study was to investigate functions and pathways associated with the various miRNAs differentially expressed in patients with endometriosis. Plasma samples of the 2
Externí odkaz:
https://doaj.org/article/0d9026e752be44c0a142887187e2e501
Autor:
Sofiane Bendifallah, Stéphane Suisse, Anne Puchar, Léa Delbos, Mathieu Poilblanc, Philippe Descamps, Francois Golfier, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Yohann Dabi, Emile Daraï
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 612, p 612 (2022)
Journal of Clinical Medicine; Volume 11; Issue 3; Pages: 612
Journal of Clinical Medicine
Journal of Clinical Medicine, 2022, 11 (3), pp.612. ⟨10.3390/jcm11030612⟩
Journal of Clinical Medicine; Volume 11; Issue 3; Pages: 612
Journal of Clinical Medicine
Journal of Clinical Medicine, 2022, 11 (3), pp.612. ⟨10.3390/jcm11030612⟩
International audience; Background: Endometriosis diagnosis constitutes a considerable economic burden for the healthcare system with diagnostic tools often inconclusive with insufficient accuracy. We sought to analyze the human miRNAome to define a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aabaaaf8348da6c79c15662cec8d299
https://pubmed.ncbi.nlm.nih.gov/35160066
https://pubmed.ncbi.nlm.nih.gov/35160066
Autor:
Sofiane Bendifallah, Yohann Dabi, Stéphane Suisse, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Anne Puchar, Emile Daraï
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 14; Pages: 8045
Endometriosis, defined by the presence of endometrium-like tissue outside the uterus, affects 2–10% of the female population, i.e., around 190 million women, worldwide. The aim of the prospective ENDO-miRNA study was to develop a bioinformatics app
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3848db72d0b8578c33c65b1c4133ee90
https://doi.org/10.3390/ijms23148045
https://doi.org/10.3390/ijms23148045
Autor:
Dario, Saracino, Karim, Dorgham, Agnès, Camuzat, Daisy, Rinaldi, Armelle, Rametti-Lacroux, Marion, Houot, Fabienne, Clot, Philippe, Martin-Hardy, Ludmila, Jornea, Carole, Azuar, Raffaella, Migliaccio, Florence, Pasquier, Philippe, Couratier, Sophie, Auriacombe, Mathilde, Sauvée, Claire, Boutoleau-Bretonnière, Jérémie, Pariente, Mira, Didic, Didier, Hannequin, David, Wallon, Olivier, Colliot, Bruno, Dubois, Alexis, Brice, Richard, Levy, Sylvie, Forlani
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Objective Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal traje
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::777852b77de793c65fe97bcb490afa65
https://pubmed.ncbi.nlm.nih.gov/34349004
https://pubmed.ncbi.nlm.nih.gov/34349004