Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context

Authors: 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

Source: EBioMedicine, Vol 99, Iss , Pp 104931- (2024)

Subject Terms: SCA27B, Hereditary cerebellar ataxia, GAA expansion, Diagnosis, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396423004978; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/b26cd43fea5a421e9fcee91863d8d690

Correction: Dabi et al. Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression. Diagnostics 2022, 12, 175

Authors: Yohann Dabi, Stéphane Suisse, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Anne Puchar, Emile Daraï, Sofiane Bendifallah

Source: Diagnostics, Vol 14, Iss 8, p 829 (2024)

Subject Terms: n/a, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4418/14/8/829; https://doaj.org/toc/2075-4418

Access URL: https://doaj.org/article/1774482cc13c440589a02bb37fe97798

MicroRNome analysis generates a blood-based signature for endometriosis

Authors: Sofiane Bendifallah, Yohann Dabi, Stéphane Suisse, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Anne Puchar, Emile Daraï

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/d884224fbb024c2da41c52ea0a4a54fe

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Authors: 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

Source: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e

Endometriosis Associated-miRNome Analysis of Blood Samples: A Prospective Study

Authors: Sofiane Bendifallah, Yohann Dabi, Stéphane Suisse, Léa Delbos, Mathieu Poilblanc, Philippe Descamps, Francois Golfier, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Anne Puchar, Emile Daraï

Source: Diagnostics, Vol 12, Iss 5, p 1150 (2022)

Subject Terms: endometriosis, miRNA, NGS, bioinformatics, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4418/12/5/1150; https://doaj.org/toc/2075-4418

Access URL: https://doaj.org/article/c8b4da69eb6b4b4892a014e567952e50

Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression

Authors: Yohann Dabi, Stéphane Suisse, Ludmila Jornea, Delphine Bouteiller, Cyril Touboul, Anne Puchar, Emile Daraï, Sofiane Bendifallah

Source: Diagnostics, Vol 12, Iss 1, p 175 (2022)

Subject Terms: endometriosis, miRNA, pathophysiology, pathways, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4418/12/1/175; https://doaj.org/toc/2075-4418

Access URL: https://doaj.org/article/0d9026e752be44c0a142887187e2e501

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