Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Médéric Jeanne"'
Autor:
Maike F. Dohrn, Guney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, Matt C. Danzi, Stephanie A. Bivona, Paul Gueguen, Mohammad F. Zafeer, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 1075-1079 (2024)
Abstract ATP1A1 encodes a sodium‐potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children
Externí odkaz:
https://doaj.org/article/621c5d64a86f4fbbbe35914e2ccaad1f
Publikováno v:
Acta Dermato-Venereologica, Vol 104 (2024)
Abstract is missing (Quiz)
Externí odkaz:
https://doaj.org/article/d9e65435aac440f8a812f34168fd75ab
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
The dihydropyrimidinase-like (DPYSL) proteins, also designated as the collapsin response mediators (CRMP) proteins, constitute a family of five cytosolic phosphoproteins abundantly expressed in the developing nervous system but down-regulated in the
Externí odkaz:
https://doaj.org/article/a44965208ff642b6b73bdfe0bfbb9392
Autor:
Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%–10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first French nat
Externí odkaz:
https://doaj.org/article/cfb986b66f2e4ab7a0d4424ced7c5602
Autor:
Shanez Haouari, Patrick Vourc’h, Médéric Jeanne, Sylviane Marouillat, Charlotte Veyrat-Durebex, Débora Lanznaster, Frédéric Laumonnier, Philippe Corcia, Hélène Blasco, Christian R. Andres
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 7, p 3882 (2022)
The ubiquitin pathway regulates the function of many proteins and controls cellular protein homeostasis. In recent years, it has attracted great interest in neurodevelopmental and neurodegenerative diseases. Here, we have presented the first review o
Externí odkaz:
https://doaj.org/article/2fda9206c9d648e9b1d101cdd9ef8477
Autor:
Yuji Nakamura, Issei S. Shimada, Reza Maroofian, Henry Houlden, Micol Falabella, Masanori Fujimoto, Emi Sato, Hiroshi Takase, Shiho Aoki, Akihiko Miyauchi, Eriko Koshimizu, Satoko Miyatake, Yuko Arioka, Mizuki Honda, Takayoshi Higashi, Fuyuki Miya, Yukimune Okubo, Isamu Ogawa, Annarita Scardamaglia, Mohammad Miryounesi, Sahar Alijanpour, Farzad Ahmadabadi, Peter Herkenrath, Hormos Salimi Dafsari, Clara Velmans, Mohammed Balwi, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Médéric Jeanne, Antoine Civit, Maha S. Zaki, Hossein Darvish, Somayeh Bakhtiari, Michael Kruer, Christopher J Carroll, Ehsan Ghayoor Karimiani, Rozhgar A Khailany, Talib Adil Abdulqadir, Mehmet Ozaslan, Peter Bauer, Giovanni Zifarelli, Tahere Seifi, Mina Zamani, Chadi Al Alam, Robert D S Pitceathly, Kazuhiro Haginoya, Tamihide Matsunaga, Hitoshi Osaka, Naomichi Matsumoto, Norio Ozaki, Yasuyuki Ohkawa, Shinya Oki, Tatsuhiko Tsunoda, Yoshitaka Taketomi, Makoto Murakami, Yoichi Kato, Shinji Saitoh
PNPLA8, one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. However, little is known about its role in brain development. Here, we report 12 indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3166c6dd5bfac2bccc9f569d1910b079
https://doi.org/10.1101/2023.04.26.23288947
https://doi.org/10.1101/2023.04.26.23288947
Autor:
Robert Olaso, Adeline Prost, Anne-Sophie Denommé-Pichon, Magali Gorce, Anne Boland, Mélanie Fradin, Magalie Barth, Mathilde Nizon, Antonio Vitobello, Dominique Bonneau, Bertrand Isidor, Christel Thauvin-Robinet, Frédéric Tran Mau-Them, Victor Couturier, Caroline Racine, Céline Besse, Marie Vincent, Bertrand Fin, Yline Capri, Alban Ziegler, Ange-Line Bruel, Yannis Duffourd, Christophe Philippe, P. Callier, Sébastien Moutton, Aurore Garde, Médéric Jeanne, Annick Toutain, Sophie Nambot, Delphine Bacq-Daian, Charlotte Poë, Emilie Tisserant, Aurélien Juven, Julien Van-Gils, Tiffany Busa, Laurent Pasquier, Sabine Sigaudy, Arthur Sorlin, Thibaud Jouan, Philippine Garret, Corinne Chantegret, Julian Delanne, Cyril Flamant, Alinoë Lavillaureix, Clement Prouteau, Paul Rollier, Laurence Faivre, Jean-François Deleuze
Publikováno v:
Eur J Hum Genet
Obtaining a rapid etiological diagnosis for infants with early-onset rare diseases remains a major challenge. These diseases often have a severe presentation and unknown prognosis, and the genetic causes are very heterogeneous. In a French hospital n
Publikováno v:
The Journal of rheumatology. 49(11)
Melorheostosis, also known as Leri-Joanny disease,1 is a very rare skeletal dysplasia manifesting as regions of bone sclerosis with a characteristic flowing candle wax appearance in the classical form of the disease. In addition to this classical pat
Autor:
Damien Haye, Sandrine Vonwill, Rolph Pfundt, Annick Toutain, Stephan C. Collins, Joost Kummeling, Sylviane Marouillat, Marie-Pierre Moizard, Médéric Jeanne, Dévina C. Ung, Binnaz Yalcin, Frédéric Laumonnier, Nora Chelloug, Tjitske Kleefstra, Marie-Laure Vuillaume, Valerie E. Vancollie, Christel Wagner
Publikováno v:
Human Genetics, 140, 6, pp. 885-896
Human Genetics, 140, 885-896
Human Genetics, 140, 885-896
Item does not contain fulltext The 22q11.2 deletion syndrome (22q11DS) is associated with a wide spectrum of cognitive and psychiatric symptoms. Despite the considerable work performed over the past 20 years, the genetic etiology of the neurodevelopm
Autor:
Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri Ramsey, Vinodh Narayanan, Julie R Jones, Eloise J Prijoles, Wendy G Mitchell, Jillian R Ozmore, Kali Juliette, Erin Torti, Elizabeth A Normand, Leslie Granger, Andrea K Petersen, Margaret G Au, Juliann P Matheny, Chanika Phornphutkul, Mary-Kathryn Chambers, Joaquín-Alejandro Fernández-Ramos, Eduardo López-Laso, Michael C Kruer, Somayeh Bakhtiari, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Davide Mei, Tiziana Pisano, Renzo Guerrini, Raymond J Louie, Anna Childers, David B Everman, Betrand Isidor, Séverine Audebert-Bellanger, Sylvie Odent, Dominique Bonneau, Brigitte Gilbert-Dussardier, Richard Redon, Stéphane Bézieau, Frédéric Laumonnier, Esther T Stoeckli, Annick Toutain, Marie-Laure Vuillaume
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Hum Mol Genet
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Hum Mol Genet
Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different centers. Whereas, until now, SEMA6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d974822a75fd96597543ff49dc52620f
https://hdl.handle.net/10807/232271
https://hdl.handle.net/10807/232271