Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Anne‐Sophie Lebre"'
Autor:
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
Abstract Objective The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitocho
Externí odkaz:
https://doaj.org/article/e4307533a35a473a9b33fb23706ccfa7
Autor:
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, Anne-Sophie Lebre
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1815 (2022)
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features ca
Externí odkaz:
https://doaj.org/article/a6bf93b9a5034f0c9761191d3399a9b9
Autor:
Junko Takahashi-Fujigasaki, Tilo Breidert, Hiroto Fujigasaki, Charles Duyckaerts, Jacques H. Camonis, Alexis Brice, Anne-Sophie Lebre
Publikováno v:
Neurobiology of Disease, Vol 41, Iss 1, Pp 33-42 (2011)
In spinocerebellar ataxia-7 (SCA7), a polyglutamine (polyQ) expansion in the ataxin-7 protein leads to the formation of neuronal intranuclear inclusions (NIIs) and neurodegeneration. In this study, amyloid precursor-like protein 2 (APLP2) was identif
Externí odkaz:
https://doaj.org/article/d7ad151974914a9591b2fb9d1ea3a3db
Autor:
Junko Takahashi, Hiroto Fujigasaki, Kiyoshi Iwabuchi, Amalia C Bruni, Toshiki Uchihara, Khalid H El Hachimi, Giovanni Stevanin, Alexandra Dürr, Anne-Sophie Lebre, Yvon Trottier, Hugues de Thé, Junichi Tanaka, Jean-Jacques Hauw, Charles Duyckaerts, Alexis Brice
Publikováno v:
Neurobiology of Disease, Vol 13, Iss 3, Pp 230-237 (2003)
In polyglutamine diseases, accumulation in the nucleus of mutant proteins induces the formation of neuronal intranuclear inclusions (NIIs). The nucleus is compartmentalized into structural and functional domains, which are involved in NII formation.
Externí odkaz:
https://doaj.org/article/06481b26a6f34658a4f14a15f16966d2
Autor:
Alice Doreille, Yannis Lombardi, Marine Dancer, Radoslava Lamri, Quentin Testard, Xavier Vanhoye, Anne-Sophie Lebre, Hugo Garcia, Cédric Rafat, Nacera Ouali, Yosu Luque, Hassan Izzedine, Emmanuel Esteve, Alexandre Cez, Camille Petit-Hoang, Hélène François, Armance Marchal, Emmanuel Letavernier, Véronique Frémeaux-Bacchi, Jean-Jacques Boffa, Eric Rondeau, Laure Raymond, Laurent Mesnard
Publikováno v:
Kidney International Reports. 8:596-605
Autor:
David Geneviève, Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz-Pallares, Xtraordinaire Association, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Arpin Stéphanie, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier-Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco-Fenzy, William Dufour, Benjamin Durand, Camille ENGEL, Laurence Faivre, Fanny Ferroul, Mélanie FRADIN, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gérard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Delphine Héron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalova, Audrey Putoux, Marlène RIO, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran-Mau-Them, Gabriele Trimarchi, Marie Vincent, Marketa Vlckova, Dagmar Wieczorek, Marjolaine Willems, kevin yauy, Michaela Zelinová, Alban Ziegler, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These two series include several symptoms in common, with fairly similar distribution, which suggests that careg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51bda5fc9b2ce8d9658317152dd59e70
https://doi.org/10.21203/rs.3.rs-2760508/v1
https://doi.org/10.21203/rs.3.rs-2760508/v1
Autor:
Olivia Beaudoux, Jean-Baptiste Oudart, Laurence Riffaud, Laetitia Visseaux, Aude Marchal, Anne-Sophie Lebre, Florent Grange
Publikováno v:
Molecular Diagnosis & Therapy. 26:189-202
Autor:
Martine Doco Fenzy, Anne-Sophie Lebre, Olivia Beaudoux, Céline Poirsier, Eric Canivet, Marta Spodenkiewicz, Charlotte Colosio
Publikováno v:
American Journal of Medical Genetics Part A. 185:937-944
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad of anorectal, thumb, and ear malformations. Essentially described in children, adult case r
Autor:
Aidin, Foroutan, Sadegheh, Haghshenas, Pratibha, Bhai, Michael A, Levy, Jennifer, Kerkhof, Haley, McConkey, Marcello, Niceta, Andrea, Ciolfi, Lucia, Pedace, Evelina, Miele, David, Genevieve, Solveig, Heide, Mariëlle, Alders, Giuseppe, Zampino, Giuseppe, Merla, Mélanie, Fradin, Eric, Bieth, Dominique, Bonneau, Klaus, Dieterich, Patricia, Fergelot, Elise, Schaefer, Laurence, Faivre, Antonio, Vitobello, Silvia, Maitz, Rita, Fischetto, Cristina, Gervasini, Maria, Piccione, Ingrid, van de Laar, Marco, Tartaglia, Bekim, Sadikovic, Anne-Sophie, Lebre
Publikováno v:
International journal of molecular sciences. 23(3)
Wiedemann-Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the
Autor:
Véronique Paquis-Flucklinger, Bernard Vialettes, Claude Jardel, Anne-Sophie Lebre, Anne-Gaëlle Decoux-Poullot, Nicolas Chevalier, Sylvie Bannwarth, Vincent Procaccio
Publikováno v:
Annales d'Endocrinologie. 81:68-77
Objective While the most frequent mutation responsible for mitochondrial diabetes is the point mutation m.3243 A>G of mitochondrial DNA (mtDNA), few data are available about the role of rare mtDNA mutations in the pathophysiology of diabetes. The mai