Zobrazeno 1 - 10
of 119
pro vyhledávání: '"Nathalie Clement"'
Autor:
Manuela Corti, Barry J. Byrne, Dominic J. Gessler, Grace Thompson, Samantha Norman, Jenna Lammers, Kirsten E. Coleman, Cristina Liberati, Melissa E. Elder, Maria L. Escolar, Ibrahim S. Tuna, Clementina Mesaros, Gary I. Kleiner, Deborah S. Barbouth, Heather L. Gray-Edwards, Nathalie Clement, Brian D. Cleaver, Guangping Gao
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 303-314 (2023)
Gene replacement therapy is a rational therapeutic strategy and clinical intervention for neurodegenerative disorders like Canavan disease, a leukodystrophy caused by biallelic mutations in the aspartoacylase (ASPA) gene. We aimed to investigate whet
Externí odkaz:
https://doaj.org/article/9c3eeeaf5a4542ada6da05e007811039
Autor:
Claude Flamand, Christelle Alves Sarmento, Antoine Enfissi, Sarah Bailly, Emmanuel Beillard, Mélanie Gaillet, Céline Michaud, Véronique Servas, Nathalie Clement, Anaïs Perilhou, Thierry Carage, Didier Musso, Jean-François Carod, Stéphanie Eustache, Céline Tourbillon, Elodie Boizon, Samantha James, Félix Djossou, Henrik Salje, Simon Cauchemez, Dominique Rousset
Publikováno v:
PLoS Neglected Tropical Diseases, Vol 15, Iss 11, p e0009945 (2021)
BackgroundWhile Latin America has been heavily affected by the pandemic, only a few seroprevalence studies have been conducted there during the first epidemic wave in the first half of 2020.Methodology/principal findingsA cross-sectional survey was p
Externí odkaz:
https://doaj.org/article/5843d179755d4a369583c6340f4504e3
Autor:
Darin J Falk, Meghan S Soustek, Adrian Gary Todd, Cathryn S Mah, Denise A Cloutier, Jeffry S Kelley, Nathalie Clement, David D Fuller, Barry J Byrne
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 2, Iss , Pp - (2015)
Pompe disease is an autosomal recessive genetic disorder characterized by a deficiency of the enzyme responsible for degradation of lysosomal glycogen (acid α-glucosidase (GAA)). Cardiac dysfunction and respiratory muscle weakness are primary feat
Externí odkaz:
https://doaj.org/article/442ce2508cf241e9bda6b41c905115b6
Autor:
Pauline Chaste, Nathalie Clement, Oriane Mercati, Jean-Luc Guillaume, Richard Delorme, Hany Goubran Botros, Cécile Pagan, Samuel Périvier, Isabelle Scheid, Gudrun Nygren, Henrik Anckarsäter, Maria Rastam, Ola Ståhlberg, Carina Gillberg, Emilie Serrano, Nathalie Lemière, Jean Marie Launay, Marie Christine Mouren-Simeoni, Marion Leboyer, Christopher Gillberg, Ralf Jockers, Thomas Bourgeron
Publikováno v:
PLoS ONE, Vol 5, Iss 7, p e11495 (2010)
Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of the melatonin pathway has been reported in circadian disorders, diabetes and autism spectrum disorders (ASD). However, very little is known about th
Externí odkaz:
https://doaj.org/article/db5bfbc334f143c8acb3c470126be6b5
Autor:
Gudrun Schleiermacher, Valérie Combaret, Olivier Delattre, Alain Puisieux, Jean Michon, Dominique Valteau-Couanet, Frédéric Millot, Marion Gambart, Estelle Thebaud, Anne Sophie Defachelles, Dominique Plantaz, Carole Coze, Cécile Faure-Conter, Nadège Corradini, Michel Peuchmaur, Virginie Bernard, Toby Hocking, Cécile Reyes, Marjorie Carrere, Stéphanie Bréjon, Isabelle Iacono, Nathalie Clement, Angela Bellini, Eve Lapouble, Gaelle Pierron, David Gentien, Wilfrid Richer, Leo Colmet Daage, Sandrine Boyault, Mathieu Chicard
Patient Information
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c3f3984553586e3532e40f37da12e7a
https://doi.org/10.1158/1078-0432.22462176.v1
https://doi.org/10.1158/1078-0432.22462176.v1
Autor:
Gudrun Schleiermacher, Valérie Combaret, Olivier Delattre, Alain Puisieux, Jean Michon, Dominique Valteau-Couanet, Frédéric Millot, Marion Gambart, Estelle Thebaud, Anne Sophie Defachelles, Dominique Plantaz, Carole Coze, Cécile Faure-Conter, Nadège Corradini, Michel Peuchmaur, Virginie Bernard, Toby Hocking, Cécile Reyes, Marjorie Carrere, Stéphanie Bréjon, Isabelle Iacono, Nathalie Clement, Angela Bellini, Eve Lapouble, Gaelle Pierron, David Gentien, Wilfrid Richer, Leo Colmet Daage, Sandrine Boyault, Mathieu Chicard
Tumour aCGH-specific and cfDNA- specific breakpoints
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bad50b2bf771fb33a51ec8770eb94214
https://doi.org/10.1158/1078-0432.22462173.v1
https://doi.org/10.1158/1078-0432.22462173.v1
Autor:
Gudrun Schleiermacher, Valérie Combaret, Olivier Delattre, Alain Puisieux, Jean Michon, Dominique Valteau-Couanet, Frédéric Millot, Marion Gambart, Estelle Thebaud, Anne Sophie Defachelles, Dominique Plantaz, Carole Coze, Cécile Faure-Conter, Nadège Corradini, Michel Peuchmaur, Virginie Bernard, Toby Hocking, Cécile Reyes, Marjorie Carrere, Stéphanie Bréjon, Isabelle Iacono, Nathalie Clement, Angela Bellini, Eve Lapouble, Gaelle Pierron, David Gentien, Wilfrid Richer, Leo Colmet Daage, Sandrine Boyault, Mathieu Chicard
Purpose: The tumor genomic copy number profile is of prognostic significance in neuroblastoma patients. We have studied the genomic copy number profile of cell-free DNA (cfDNA) and compared this with primary tumor arrayCGH (aCGH) at diagnosis.Experim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336cc148e30998fa92ab8f013bf32afb
https://doi.org/10.1158/1078-0432.c.6525027.v1
https://doi.org/10.1158/1078-0432.c.6525027.v1
Autor:
Gudrun Schleiermacher, Olivier Delattre, Isabelle Janoueix-Lerosey, Jean Michon, Dominique Valteau-Couanet, Anne Auvrignon, Sophie Taque, Nimrod Buchbinder, Christophe Bergeron, Anne Sophie Defachelles, Pascal Chastagner, Estelle Thebaud, Herve Rubie, Nathalie Clement, Eve Lapouble, Valérie Combaret, Gaelle Pierron, Thomas Rio Frio, Quentin Leroy, Virginie Bernard, Angela Bellini
Supplementary Table 2. Primer sequences used for the amplification of ALK regions of interested in the first PCR-step
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1151c17ca74cbbca67c0d0d21b7b860f
https://doi.org/10.1158/1078-0432.22459112.v1
https://doi.org/10.1158/1078-0432.22459112.v1
Autor:
Gudrun Schleiermacher, Olivier Delattre, Valérie Combaret, Jean Michon, Dominique Valteau-Couanet, Anne Sophie Defachelles, Nadège Corradini, Michel Peuchmaur, Isabelle Janoueix-Lerosey, Eve Lapouble, Gaëlle Pierron, Paul Deveau, Angela Bellini, Sylvain Baulande, Virginie Bernard, Mylène Bohec, Adrien Danzon, Nathalie Clement, Leo Colmet-Daage, Mathieu Chicard
Table S3: SNVs detected in primary solid Tumor at diagnosis (n=19), Relapse Tumor (n=4 previously published cases), cfDNA at diagnosis (n=19) and cfDNA with relapse (n=9) with WES.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7303387f049319e5c2e4b3e680d83ade
https://doi.org/10.1158/1078-0432.22464063.v1
https://doi.org/10.1158/1078-0432.22464063.v1
Autor:
Gudrun Schleiermacher, Olivier Delattre, Isabelle Janoueix-Lerosey, Jean Michon, Dominique Valteau-Couanet, Anne Auvrignon, Sophie Taque, Nimrod Buchbinder, Christophe Bergeron, Anne Sophie Defachelles, Pascal Chastagner, Estelle Thebaud, Herve Rubie, Nathalie Clement, Eve Lapouble, Valérie Combaret, Gaelle Pierron, Thomas Rio Frio, Quentin Leroy, Virginie Bernard, Angela Bellini
Supplementary Table 1. Clinical and tumor genetic data of studied cohort of 276 NB patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c44f580beda7c4ee17a879bf18023662
https://doi.org/10.1158/1078-0432.22459115.v1
https://doi.org/10.1158/1078-0432.22459115.v1