Emmanuel Jacquemin

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 15

Top Topics

Replacement Therapy

Intellectual Disability

Top Venues

Liver international : official journal of the International Association for the Study of the Liver

Journal of pediatric gastroenterology and nutrition

Orphanet journal of rare diseases

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Alice Thébaut, Madeleine Aumar, Antoine Gardin, Marion Almes, Anne Davit-Spraul, Emmanuel Jacquemin
Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations. Journal of pediatric gastroenterology and nutrition 78 (5) (2024)
Alice Thébaut, Madeleine Aumar, Antoine Gardin, Marion Almes, Anne Davit-Spraul, Emmanuel Jacquemin
Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations. Journal of pediatric gastroenterology and nutrition (2024)
Alice Thébaut, Madeleine Aumar, Antoine Gardin, Marion Almes, Anne Davit-Spraul, Emmanuel Jacquemin
Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations. Journal of pediatric gastroenterology and nutrition 78 (5) (2024)
Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Antoine Gardin, Léa Gaigne, Aude Magérus, Frédéric Rieux-Laucat, Emmanuel Jacquemin
PLCG2 Mutation in a Patient Presenting with Type 2 Autoimmune Hepatitis. Journal of clinical and translational hepatology 12 (7) (2024)
Antoine Gardin, Léa Gaigne, Aude Magérus, Frédéric Rieux-Laucat, Emmanuel Jacquemin
PLCG2 Mutation in a Patient Presenting with Type 2 Autoimmune Hepatitis. Journal of clinical and translational hepatology 12 (7) (2024)
Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fischler, Emmanuel Gonzales, Anne Davit-Spraul, Sophie Laplanche, Emmanuel Jacquemin
∆ 4 -3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid. Orphanet journal of rare diseases 18 (1) (2023)
Amel Ben Saad, Virginie Vauthier, Martine Lapalus, Elodie Mareux, Evangéline Bennana, Anne-Marie Durand-Schneider, Alix Bruneau, Jean-Louis Delaunay, Emmanuel M Gonzales, Chantal Housset, Tounsia Aït-Slimane, François Guillonneau, Emmanuel Jacquemin, Thomas Falguières
RAB10 Interacts with ABCB4 and Regulates Its Intracellular Traffic. International journal of molecular sciences 22 (13) (2021)
Amel Ben Saad, Virginie Vauthier, Ágota Tóth, Angelika Janaszkiewicz, Anne-Marie Durand-Schneider, Alix Bruneau, Jean-Louis Delaunay, Martine Lapalus, Elodie Mareux, Isabelle Garcin, Emmanuel M Gonzales, Chantal Housset, Tounsia Aït-Slimane, Emmanuel Jacquemin, Florent Di Meo, Thomas Falguières
Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants. Liver international : official journal of the International Association for the Study of the Liver 41 (6) (2021)
Elodie Mareux, Martine Lapalus, Amel Ben-Saad, Isabelle Callebaut, Thomas Falguières, Emmanuel Gonzales, Emmanuel Jacquemin
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy. Orphanet journal of rare diseases 16 (1) (2021)
Elodie Mareux, Martine Lapalus, Rachida Amzal, Marion Almes, Tounsia Aït-Slimane, Jean-Louis Delaunay, Pauline Adnot, Mauricette Collado-Hilly, Anne Davit-Spraul, Thomas Falguières, Isabelle Callebaut, Emmanuel M Gonzales, Emmanuel Jacquemin
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency. Liver international : official journal of the International Association for the Study of the Liver 40 (8) (2020)
Mathias Ruiz, Florence Lacaille, Julien Berthiller, Philippe Joly, Jérôme Dumortier, Madeleine Aumar, Laure Bridoux-Henno, Emmanuel Jacquemin, Thierry Lamireau, Pierre Broué, Christine Rivet, Abdelouahed Belmalih, Lioara Restier, Colette Chapuis-Cellier, Marion Bouchecareilh, Alain Lachaux, null null
Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort. Liver international : official journal of the International Association for the Study of the Liver 39 (6) (2019)
Emmanuel Gonzales, Lorenza Matarazzo, Stéphanie Franchi-Abella, Alain Dabadie, Joseph Cohen, Dalila Habes, Sophie Hillaire, Catherine Guettier, Anne-Marie Taburet, Anne Myara, Emmanuel Jacquemin
Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood. Orphanet journal of rare diseases 13 (1) (2018)
Claude Besmond, Dominique Valla, Laurence Hubert, Karine Poirier, Brigitte Grosse, Catherine Guettier, Olivier Bernard, Emmanuel Gonzales, Emmanuel Jacquemin
Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy. Liver international : official journal of the International Association for the Study of the Liver 38 (2) (2017)