Neural Tube Defects, Folic Acid and Methylation

por Imbard, Apolline, Benoist, Jean-François, Blom, Henk J.
Publicado 2013

Mouse Studies to Shape Clinical Trials for Mitochondrial Diseases: High Fat Diet in Harlequin Mice

por Schiff, Manuel, Bénit, Paule, El-Khoury, Riyad, Schlemmer, Dimitri, Benoist, Jean-François, Rustin, Pierre
Publicado 2011

Liver and brain differential expression of one-carbon metabolism genes during ontogenesis

por Imbard, Apolline, Schwendimann, Leslie, Lebon, Sophie, Gressens, Pierre, Blom, Henk J., Benoist, Jean-François
Publicado 2021

Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection

por Rafat, Cédric, Doreille, Alice, Dancer, Marine, Werion, Alexis, Benoist, Jean-François, Raymond, Laure, Mesnard, Laurent
Publicado 2023

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

por Bower, Alexandra, Imbard, Apolline, Benoist, Jean-François, Pichard, Samia, Rigal, Odile, Baud, Olivier, Schiff, Manuel
Publicado 2019

ShiF acts as an auxiliary factor of aerobactin secretion in meningitis Escherichia coli strain S88

por Genuini, Mathieu, Bidet, Philippe, Benoist, Jean-François, Schlemmer, Dimitri, Lemaitre, Chloé, Birgy, André, Bonacorsi, Stéphane
Publicado 2019

Pathology Influences Blood Pressure Change following Vagal Stimulation in an Animal Intubation Model

por Jones, Peter, Guillaud, Laurent, Desbois, Christophe, Benoist, Jean-Francois, Combrisson, Helene, Dauger, Stephane, Peters, Mark J.
Publicado 2013

Diagnostic approach in adult-onset neurometabolic diseases

por Fernández-Eulate, Gorka, Carreau, Christophe, Benoist, Jean-François, Lamari, Foudil, Rucheton, Benoit, Shor, Natalia, Nadjar, Yann
Publicado 2022

Non-ketogenic combination of nutritional strategies provides robust protection against seizures

por Dallérac, Glenn, Moulard, Julien, Benoist, Jean-François, Rouach, Stefan, Auvin, Stéphane, Guilbot, Angèle, Lenoir, Loïc, Rouach, Nathalie
Publicado 2017

Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts

por Aires, Virginie, Delmas, Dominique, Le Bachelier, Carole, Latruffe, Norbert, Schlemmer, Dimitri, Benoist, Jean-François, Djouadi, Fatima, Bastin, Jean
Publicado 2014

Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?

por Schiff, Manuel, Benoist, Jean-François, Aïssaoui, Sofiane, Boepsflug-Tanguy, Odile, Mouren, Marie-Christine, de Baulny, Hélène Ogier, Delorme, Richard
Publicado 2011

Correction: Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?

por Schiff, Manuel, Benoist, Jean-François, Aïssaoui, Sofiane, Boepsflug-Tanguy, Odile, Mouren, Marie-Christine, de Baulny, Hélène Ogier, Delorme, Richard
Publicado 2011

Coenzyme Q(10) defects may be associated with a deficiency of Q(10)-independent mitochondrial respiratory chain complexes

por Fragaki, Konstantina, Chaussenot, Annabelle, Benoist, Jean-François, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Rouzier, Cécile, Cochaud, Charlotte, Paquis-Flucklinger, Véronique
Publicado 2016

Translocator Protein-Mediated Stabilization of Mitochondrial Architecture during Inflammation Stress in Colonic Cells

por Issop, Leeyah, Ostuni, Mariano A., Lee, Sunghoon, Laforge, Mireille, Péranzi, Gabriel, Rustin, Pierre, Benoist, Jean-François, Estaquier, Jérome, Papadopoulos, Vassilios, Lacapère, Jean-Jacques
Publicado 2016

New spastic paraplegia phenotype associated to mutation of NFU1

por Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean François, Ogier, Heléne, Boespflug-Tanguy, Odile
Publicado 2015

High homocysteine induces betaine depletion

por Imbard, Apolline, Benoist, Jean-François, Esse, Ruben, Gupta, Sapna, Lebon, Sophie, de Vriese, An S, de Baulny, Helene Ogier, Kruger, Warren, Schiff, Manuel, Blom, Henk J.
Publicado 2015

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

por Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Publicado 2016

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

por Abily-Donval, Lenaig, Torre, Stéphanie, Samson, Aurélie, Sudrié-Arnaud, Bénédicte, Acquaviva, Cécile, Guerrot, Anne-Marie, Benoist, Jean-François, Marret, Stéphane, Bekri, Soumeya, Tebani, Abdellah
Publicado 2017

Angelman syndrome and isovaleric acidemia: What is the link?

por Lambrecht, Alix, Pichard, Samia, Maurey, Hélène, Segarra, Nuria Garcia, Drunat, Séverine, Acquaviva-Bourdain, Cécile, Passemard, Sandrine, Benoist, Jean-François, Fauret-Amsellem, Anne-Laure, Schiff, Manuel
Publicado 2015

Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy

por Lemoine, Mathilde, François, Arnaud, Grangé, Steven, Rabant, Marion, Châtelet, Valérie, Cassiman, David, Cornec-Le Gall, Emilie, Ambrosetti, Damien, Deschênes, Georges, Benoist, Jean-François, Guerrot, Dominique
Publicado 2018