Bilaketaren emaitzak - Chris Ottolenghi
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Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency nork Étienne Sokal, Xavier Stéphenne, Chris Ottolenghi, Nawal Jazouli, Philippe Clapuyt, Florence Lacaille, Mustapha Najimi, Pascale de Lonlay, Françoise Smets
Argitaratua 2013Artigo -
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Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy nork Francesca Branzoli, Clément Pontoizeau, Lucien Tchara, Anna Luisa Di Stefano, Aurélie Kamoun, Dinesh K. Deelchand, Romain Valabrègue, Stéphane Lehericy, Marc Sanson, Chris Ottolenghi, Małgorzata Marjaǹska
Argitaratua 2019Artigo -
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Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults nork Albane Brodin-Sartorius, Marie-Josèphe Tête, Patrick Niaudet, Corinne Antignac, Geneviève Guest, Chris Ottolenghi, Marina Charbit, Dominique Moyse, Christophe Legendre, Philippe Lesavre, Pierre Cochat, Aude Servais
Argitaratua 2011Artigo -
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Foxl2functions in sex determination and histogenesis throughout mouse ovary development nork José Elías García‐Ortíz, Emanuele Pelosi, Shakib Omari, Timur Nedorezov, Yulan Piao, Jesse Karmazin, Manuela Uda, Antonio Cao, Steve W. Cole, Antonino Forabosco, David Schlessinger, Chris Ottolenghi
Argitaratua 2009Artigo -
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Highly specific determination of IDH status using edited in vivo magnetic resonance spectroscopy nork Francesca Branzoli, Anna Luisa Di Stefano, Laurent Capelle, Chris Ottolenghi, Romain Valabrègue, Dinesh K. Deelchand, Franck Bielle, Chiara Villa, Bertrand Baussart, Stéphane Lehericy, Marc Sanson, Małgorzata Marjaǹska
Argitaratua 2017Artigo -
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Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study nork Fabienne Charbit‐Henrion, Florence Lacaille, Patrick McKiernan, M Girard, Pascale de Lonlay, Vassili Valayannopoulos, Chris Ottolenghi, Anupam Chakrapani, M A Preece, Khalid Sharif, Christophe Chardot, Philippe Hubert, Laurent Dupic
Argitaratua 2015Artigo -
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Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet nork Vassili Valayannopoulos, Fanny Bajolle, Jean‐Baptiste Arnoux, Sandrine Dubois, N. Sannier, Christiane Baussan, François Petit, Philippe Labrune, Daniel Rabier, Chris Ottolenghi, Anne Vassault, Christine Broissand, Damien Bonnet, Pascale de Lonlay
Argitaratua 2011Artigo -
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A Metabolic Study of Huntington’s Disease nork Rajasree Nambron, Edina Silajdžić, Eirini Kalliolia, Chris Ottolenghi, Peter C. Hindmarsh, Nathan R. Hill, Seán J. Costelloe, Nicholas G. Martin, Vincenzo Positano, Hilary Watt, Chris Frost, Maria Björkqvist, Thomas T. Warner
Argitaratua 2016Artigo -
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DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death nork A. Bertrand, Laure Renou, Aurélie Papadopoulos, Maud Beuvin, Emmanuelle Lacène, Catherine Massart, Chris Ottolenghi, V. Decostre, Sophia Maron, Saskia Schlossarek, Marie‐Elodie Cattin, Lucie Carrier, Marie Malissen, Takuro Arimura, Gisèle Bonne
Argitaratua 2011Artigo -
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Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias nork Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean‐Baptiste Arnoux, Valérie Barbier, Florence Habarou, Isabelle Desguerre, Nathalie Boddaert, Jean‐Paul Bonnefont, Cécile Acquaviva, Jean‐François Benoist, Daniel Rabier, Guy Touati, Pascale de Lonlay
Argitaratua 2013Artigo -
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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency nork Fanny Mochel, Élodie Hainque, Domitille Gras, Isaac Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabrègue, Daisy Rinaldi, Sandrine Vuillaumier, Raphael Schiffmann, Chris Ottolenghi, Jean‐Yves Hogrel, Laurent Servais, Emmanuel Roze
Argitaratua 2015Artigo -
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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients nork Anaïs Brassier, Stéphanie Gobin, Jean Baptiste Arnoux, Vassili Valayannopoulos, Florence Habarou, Manoëlle Kossorotoff, Aude Servais, Valérie Barbier, Sandrine Dubois, Guy Touati, Robert Barouki, Fabrice Lesage, Laurent Dupic, Jean‐Paul Bonnefont, Chris Ottolenghi, Pascale de Lonlay
Argitaratua 2015Artigo -
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Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients nork Élise Lebigot, Pauline Gaignard, Imen Dorboz, Abdelhamid Slama, M. Rio, Pascale de Lonlay, Bénédicte Héron, Frédérique Sabourdy, Odile Boespflug‐Tanguy, Ariel R. Cardoso, Florence Habarou, Chris Ottolenghi, Patrice Thérond, Cécile Bouton, Marie‐Pierre Golinelli‐Cohen, Audrey Boutron
Argitaratua 2017Artigo -
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Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation nork Anthony Drecourt, Joël Babdor, Michaël Dussiot, Floriane Petit, Nicolas Goudin, Meriem Garfa-Traoré, Florence Habarou, Christine Bôle‐Feysot, Patrick Nitschké, Chris Ottolenghi, Metodi D. Metodiev, Valérie Serre, I. Desguerre, Nathalie Boddaert, Olivier Hermine, Arnold Münnich, Agnès Rötig
Argitaratua 2018Artigo -
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Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase nork Yohan Sorèze, Audrey Boutron, Florence Habarou, Christine Barnérias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bôle‐Feysot, Patrick Nitschké, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay
Argitaratua 2013Artigo -
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Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism nork Charlotte Lussey‐Lepoutre, Kate E.R. Hollinshead, Christian Ludwig, Mélanie Menara, Aurélie Morin, Luis-Jaime Castro-Vega, Seth J. Parker, Maxime Janin, Cosimo Martinelli, Chris Ottolenghi, Christian M. Metallo, Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Daniel A. Tennant
Argitaratua 2015Artigo -
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SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma nork Éric Letouzé, Cosimo Martinelli, Céline Loriot, Nelly Burnichon, Nasséra Abermil, Chris Ottolenghi, Maxime Janin, Mélanie Menara, An Thach Nguyen, Paule Bénit, Alexandre Buffet, Charles Marcaillou, Jérôme Bertherat, Laurence Amar, Pierre Rustin, Aurélien de Reyniès, Anne‐Paule Gimenez‐Roqueplo, Judith Favier
Argitaratua 2013Artigo
Bilaketa egiteko lanabesak:
Antzeko gaiak
Biology
Medicine
Internal medicine
Gene
Genetics
Biochemistry
Cell biology
Endocrinology
Enzyme
Cancer research
Mutation
Chemistry
Pediatrics
Gastroenterology
Metabolism
Phenotype
Amino acid
Cysteine
Disease
Pathology
Physics
Arginine
Cell
Germline mutation
Mitochondrion
Molecular biology
Ornithine
Ovary
Paraganglioma
SDHB