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Patrick Vourc'h

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Publications

Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1

Shanez Haouari , Christian Robert Andres , Debora Lanznaster , Sylviane Marouillat , Céline Brulard
International Journal of Molecular Sciences, 2023, 24 (2), pp.1268. ⟨10.3390/ijms24021268⟩
Article dans une revue hal-04541653v1

Reply to the letter from Gazulla et al.

Philippe Corcia , Christian Lunetta , Philippe Couratier , Patrick Vourc'H , Marta Gromicho
European Journal of Neurology, 2022, 29 (1), ⟨10.1111/ene.15134⟩
Article dans une revue hal-03521270v1
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Taking Advantages of Blood–Brain or Spinal Cord Barrier Alterations or Restoring Them to Optimize Therapy in ALS?

Hugo Alarcan , Yara Al Ojaimi , Debora Lanznaster , Jean-Michel Escoffre , Philippe Corcia
Journal of Personalized Medicine, 2022, 12, pp.1071. ⟨10.3390/jpm12071071⟩
Article dans une revue inserm-03723283v1
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Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Ahmad Al Khleifat , Alfredo Iacoangeli , Joke van Vugt , Harry Bowles , Matthieu Moisse
npj Genomic Medicine, 2022, 7 (1), pp.8. ⟨10.1038/s41525-021-00267-9⟩
Article dans une revue hal-03939759v1
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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Paul Hop , Ramona Zwamborn , Eilis Hannon , Gemma Shireby , Marta Nabais
Science Translational Medicine, 2022, 14 (633), pp.eabj0264. ⟨10.1126/scitranslmed.abj0264⟩
Article dans une revue hal-03939741v1

Effect of familial clustering in the genetic screening of 235 French ALS families

Philippe Corcia , William Camu , Celine Brulard , Sylviane Marouillat , Philippe Couratier
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (5), pp.479-484. ⟨10.1136/jnnp-2020-325064⟩
Article dans une revue hal-03369962v1
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Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome

Patrick Vourc’h , François Wurmser , Céline Brulard , Kevin Mouzat , Sandra Kassem
Neurobiology of Aging, 2021, 97, pp.148.e1 - 148.e7. ⟨10.1016/j.neurobiolaging.2020.07.027⟩
Article dans une revue hal-03493473v1
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Targeting synaptic dysfunction using SINEUP ncRNA enhancer in neurodegenerative diseases

Kathia Zaleta-Rivera , Stefano Espinoza , Roberto F. Delgadillo , Emmanuel Astoul , Sylviane Marouillat
Le Studium Multidisciplinary Journal, 2021, 5, pp.62-69. ⟨10.34846/le-studium.214.02.fr.10-2021⟩
Article dans une revue hal-04198506v1
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The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

Matthieu Moisse , Ramona Zwamborn , Joke Vugt , Rick Spek , Wouter Rheenen
Annals of Neurology, 2021, 89 (4), pp.686-697. ⟨10.1002/ana.26009⟩
Article dans une revue hal-03350820v1
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Impact of a frequent nearsplice SOD1 variant in Amyotrophic Lateral Sclerosis: optimizing SOD1 genetic screening for gene therapy opportunities

François Muratet , Elisa Teyssou , Aude Chiot , Séverine Boillée , Christian S Lobsiger
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (9), pp.942-949. ⟨10.1136/jnnp-2020-325921⟩
Article dans une revue hal-03353407v1

The future of ALS might move towards Genetic Therapy

Philippe Corcia , Philippe Couratier , Patrick Vourc’h
Revue Neurologique, 2021, 177 (6), pp.613-614. ⟨10.1016/j.neurol.2021.01.007⟩
Article dans une revue hal-03332250v1

Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum

Philippe Corcia , Christian Lunetta , Philippe Couratier , Patrick Vourc'H , Marta Gromicho
European Journal of Neurology, 2021, 28 (8), pp.2780-2783. ⟨10.1111/ene.14960⟩
Article dans une revue hal-03390641v1
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen , Rick van der Spek , Mark Bakker , Joke van Vugt , Paul Hop
Nature Genetics, 2021, 53 (12), pp.1636-1648. ⟨10.1038/s41588-021-00973-1⟩
Article dans une revue hal-03939733v1

Advances in disease-modifying pharmacotherapies for the treatment of amyotrophic lateral sclerosis

Rudolf Hergesheimer , Débora Lanznaster , Patrick Vourc’h , Christian Andres , Se Bakkouche
Expert Opinion on Pharmacotherapy, 2020, 21 (9), pp.1103-1110. ⟨10.1080/14656566.2020.1746270⟩
Article dans une revue hal-02869854v1
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The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Rudolf C Hergesheimer , Anna A Chami , Denis Reis de Assis , Patrick Vourc’h , Christian Andres
Brain - A Journal of Neurology , 2019, 142 (5), pp.1176-1194. ⟨10.1093/brain/awz078⟩
Article dans une revue hal-02612470v1

Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms

Charlotte Veyrat-Durebex , Céline Bris , Philippe Codron , Cinzia Bocca , Stephanie Chupin
Molecular Neurobiology, 2019
Article dans une revue hal-02032108v1

Ferritin and LDL-cholesterol as biomarkers of fat-free mass loss in ALS

Pierre Jésus , Hélène Blasco , Franck Patin , Salah Eddine Bakkouche , Stéphane Beltran
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2019, 20 (5-6), pp.441-444. ⟨10.1080/21678421.2019.1597126⟩
Article dans une revue hal-02363239v1
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The Relevancy of Data Regarding the Metabolism of Iron to Our Understanding of Deregulated Mechanisms in ALS; Hypotheses and Pitfalls

Camille Petillon , Rudolf Hergesheimer , Hervé Puy , Philippe Corcia , Patrick Vourc'H
Frontiers in Neuroscience, 2019, 12, pp.1031. ⟨10.3389/fnins.2018.01031⟩
Article dans une revue hal-02351424v1

LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability

Julie Tastet , Hélène Cuberos , Béatrice Vallée , Annick Toutain , Martine Raynaud
Neuroscience, 2019, 399, pp.199-210. ⟨10.1016/j.neuroscience.2018.12.017⟩
Article dans une revue hal-02067472v1

LIMK2-1, a new isoform of human LIMK2, regulates actin cytoskeleton remodeling via a different signaling pathway than that of its two homologs, LIMK2a and LIMK2b

Béatrice Vallée , Hélène Cuberos , Michel Doudeau , Fabienne Godin , David Gosset
Biochemical Journal, 2018, 475 (23), pp.3745-3761
Article dans une revue hal-01966439v1

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions

Philippe Codron , Julien Cassereau , Patrick Vourc'H , Charlotte Veyrat-Durebex , Hélène Blasco
Amyotrophic lateral sclerosis & frontotemporal degeneration, 2018, 19 (5-6), pp.446-456. ⟨10.1080/21678421.2018.1431787⟩
Article dans une revue hal-01964500v1

The Metabolic Disturbances of Motoneurons Exposed to Glutamate

Sylvie Mavel , Blandine Madji Hounoum , Hélène Blasco , Emmanuelle Coque , Patrick Vourc’h
Molecular Neurobiology, 2018, ⟨10.1007/s12035-018-0945-8⟩
Article dans une revue hal-01826389v1

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

Philippe Corcia , Patrick Vourc’h , Hélène Blasco , Philippe Couratier , Audrey Dangoumau
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2018, 19 (5-6), pp.432-437
Article dans une revue hal-02029592v1
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Identification of metabolic pathway disturbances using multimodal metabolomics in autistic disorders in a Middle Eastern population

Sylvie Mavel , Tania Bitar , Patrick Emond , Lydie Nadal-Desbarats , Antoine Lefèvre
Journal of Pharmaceutical and Biomedical Analysis, 2018, 152, pp.57 - 65. ⟨10.1016/j.jpba.2018.01.007⟩
Article dans une revue hal-01826422v1
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Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE

Annabel Maruani , Marine Durieux-Verde , Juliette Mazereeuw-Hautier , Olivia Boccara , Ludovic Martin
Acta Dermato-Venereologica, 2018, 98 (2), pp.251-255. ⟨10.2340/00015555-2835⟩
Article dans une revue hal-02621329v1
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Changes in glomerular filtration rate and outcomes in patients with atrial fibrillation

Laurent Fauchier , Arnaud Bisson , Nicolas Clementy , Patrick Vourc'H , Denis Angoulvant
American Heart Journal, 2018, 198, pp.39-45. ⟨10.1016/j.ahj.2017.12.017⟩
Article dans une revue hal-03655485v1
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Wildtype motoneurons, ALS-Linked SOD1 mutation and glutamate profoundly modify astrocyte metabolism and lactate shuttling

Sylvie Mavel , Blandine Madji Hounoum , Emmanuelle Coque , Franck Patin , Patrick Vourc'H
Glia, 2017, 65 (4), pp.592 - 605. ⟨10.1002/glia.23114⟩
Article dans une revue hal-01826428v1

Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism

Franck Patin , Philippe Corcia , Patrick Vourc’h , Lydie Nadal-Desbarats , Thomas Baranek
Molecular Neurobiology, 2017, 54 (7), pp.5361-5374. ⟨10.1007/s12035-016-0078-x⟩
Article dans une revue hal-03601880v1

Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism

Franck Patin , Philippe Corcia , Patrick Vourc’h , Lydie Nadal-Desbarats , Thomas Baranek
Molecular Neurobiology, 2017, 54 (7), pp.5361-5374. ⟨10.1007/s12035-016-0078-x⟩
Article dans une revue hal-03534393v1

Ductal adenocarcinoma of the prostate: Clinical and biological profiles

Armelle Vinceneux , Franck Bruyere , Olivier Haillot , Thomas Charles , Alexandre de La Taille
Prostate, 2017, 77 (12), pp.1242 - 1250. ⟨10.1002/pros.23383⟩
Article dans une revue hal-01893586v1
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Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS

Hélène Blasco , Charlotte Veyrat-Durebex , Cinzia Bocca , Franck Patin , Patrick Vourc'H
Scientific Reports, 2017, 7, pp.17652. ⟨10.1038/s41598-017-17389-9⟩
Article dans une revue hal-02104331v1
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Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Russell L Mclaughlin , Dick Schijven , Wouter van Rheenen , Kristel R van Eijk , Margaret O’brien
Nature Communications, 2017, 8 (1), pp.14774. ⟨10.1038/ncomms14774⟩
Article dans une revue hal-04423266v1
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NSC-34 Motor Neuron-Like Cells Are Unsuitable as Experimental Model for Glutamate-Mediated Excitotoxicity

Blandine Madji Hounoum , Patrick Vourc’h , Romain Félix , Philippe Corcia , Franck Patin
Frontiers in Cellular Neuroscience, 2016, 10, pp.118. ⟨10.3389/fncel.2016.00118⟩
Article dans une revue hal-01826430v1

Panel of oxidative stress and inflammatory biomarkers in als: a pilot study

Helene Blasco , Guillaume Garcon , Franck Patin , Charlotte Veyrat-Durebex , Judith Boyer
Canadian Journal of Neurological Sciences, 2016, The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 44 (1), pp.90-95. ⟨10.1017/cjn.2016.284⟩
Article dans une revue hal-03776862v1
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Wouter van Rheenen , Aleksey Shatunov , Annelot Dekker , Russell Mclaughlin , Frank Diekstra
Nature Genetics, 2016, 48 (9), pp.1043-1048. ⟨10.1038/ng.3622⟩
Article dans une revue hal-03939751v1

Deficits in Information Transfer between Hospital-Based and Primary-Care Physicians, the Case of Kidney Disease: A Cross-Sectional Study

Bénédicte Sautenet , Agnès Caille , Bruno Giraudeau , Julie Léger , Patrick Vourc'H
Journal of Nephrology, 2015, 28 (5), pp.563-570. ⟨10.1007/s40620-015-0175-3⟩
Article dans une revue hal-03156122v1

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

Julie Tastet , Loïc Decalonne , Sylviane Marouillat , Joëlle Malvy , Rose-Anne Thépault
Psychiatric Genetics, 2015, 25 (6), pp.263-267. ⟨10.1097/ypg.0000000000000100⟩
Article dans une revue hal-02072312v1

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

Maïté Amy , Oliver Staehlin , Frédérique René , Hélène Blasco , Sylviane Marouillat
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2015, 16 (7-8), pp.490--496
Article dans une revue hal-01985793v1

Serum influence on in-vitro gene delivery using microbubble-assisted ultrasound

Aya Zeghimi , Novell Anthony , Rose-Anne Thepault , Patrick Vourc'H , Ayache Bouakaz
Journal of Drug Targeting, 2014, 22 (8), pp.748-760. ⟨10.3109/1061186X.2014.921922⟩
Article dans une revue inserm-02438479v1

A Prospective Study of Estimated Glomerular Filtration Rate and Outcomes in Patients With Atrial Fibrillation

Amitava Banerjee , Laurent Fauchier , Patrick Vourc'H , Christian Andres , Sophie Taillandier
Chest, 2014, 145 (6), pp.1370-1382. ⟨10.1378/chest.13-2103⟩
Article dans une revue hal-03677545v1

Total protein level in cerebrospinal fluid is stable in elderly adults

Diane Dufour-Rainfray , Emilie Beaufils , Patrick Vourc'H , Emilie Vierron , Laurent Mereghetti
Journal of the American Geriatrics Society, 2013, 61 (10), pp.1819-1821. ⟨10.1111/jgs.12489⟩
Article dans une revue hal-02650316v1
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1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

Sylvie Mavel , Lydie Nadal-Desbarats , Hélène Blasco , Frédérique Bonnet-Brilhault , Catherine Barthélémy
Talanta, 2013, 114, pp.95-102. ⟨10.1016/j.talanta.2013.03.064⟩
Article dans une revue inserm-00908930v1
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1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

Sylvie Mavel , Lydie Nadal-Desbarats , Hélène Blasco , Frédérique Bonnet-Brilhault , Catherine Barthélémy
Talanta, 2013, 114, pp.95-102. ⟨10.1016/j.talanta.2013.03.064⟩
Article dans une revue inserm-00908985v1
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Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.

Mariam Annan , Émilie Beaufils , Ursule-Catherine Viola , Patrick Vourc'H , Caroline Hommet
BMC Research Notes, 2013, 6 (1), pp.343. ⟨10.1186/1756-0500-6-343⟩
Article dans une revue inserm-00871180v1

Renal Impairment and Ischemic Stroke Risk Assessment in Patients With Atrial Fibrillation

Amitava Banerjee , Laurent Fauchier , Patrick Vourc'H , Christian Andres , Sophie Taillandier
Journal of the American College of Cardiology, 2013, 61 (20), pp.2079-2087. ⟨10.1016/j.jacc.2013.02.035⟩
Article dans une revue hal-03679433v1
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GC-MS-based urine metabolic profiling of autism spectrum disorders.

Patrick Emond , Sylvie Mavel , Nacima Aïdoud , Lydie Nadal-Desbarats , Frédéric Montigny
Analytical and Bioanalytical Chemistry, 2013, 405 (15), pp.5291-300. ⟨10.1007/s00216-013-6934-x⟩
Article dans une revue inserm-00908948v1

LIMK2d, a truncated isoform of Lim kinase 2 regulates neurite growth in absence of the LIM kinase domain

Julie Tastet , Patrick Vourc'H , Frédéric Laumonnier , Béatrice Vallée , Carole Michelle
Biochemical and Biophysical Research Communications, 2012, 420 (2), pp.247-252. ⟨10.1016/j.bbrc.2012.02.134⟩
Article dans une revue hal-01136281v1

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.

Julien Praline , Hélène Blasco , Patrick Vourc'H , Valérian Rat , Chantal Gendrot
Journal of the Neurological Sciences, 2012, 317 (1-2), pp.58-61. ⟨10.1016/j.jns.2012.02.029⟩
Article dans une revue hal-00927560v1

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis.

Hélène Blasco , Patrick Vourc'H , Yann Nadjar , Bénédicte Ribourtout , Paul H Gordon
Journal of the Neurological Sciences, 2011, 303 (1-2), pp.124-7. ⟨10.1016/j.jns.2010.12.018⟩
Article dans une revue hal-00926903v1

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis.

Hélène Blasco , Philippe Corcia , Charlotte Veyrat-Durebex , Cathleen Coutadeur , Clémentine Fournier
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2011, 12 (3), pp.210-4. ⟨10.3109/17482968.2010.522587⟩
Article dans une revue hal-00926892v1
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Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency.

Refaat Tabagh , Christian Andres , Sylviane Védrine , Catherine Cherpi-Antar , Rose-Anne Thepault
BMC Medical Genetics, 2010, 11 (1), pp.30. ⟨10.1186/1471-2350-11-30⟩
Article dans une revue inserm-00663530v1
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Respiratory onset in an ALS family with L144F SOD1mutation

Philippe Corcia , Philippe Petiot , Zorica Stevic , Patrick Vourc'H , Raoul Morales
Journal of Neurology, Neurosurgery and Psychiatry, 2010, 82 (7), pp.747. ⟨10.1136/jnnp.2009.197558⟩
Article dans une revue hal-00600748v1

Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.

Isabelle Martin , Patrick Vourc'H , Marie Mahé , Rose-Anne Thépault , Catherine Antar
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2009, 10 (5-6), pp.432-5. ⟨10.3109/17482960802444972⟩
Article dans une revue hal-00926733v1

Effect of the oligodendrocyte myelin glycoprotein (OMgp) on the expansion and neuronal differentiation of rat neural stem cells

Isabelle Martin , Christian Andres , Sylviane Védrine , Refaat Tabagh , Caroline Michelle
Brain Research, 2009, 1284, pp.22-30. ⟨10.1016/j.brainres.2009.05.070⟩
Article dans une revue hal-02527025v1

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.

Agathe Paubel , Jeremy Violette , Maïté Amy , Julien Praline , Vincent Meininger
Archives of Neurology -Chigago-, 2008, 65 (10), pp.1333-6. ⟨10.1001/archneur.65.10.1333⟩
Article dans une revue hal-00926684v1

Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder

Patrick Vourc'H , Elisabeth Petit-Teixeira , Jean Pierre Müh , Christian Andres , Thierry Bienvenu
American Journal of Medical Genetics, 2002, 108 (2), pp.164-167. ⟨10.1002/ajmg.10210⟩
Article dans une revue hal-02019548v1

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients

Patrick Vourc'H , Thierry Bienvenu , Cherif Beldjord , Jamel Chelly , Catherine Barthélémy
European Journal of Human Genetics, 2001, 9 (7), pp.556-558. ⟨10.1038/sj.ejhg.5200660⟩
Article dans une revue hal-04110913v1

Corrélations entre les paramètres biologiques et la composition corporelle dans la sclérose latérale amyotrophique

Pierre Jésus , F Patin , S.E. Bakkouche , S. Beltran , C.R. Andres
Journées Francophones de Nutrition (JFN), Société Française de Nutrition (SFN) et la Société Francophone de Nutrition Clinique et Métabolisme (SFNEP), Nov 2018, Nice, France. pp.64
Communication dans un congrès hal-02365870v1

Dynamic hormonal control of mRNA translation

Kelly León , Astrid Musnier , Thomas Boulo , Gwenhael Jegot , Sophie Tesseraud
GDR 3545: RCPG-Physio-Med, Centre National de la Recherche Scientifique (CNRS). Paris, FRA., Oct 2013, Paris, France. 1 p
Communication dans un congrès hal-02810531v1

Dynamique du contrôle hormonal de la traduction des ARNm

Kelly León , Astrid Musnier , Thomas Boulo , Sophie Tesseraud , Vlad Costache
25. Colloque Biotechnocentre, Association pour le Développement des Biotechnologies en Région Centre (Biotechnocentre). Tours, FRA., Oct 2012, Seillac, France
Communication dans un congrès hal-02748238v1