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Patrick Vourc'h

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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⟩
Journal articles hal-04541653v1
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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⟩
Journal articles hal-03939759v1
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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⟩
Journal articles inserm-03723283v1

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⟩
Journal articles hal-03521270v1
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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⟩
Journal articles hal-03939741v1
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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⟩
Journal articles 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⟩
Journal articles hal-03332250v1

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⟩
Journal articles hal-03369962v1
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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⟩
Journal articles hal-04198506v1
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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⟩
Journal articles hal-03493473v1
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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⟩
Journal articles hal-03350820v1

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⟩
Journal articles 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⟩
Journal articles 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⟩
Journal articles 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⟩
Journal articles 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
Journal articles hal-02032108v1
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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⟩
Journal articles hal-02351424v1

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⟩
Journal articles hal-02363239v1

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⟩
Journal articles 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
Journal articles hal-01966439v1

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⟩
Journal articles 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
Journal articles hal-02029592v1

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⟩
Journal articles hal-01964500v1
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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⟩
Journal articles hal-01826422v1
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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⟩
Journal articles hal-03655485v1
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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⟩
Journal articles hal-02621329v1
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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⟩
Journal articles hal-01826428v1

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⟩
Journal articles hal-01893586v1

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⟩
Journal articles hal-03534393v1

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⟩
Journal articles hal-03601880v1
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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⟩
Journal articles 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⟩
Journal articles hal-04423266v1

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⟩
Journal articles hal-03776862v1
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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⟩
Journal articles hal-01826430v1
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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⟩
Journal articles hal-03939751v1

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⟩
Journal articles hal-02072312v1

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⟩
Journal articles hal-03156122v1

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
Journal articles 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⟩
Journal articles 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⟩
Journal articles 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⟩
Journal articles hal-02650316v1

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⟩
Journal articles hal-03679433v1
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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⟩
Journal articles inserm-00908985v1
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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⟩
Journal articles inserm-00908930v1
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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⟩
Journal articles inserm-00871180v1
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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⟩
Journal articles 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⟩
Journal articles 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⟩
Journal articles hal-00927560v1

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⟩
Journal articles hal-00926892v1

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⟩
Journal articles hal-00926903v1
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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⟩
Journal articles 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⟩
Journal articles 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⟩
Journal articles 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⟩
Journal articles 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⟩
Journal articles 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⟩
Journal articles 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⟩
Journal articles 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
Conference papers 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
Conference papers 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
Conference papers hal-02748238v1