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Frédéric Charbonnier

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Julien Branchu; Farah Chali; Christophe Chanoine; Thibault Collin; Felix Leroy; Philippe Lopes; Joelle Makoukji; Kamel Mamchaoui; Charbel Massaad; Claude Pariset; Olivier Biondi; Frédéric Charbonnier
Shift from extracellular signal-regulated kinase to AKT/cAMP response element-binding protein pathway increases survival-motor-neuron expression in spinal-muscular-atrophy-like mice and patient cells.
Gabriel Sanchez; Helina Tadesse; Olivier Biondi; Frédéric Charbonnier; Alain Y Dury; Rachid El Fatimy; Edouard W Khandjian; Rashmi Kothary; Lyndsay M Murray; Jocelyn Côté
A novel function for the survival motoneuron protein as a translational regulator.
Olivier Biondi; Julien Branchu; Farah Chali; Christophe Chanoine; Céline Desseille; Philippe Lopes; Claude Pariset; Amina Ben Salah; Frédéric Charbonnier
Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice.

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All Publications

2013: Julien Branchu; Farah Chali; Christophe Chanoine; Thibault Collin; Felix Leroy; Philippe Lopes; Joelle Makoukji; Kamel Mamchaoui; Charbel Massaad; Claude Pariset; Olivier Biondi; Frédéric Charbonnier
Shift from extracellular signal-regulated kinase to AKT/cAMP response element-binding protein pathway increases survival-motor-neuron expression in spinal-muscular-atrophy-like mice and patient cells.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2013;33(10):4280-94.
2013: Gabriel Sanchez; Helina Tadesse; Olivier Biondi; Frédéric Charbonnier; Alain Y Dury; Rachid El Fatimy; Edouard W Khandjian; Rashmi Kothary; Lyndsay M Murray; Jocelyn Côté
A novel function for the survival motoneuron protein as a translational regulator.
Human molecular genetics 2013;22(4):668-84.
2012: Olivier Biondi; Julien Branchu; Farah Chali; Christophe Chanoine; Céline Desseille; Philippe Lopes; Claude Pariset; Amina Ben Salah; Frédéric Charbonnier
Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice.
The Journal of physiology 2012;590(Pt 22):5907-25.
2012: Bruno Della Gaspera; Sylvie Lécolle; André Mazabraud; Inés Sequeira; Anne-Sophie Armand; Frédéric Charbonnier; Albert Chesneau; Christophe Chanoine
Myogenic waves and myogenic programs during Xenopus embryonic myogenesis.
Developmental dynamics : an official publication of the American Association of Anatomists 2012;241(5):995-1007.
2012: Joelle Makoukji; Delphine Meffre; Michael Schumacher; Michael W Sereda; Ghjuvan'Ghjacumu Shackleford; Ruth Stassart; Etienne-Emile Baulieu; Martin Belle; Sophie Bernard; Julien Branchu; Frédéric Charbonnier; Catherine de Waele; Robert Fledrich; Cosima Fonte; Marie Goulard; Julien Grenier; Charbel Massaad
Lithium enhances remyelination of peripheral nerves.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(10):3973-8.
2012: Bruno Della Gaspera; Sylvie Lecolle; Anne-Sophie Armand; Frédéric Charbonnier; Christophe Chanoine
Mef2d acts upstream of muscle identity genes and couples lateral myogenesis to dermomyotome formation in Xenopus laevis.
PloS one 2012;7(12):e52359.
2011: Solene Houlle; Julie Tinat; Estelle Houivet; Stephanie Baert-Desurmont; Jacques Benichou; Marie-Pierre Buisine; Olivier Caron; Frédéric Charbonnier; Thierry Frebourg
Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.
European journal of human genetics : EJHG 2011;19(8):887-92.
2011: Iman Laziz; Anne-Sophie Armand; Frédéric Charbonnier; Arnaud Ferry; Claude-Louis Gallien; Bruno Della Gaspera; Christophe Chanoine
Eccentric stimulation reveals an involvement of FGF6 in muscle resistance to mechanical stress.
European journal of applied physiology 2011;111(7):1507-15.
2010: Olivier Biondi; Julien Branchu; Gabriel Sanchez; Camille Lancelin; Séverine Deforges; Philippe Lopes; Claude Pariset; Sylvie Lécolle; Jocelyn Côté; Christophe Chanoine; Frédéric Charbonnier
In vivo NMDA receptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2010;30(34):11288-99.
2009: Bruno della Gaspera; Anne-Sophie Armand; Ines Sequeira; Sylvie Lecolle; Claude-Louis Gallien; Frédéric Charbonnier; Christophe Chanoine
The Xenopus MEF2 gene family: evidence of a role for XMEF2C in larval tendon development.
Developmental biology 2009;328(2):392-402.
2008: Isabelle Tournier; Myriam Vezain; Alexandra Martins; Frédéric Charbonnier; Stephanie Baert-Desurmont; Sylviane Olschwang; Qing Wang; Marie-Pierre Buisine; Johann Soret; Jamal Tazi; Thierry Frébourg; Mario Tosi
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Human mutation 2008;29(12):1412-24.
2008: F Di Fiore; Frédéric Charbonnier; Benoit Lefebure; M Laurent; F Le Pessot; Pierre Michel; Thierry Frebourg
Clinical interest of KRAS mutation detection in blood for anti-EGFR therapies in metastatic colorectal cancer.
British journal of cancer 2008;99(3):551-2.
2008: Olivier Biondi; Clément Grondard; Sylvie Lécolle; Séverine Deforges; Claude Pariset; Philippe Lopes; Carmen Cifuentes-Diaz; Hung Li; Bruno Della Gaspera; Christophe Chanoine; Frédéric Charbonnier
Exercise-induced activation of NMDA receptor promotes motor unit development and survival in a type 2 spinal muscular atrophy model mouse.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(4):953-62.
2008: Clément Grondard; Olivier Biondi; Claude Pariset; Philippe Lopes; Séverine Deforges; Sylvie Lécolle; Bruno Della Gaspera; Claude-Louis Gallien; Christophe Chanoine; Frédéric Charbonnier
Exercise-induced modulation of calcineurin activity parallels the time course of myofibre transitions.
Journal of cellular physiology 2008;214(1):126-35.
2007: Iman Laziz; Anne-Sophie Armand; Claude Pariset; Sylvie Lecolle; Bruno Della Gaspera; Frédéric Charbonnier; Christophe Chanoine
Sprouty gene expression is regulated by nerve and FGF6 during regeneration of mouse muscles.
Growth factors (Chur, Switzerland) 2007;25(3):151-9.
2007: Frédéric Di Fiore; France Blanchard; Frédéric Charbonnier; Florence Le Pessot; Aude Lamy; Marie-Pierre Galais; L Bastit; Audrey Killian; Richard Sesboüé; Jean-Jacques Tuech; A M Queuniet; Bernard Paillot; J C Sabourin; Francis Michot; Pierre Michel; Thierry Frebourg
Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by Cetuximab plus chemotherapy.
British journal of cancer 2007;96(8):1166-9.
2006: Bruno Della Gaspera; Ines Sequeira; Frédéric Charbonnier; Christel Becker; De-Li Shi; Christophe Chanoine
Spatio-temporal expression of MRF4 transcripts and protein during Xenopus laevis embryogenesis.
Developmental dynamics : an official publication of the American Association of Anatomists 2006;235(2):524-9.
2005: Laurence Faivre; Pascale Saugier-Veber; Jean-Paul Pais de Barros; Bruno Verges; Bertrand Couret; Bernard Lorcerie; Christel Thauvin; Frédéric Charbonnier; Frédéric Huet; Philippe Gambert; Thierry Frebourg; Laurence Duvillard
Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.
European journal of human genetics : EJHG 2005;13(11):1186-91.
2005: Frédéric Charbonnier; Stephanie Baert-Desurmont; Ping Liang; Frédéric Di Fiore; Cosette Martin; Stephanie Frerot; Sylviane Olschwang; Qing Wang; Marie-Pierre Buisine; Brigitte Gilbert; Mef Nilbert; Annika Lindblom; Thierry Frebourg
The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.
Human mutation 2005;26(3):255-61.
2005: Clément Grondard; Olivier Biondi; Anne-Sophie Armand; Sylvie Lécolle; Bruno Della Gaspera; Claude Pariset; Hung Li; Claude-Louis Gallien; Pierre-Paul Vidal; Christophe Chanoine; Frédéric Charbonnier
Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2005;25(33):7615-22.
2005: Anne-Sophie Armand; Claude Pariset; Iman Laziz; Thierry Launay; Frédéric Fiore; Bruno Della Gaspera; Daniel Birnbaum; Frédéric Charbonnier; Christophe Chanoine
FGF6 regulates muscle differentiation through a calcineurin-dependent pathway in regenerating soleus of adult mice.
Journal of cellular physiology 2005;204(1):297-308.
2004: Christophe Chanoine; Bruno Della Gaspera; Frédéric Charbonnier
Myogenic regulatory factors: redundant or specific functions? Lessons from Xenopus.
Developmental dynamics : an official publication of the American Association of Anatomists 2004;231(4):662-70.
2004: Anne-Sophie Armand; Sylvie Lécolle; Thierry Launay; Claude Pariset; Frédéric Fiore; Bruno Della Gaspera; Daniel Birnbaum; Christophe Chanoine; Frédéric Charbonnier
IGF-II is up-regulated and myofibres are hypertrophied in regenerating soleus of mice lacking FGF6.
Experimental cell research 2004;297(1):27-38.
2004: Frédéric Di Fiore; Frédéric Charbonnier; Cosette Martin; Stephanie Frerot; Sylviane Olschwang; Qing Wang; Cécile Boisson; Marie-Pierre Buisine; Mef Nilbert; A Lindblom; Thierry Frebourg
Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.
Journal of medical genetics 2004;41(1):18-20.
2003: Anne-Sophie Armand; Thierry Launay; Claude Pariset; Bruno Della Gaspera; Frédéric Charbonnier; Christophe Chanoine
Injection of FGF6 accelerates regeneration of the soleus muscle in adult mice.
Biochimica et biophysica acta 2003;1642(1-2):97-105.
2003: Anne-Sophie Armand; Thierry Launay; Bruno Della Gaspera; Frédéric Charbonnier; Claude-Louis Gallien; Christophe Chanoine
Effects of eccentric treadmill running on mouse soleus: degeneration/regeneration studied with Myf-5 and MyoD probes.
Acta physiologica Scandinavica 2003;179(1):75-84.
2003: Frédéric Charbonnier; Bruno Della Gaspara; Anne-Sophie Armand; Sylvie Lécolle; Thierry Launay; Claude-Louis Gallien; Christophe Chanoine
Specific activation of the acetylcholine receptor subunit genes by MyoD family proteins.
The Journal of biological chemistry 2003;278(35):33169-74.
2003: Christel Becker; Bruno Della Gaspera; Michèle Guyot; Evelyne Donsez; Anne-Sophie Armand; Frédéric Charbonnier; Thierry Launay; Christophe Chanoine
Expression of MRF4 protein in adult and in regenerating muscles in Xenopus.
Developmental dynamics : an official publication of the American Association of Anatomists 2003;227(3):445-9.
2003: Anne-Sophie Armand; Bruno Della Gaspera; Thierry Launay; Frédéric Charbonnier; Claude-Louis Gallien; Christophe Chanoine
Expression and neural control of follistatin versus myostatin genes during regeneration of mouse soleus.
Developmental dynamics : an official publication of the American Association of Anatomists 2003;227(2):256-65.
2003: Gaëlle Bougeard; Laurence Brugières; Agnès Chompret; Paul Gesta; Frédéric Charbonnier; Alexander Valent; Cosette Martin; Gregory RAUX; Jean Feunteun; Brigitte Bressac De-Paillerets; Thierry Frébourg
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene.
Oncogene 2003;22(6):840-6.
2003: Gaëlle Bougeard; Frédéric Charbonnier; Alexandre Moerman; Cosette Martin; Marie-Magdeleine Ruchoux; Nathalie Drouot; Thierry Frébourg
Early onset brain tumor and lymphoma in MSH2-deficient children.
American journal of human genetics 2003;72(1):213-6.
2002: Frédéric Charbonnier; Sylviane Olschwang; Qing Wang; Cécile Boisson; Cosette Martin; Marie-Pierre Buisine; Alain Puisieux; Thierry Frebourg
MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.
Cancer research 2002;62(3):848-53.
2002: Frédéric Charbonnier; Bruno Della Gaspera; Anne-Sophie Armand; Willem J Van der Laarse; Thierry Launay; Christel Becker; Claude-Louis Gallien; Christophe Chanoine
Two myogenin-related genes are differentially expressed in Xenopus laevis myogenesis and differ in their ability to transactivate muscle structural genes.
The Journal of biological chemistry 2002;277(2):1139-47.
2001: Thierry Launay; Anne-Sophie Armand; Frédéric Charbonnier; JC Mira; E Donsez; Claude-Louis Gallien; Christophe Chanoine
Expression and neural control of myogenic regulatory factor genes during regeneration of mouse soleus.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2001;49(7):887-99.
2001: Gaëlle Bougeard; Jean-Marc Limacher; Cosette Martin; Frédéric Charbonnier; Audrey Killian; O Delattre; Michel Longy; Philippe Jonveaux; J P Fricker; Dominique Stoppa-Lyonnet; Jean-Michel Flaman; Thierry Frébourg
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.
Journal of medical genetics 2001;38(4):253-7.
2001: Pascale Saugier-Veber; Nathalie Drouot; Suzie Lefebvre; Frédéric Charbonnier; Elodie Vial; Arnold Munnich; Thierry Frébourg
Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method.
Journal of medical genetics 2001;38(4):240-3.
2000: Frédéric Charbonnier; Gregory RAUX; Q Wang; Nathalie Drouot; F Cordier; Jean-Marc Limacher; Jean-Christophe Saurin; Alain Puisieux; Sylviane Olschwang; Thierry Frebourg
Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments.
Cancer research 2000;60(11):2760-3.
2000: Carmen Cifuentes-Diaz; Patrick M Alliel; Frédéric Charbonnier; S de la Porte; Jordi Molgó; Danièle Goudou; François Rieger; Jean-Pierre Périn
Regulated expression of the proteoglycan SPOCK in the neuromuscular system.
Mechanisms of development 2000;94(1-2):277-82.
2000: Valerie Robert; Pierre Michel; Jean-Michel Flaman; Anne Chiron; Cosette Martin; Frédéric Charbonnier; Bernard Paillot; Thierry Frebourg
High frequency in esophageal cancers of p53 alterations inactivating the regulation of genes involved in cell cycle and apoptosis.
Carcinogenesis 2000;21(4):563-5.
2000: Frédéric Charbonnier; Christophe Chanoine; Carmen Cifuentes-Diaz; Claude-Louis Gallien; François Rieger; Patrick M Alliel; Jean-Pierre Périn
Expression of the proteoglycan SPOCK during mouse embryo development.
Mechanisms of development 2000;90(2):317-21.
1999: Nadia Seddiqi; Frédéric Charbonnier; Danièle Goudou; L Belkadi; François Rieger; Patrick M Alliel
Genomic organization and expression of the ubiquitin-proteasome complex-associated protein Rbx1/ROC1/Hrt1.
Cellular and molecular biology (Noisy-le-Grand, France) 1999;45(8):1131-7.
1999: Dominique Campion; Cécile Dumanchin; Didier Hannequin; Bruno Dubois; Serge Belliard; Michèle Puel; Catherine Thomas-Anterion; A Michon; Cosette Martin; Frédéric Charbonnier; Gregory RAUX; Agnès Camuzat; C Penet; V Mesnage; M Martinez; Françoise Clerget-Darpoux; Alexis Brice; Thierry Frebourg
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
American journal of human genetics 1999;65(3):664-70.
1999: Cécile Dumanchin; Christian Czech; Dominique Campion; Marie-Hélène Cuif; T Poyot; Cosette Martin; Frédéric Charbonnier; Bruno Goud; Laurent Pradier; Thierry Frebourg
Presenilins interact with Rab11, a small GTPase involved in the regulation of vesicular transport.
Human molecular genetics 1999;8(7):1263-9.
1999: F Bonnet-Brilhault; Claudine Laurent; Dominique Campion; Florence Thibaut; C Lafargue; Frédéric Charbonnier; Jean-François Deleuze; Jean-François Ménard; M Jay; Michel Petit; Thierry Frebourg; Jacques Mallet
No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia.
European journal of human genetics : EJHG 1999;7(2):247-50.
1998: Cécile Dumanchin; Agnès Camuzat; Dominique Campion; Patrice Verpillat; D Hannequin; Bruno Dubois; Pascale Saugier-Veber; Cosette Martin; C Penet; Frédéric Charbonnier; Yves Agid; Thierry Frebourg; Alexis Brice
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
Human molecular genetics 1998;7(11):1825-9.
1998: Frédéric Charbonnier; Jean-Pierre Périn; M G Mattei; Agnès Camuzat; F Bonnet; L Gressin; Patrick M Alliel
Genomic organization of the human SPOCK gene and its chromosomal localization to 5q31.
Genomics 1998;48(3):377-80.
1997: Frédéric Charbonnier; Jean-Pierre Périn; Guy Roussel; JL Nussbaum; Patrick M Alliel
[Cloning of testican/SPOCK in man and mouse. Neuromuscular expression perspectives in pathology].
Comptes rendus des séances de la Société de biologie et de ses filiales 1997;191(1):127-33.
1996: J Mauillon; Pierre Michel; J M Limacher; J B Latouche; P Dechelotte; Frédéric Charbonnier; Cosette Martin; V Moreau; J Metayer; B Paillot; Thierry Frebourg
Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer.
Cancer research 1996;56(24):5728-33.
1996: Dominique Campion; Alexis Brice; Didier Hannequin; Frédéric Charbonnier; Bruno Dubois; Cosette Martin; A Michon; C Penet; M Bellis; A Calenda; M Martinez; Yves Agid; Françoise Clerget-Darpoux; Thierry Frebourg
No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.
Journal of medical genetics 1996;33(8):661-4.
1996: B Coron; Dominique Campion; Florence Thibaut; Sonia Dollfus; P Preterre; S Langlois; T Vasse; V Moreau; C Martin; Frédéric Charbonnier; Claudine Laurent; Jacques Mallet; Michel Petit; T Frebourg
Association study between schizophrenia and monoamine oxidase A and B DNA polymorphisms.
Psychiatry research 1996;62(3):221-6.
1996: F Bonnet; Jean-Pierre Périn; Frédéric Charbonnier; Agnès Camuzat; Guy Roussel; JL Nussbaum; Patrick M Alliel
Structure and cellular distribution of mouse brain testican. Association with the postsynaptic area of hippocampus pyramidal cells.
The Journal of biological chemistry 1996;271(8):4373-80.
1995: Dominique Campion; Jean-Michel Flaman; Alexis Brice; Didier Hannequin; Bruno Dubois; Cosette Martin; V Moreau; Frédéric Charbonnier; O Didierjean; Sandrine Tardieu
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
Human molecular genetics 1995;4(12):2373-7.
1995: Frédéric Charbonnier; Cosette Martin; michel scotté; Louis Sibert; V Moreau; Thierry Frebourg
Alternative splicing of MLH1 messenger RNA in human normal cells.
Cancer research 1995;55(9):1839-41.
1995: Jean-Michel Flaman; Thierry Frebourg; V Moreau; Frédéric Charbonnier; Cosette Martin; P Chappuis; A P Sappino; I M Limacher; L Bron; J Benhattar
A simple p53 functional assay for screening cell lines, blood, and tumors.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(9):3963-7.
1995: Dominique Campion; Cosette Martin; Roland Heilig; Frédéric Charbonnier; V Moreau; Jean-Michel Flaman; JL Petit; Didier Hannequin; Alexis Brice; Thierry Frebourg
The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease.
Genomics 1995;26(2):254-7.
1995: S Beufé; Jeanne-Yvonne Borg; Marc Vasse; Frédéric Charbonnier; V Moreau; Mathieu Monconduit; Thierry Frebourg
Co-segregation of thrombosis with the factor V Q506 mutation in an extended family with resistance to activated protein C.
British journal of haematology 1995;89(3):659-62.
1994: Jean-Michel Flaman; Thierry Frebourg; V Moreau; Frédéric Charbonnier; Cosette Martin; C Ishioka; S H Friend; Richard D Iggo
A rapid PCR fidelity assay.
Nucleic acids research 1994;22(15):3259-60.