检索结果 - Nicolas Charlet‐Berguerand

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  1. 1
    Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

    Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins? 由 Manon Boivin, Nicolas Charlet‐Berguerand

    出版 2022
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  2. 2
    The CELF Family of RNA Binding Proteins Is Implicated in Cell-Specific and Developmentally Regulated Alternative Splicing

    The CELF Family of RNA Binding Proteins Is Implicated in Cell-Specific and Developmentally Regulated Alternative Splicing 由 Andrea N. Ladd, Nicolas Charlet‐Berguerand, Thomas A. Cooper

    出版 2001
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  3. 3
    Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome

    Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome 由 M. Rebecca Glineburg, Peter K. Todd, Nicolas Charlet‐Berguerand, Chantal Sellier

    出版 2018
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  4. 4
    Dynamic Antagonism between ETR-3 and PTB Regulates Cell Type-Specific Alternative Splicing

    Dynamic Antagonism between ETR-3 and PTB Regulates Cell Type-Specific Alternative Splicing 由 Nicolas Charlet‐Berguerand, Gopal K. Singh, Thomas A. Cooper, P. G. Logan

    出版 2002
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  5. 5
    The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway

    The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway 由 Sorana Ciura, Chantal Sellier, Maria‐Letizia Campanari, Nicolas Charlet‐Berguerand, Edor Kabashi

    出版 2016
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  6. 6
    Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

    Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders 由 Manon Boivin, Véronique Pfister, Angéline Gaucherot, Frank Ruffenach, Luc Négroni, Chantal Sellier, Nicolas Charlet‐Berguerand

    出版 2020
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  7. 7
    Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing

    Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing 由 Nicolas Charlet‐Berguerand, Rajesh S. Savkur, Gopal K. Singh, Anne V. Philips, Elizabeth A. Grice, Thomas Cooper

    出版 2002
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  8. 8
    Muscleblind proteins regulate alternative splicing

    Muscleblind proteins regulate alternative splicing 由 Thai H. Ho, Nicolas Charlet‐Berguerand, Michael G. Poulos, Gopal K. Singh, Maurice S. Swanson, Thomas A. Cooper

    出版 2004
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  9. 9
    RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors

    RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors 由 Nicolas Charlet‐Berguerand, Sascha Feuerhahn, Stephanie E. Kong, Howard Ziserman, Joan Conaway, Ronald Conaway, Jean‐Marc Egly

    出版 2006
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  10. 10
    A Small Molecule That Targets r(CGG)<sup>exp</sup> and Improves Defects in Fragile X-Associated Tremor Ataxia Syndrome

    A Small Molecule That Targets r(CGG)<sup>exp</sup> and Improves Defects in Fragile X-Associated Tremor Ataxia Syndrome 由 Matthew D. Disney, Biao Liu, Wang‐Yong Yang, Chantal Sellier, Tuan Anh Tran, Nicolas Charlet‐Berguerand, Jessica L. Childs‐Disney

    出版 2012
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  11. 11
    CGG repeat expansion in <i>NOTCH2NLC</i> causes mitochondrial dysfunction and progressive neurodegeneration in <i>Drosophila</i> model

    CGG repeat expansion in <i>NOTCH2NLC</i> causes mitochondrial dysfunction and progressive neurodegeneration in <i>Drosophila</i> model 由 Jiaxi Yu, Tongling Liufu, Yilei Zheng, Jin Xu, Lingchao Meng, Wei Zhang, Yun Yuan, Daojun Hong, Nicolas Charlet‐Berguerand, Zhaoxia Wang, Jianwen Deng

    出版 2022
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  12. 12
    Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome

    Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome 由 Chantal Sellier, Vicki J. Hwang, Ravi Dandekar, Blythe Durbin‐Johnson, Nicolas Charlet‐Berguerand, Bradley P. Ander, Frank R. Sharp, Kathleen Angkustsiri, Tony J. Simon, Flora Tassone

    出版 2014
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  13. 13
    Loss of C9 <scp>ORF</scp> 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

    Loss of C9 <scp>ORF</scp> 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death 由 Chantal Sellier, Maria‐Letizia Campanari, Camille Corbier, Angéline Gaucherot, Isabelle Kolb‐Cheynel, Mustapha Oulad‐Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi, Nicolas Charlet‐Berguerand

    出版 2016
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  14. 14
    FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

    FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome 由 Ronald A.M. Buijsen, Chantal Sellier, Lies-Anne Severijnen, Mustapha Oulad‐Abdelghani, Rob F. M. Verhagen, Robert F. Berman, Nicolas Charlet‐Berguerand, Rob Willemsen, Renate K. Hukema

    出版 2014
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  15. 15
    Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

    Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovar... 由 Ronald A.M. Buijsen, Jenny A. Visser, P. Kramer, E. Severijnen, Marla Gearing, Nicolas Charlet‐Berguerand, Stephanie L. Sherman, Robert F. Berman, Rob Willemsen, Renate K. Hukema

    出版 2015
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  16. 16
    Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

    Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients 由 Chantal Sellier, Fredérique Rau, Yilei Liu, Flora Tassone, Renate K. Hukema, Renata Gattoni, Anne Schneider, Stéphane Richard, Rob Willemsen, David J. Elliott, Paul J. Hagerman, Nicolas Charlet‐Berguerand

    出版 2010
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  17. 17
    Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

    Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia 由 Anika H.D.M. Dam, Isabelle Koscinski, Jan A.M. Kremer, Céline Moutou, Anne-Sophie Jaeger, Astrid Oudakker, Herman Tournaye, Nicolas Charlet‐Berguerand, Clotilde Lagier‐Tourenne, Hans van Bokhoven, Stéphane Viville

    出版 2007
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  18. 18
    Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

    Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers 由 Petra Frick, Chantal Sellier, Ian R. Mackenzie, Chieh-Yu Cheng, Julie Tahraoui‐Bories, Cécile Martinat, R. Jeroen Pasterkamp, Johannes Prudlo, Dieter Edbauer, Mustapha Oulad‐Abdelghani, Regina Feederle, Nicolas Charlet‐Berguerand, Manuela Neumann

    出版 2018
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  19. 19
    N‐<scp>WASP</scp> is required for Amphiphysin‐2/<scp>BIN</scp>1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

    N‐<scp>WASP</scp> is required for Amphiphysin‐2/<scp>BIN</scp>1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of ce... 由 Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frédéric Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet‐Berguerand, Norma B. Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte, Edgar R. Gomes

    出版 2014
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  20. 20
    Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

    Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome 由 Chantal Sellier, Fernande Freyermuth, Ricardos Tabet, Tuan Anh Tran, Fang He, Frank Ruffenach, Violaine Alunni, Hervé Moine, Christelle Thibault-Carpentier, Adeline Page, Flora Tassone, Rob Willemsen, Matthew D. Disney, P. J. Hagerman, Peter K. Todd, Nicolas Charlet‐Berguerand

    出版 2013
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