Rezultati pretrage - Charlet-Berguerand, Nicolas

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

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

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

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The multiple molecular facets of fragile X-associated tremor/ataxia syndrome od Sellier, Chantal, Usdin, Karen, Pastori, Chiara, Peschansky, Veronica J, Tassone, Flora, Charlet-Berguerand, Nicolas

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Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy od Chakraborty, Mouli, Sellier, Chantal, Ney, Michel, Pascal, Villa, Charlet-Berguerand, Nicolas, Artero, Ruben, Llamusi, Beatriz

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

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Curcumin Regulates the r(CGG)(exp) RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome od Verma, Arun Kumar, Khan, Eshan, Mishra, Subodh Kumar, Mishra, Amit, Charlet-Berguerand, Nicolas, Kumar, Amit

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Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect od Okutman, Özlem, Demirel, Cem, Tülek, Firat, Pfister, Veronique, Büyük, Umut, Muller, Jean, Charlet-Berguerand, Nicolas, Viville, Stéphane

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

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

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CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3 od Dujardin, Gwendal, Buratti, Emanuele, Charlet-Berguerand, Nicolas, Martins de Araujo, Mafalda, Mbopda, Annick, Le Jossic-Corcos, Catherine, Pagani, Franco, Ferec, Claude, Corcos, Laurent

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

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

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Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death od Sellier, Chantal, Campanari, Maria‐Letizia, Julie Corbier, Camille, Gaucherot, Angeline, Kolb‐Cheynel, Isabelle, Oulad‐Abdelghani, Mustapha, Ruffenach, Frank, Page, Adeline, Ciura, Sorana, Kabashi, Edor, Charlet‐Berguerand, Nicolas

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

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A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD od Hukema, Renate K, Riemslagh, Fréderike W, Melhem, Shamiram, van der Linde, Herma C, Severijnen, Lies-Anne WFM, Edbauer, Dieter, Maas, Alex, Charlet-Berguerand, Nicolas, Willemsen, Rob, van Swieten, John C

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Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue od Gao, Yujing, Wilson, Gabrielle R., Stephenson, Sarah E. M., Oulad-Abdelghani, Mustapha, Charlet-Berguerand, Nicolas, Bozaoglu, Kiymet, McLean, Catriona A., Thomas, Paul Q., Finkelstein, David I., Lockhart, Paul J.

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Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD od Hukema, Renate K., Riemslagh, Fréderike W., Melhem, Shamiram, van der Linde, Herma C., Severijnen, Lies-Anne W. F. M., Edbauer, Dieter, Maas, Alex, Charlet-Berguerand, Nicolas, Willemsen, Rob, van Swieten, John C.

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N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy od Falcone, Sestina, Roman, William, Hnia, Karim, Gache, Vincent, Didier, Nathalie, Lainé, Jeanne, Auradé, Frederic, Marty, Isabelle, Nishino, Ichizo, Charlet-Berguerand, Nicolas, Romero, Norma Beatriz, Marazzi, Giovanna, Sassoon, David, Laporte, Jocelyn, Gomes, Edgar R

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

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