Canlyniadau Chwilio - Charlet-Berguerand, Nicolas

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue gan 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.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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 gan 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.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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 gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn