Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer’s disease and progressive supranuclear palsy brains

par Huin, Vincent, Buée, Luc, Behal, Hélène, Labreuche, Julien, Sablonnière, Bernard, Dhaenens, Claire-Marie
Publié dans Sci Rep (2017)

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy

par Caillet-Boudin, Marie-Laure, Fernandez-Gomez, Francisco-Jose, Tran, Hélène, Dhaenens, Claire-Marie, Buee, Luc, Sergeant, Nicolas
Publié 2014

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

par Meunier, Isabelle, Bocquet, Béatrice, Charif, Majida, Dhaenens, Claire-Marie, Manes, Gael, Amati-Bonneau, Patrizia, Roubertie, Agathe, Zanlonghi, Xavier, Lenaers, Guy
Publié dans Retina (2021)

Tau as a biomarker of neurodegenerative diseases

par Schraen-Maschke, Susanna, Sergeant, Nicolas, Dhaenens, Claire-Marie, Bombois, Stephanie, Deramecourt, Vincent, Caillet-Boudin, Marie-Laure, Pasquier, Florence, Maurage, Claude-Alain, Sablonniere, Bernard, Vanmechelen, Eugeen, Buee, Luc
Publié 2008

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease

par Nassisi, Marco, Mohand-Saïd, Saddek, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Méjécase, Cécile, Varin, Juliette, Wohlschlegel, Juliette, Dhaenens, Claire-Marie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Publié dans Int J Mol Sci (2019)

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

par Nassisi, Marco, Mohand-Saïd, Saddek, Dhaenens, Claire-Marie, Boyard, Fiona, Démontant, Vanessa, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Foussard, Marine, Méjécase, Cécile, Eandi, Chiara Maria, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Publié dans Int J Mol Sci (2018)

Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance

par Ben Hamou, Adrien, Espiard, Stéphanie, Do Cao, Christine, Ladsous, Miriam, Loyer, Camille, Moerman, Alexandre, Boury, Samuel, Kyheng, Maéva, Dhaenens, Claire-Marie, Tiffreau, Vincent, Pigny, Pascal, Lebuffe, Gilles, Caiazzo, Robert, Aubert, Sébastien, Vantyghem, Marie Christine
Publié dans Orphanet J Rare Dis (2019)

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

par Runhart, Esmee H., Khan, Mubeen, Cornelis, Stéphanie S., Roosing, Susanne, Del Pozo-Valero, Marta, Lamey, Tina M., Liskova, Petra, Roberts, Lisa, Stöhr, Heidi, Klaver, Caroline C. W., Hoyng, Carel B., Cremers, Frans P. M., Dhaenens, Claire-Marie
Publié dans JAMA Ophthalmol (2020)

Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial

par Parker, Maria A., Choi, Dongseok, Erker, Laura R., Pennesi, Mark E., Yang, Paul, Chegarnov, Elvira N., Steinkamp, Peter N., Schlechter, Catherine L., Dhaenens, Claire-Marie, Mohand-Said, Saddek, Audo, Isabelle, Sahel, Jose, Weleber, Richard G., Wilson, David J.
Publié dans Transl Vis Sci Technol (2016)

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

par Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Zeitz, Christina, Obermaier, Carolin D., Devos, Aurore, Pelletier, Valérie, Bocquet, Béatrice, Andrieu, Camille, Bacquet, Jean-Louis, Lebredonchel, Elodie, Mohand-Saïd, Saddek, Defoort-Dhellemmes, Sabine, Sahel, José-Alain, Dollfus, Hélène, Zanlonghi, Xavier, Audo, Isabelle, Meunier, Isabelle, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie
Publié dans Int J Mol Sci (2021)

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

par Meunier, Isabelle, Bocquet, Béatrice, Labesse, Gilles, Zeitz, Christina, Defoort-Dhellemmes, Sabine, Lacroux, Annie, Mauget-Faysse, Martine, Drumare, Isabelle, Gamez, Anne-Sophie, Mathieu, Cyril, Marquette, Virginie, Sagot, Lola, Dhaenens, Claire-Marie, Arndt, Carl, Carroll, Patrick, Remy-Jardin, Martine, Cohen, Salomon Yves, Sahel, José-Alain, Puech, Bernard, Audo, Isabelle, Mrejen, Sarah, Hamel, Christian P.
Publié dans Sci Rep (2016)

Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms

par Tran, Hélène, Gourrier, Nathalie, Lemercier-Neuillet, Camille, Dhaenens, Claire-Marie, Vautrin, Audrey, Fernandez-Gomez, Francisco José, Arandel, Ludovic, Carpentier, Céline, Obriot, Hélène, Eddarkaoui, Sabiha, Delattre, Lucie, Van Brussels, Edwige, Holt, Ian, Morris, Glenn E., Sablonnière, Bernard, Buée, Luc, Charlet-Berguerand, Nicolas, Schraen-Maschke, Susanna, Furling, Denis, Behm-Ansmant, Isabelle, Branlant, Christiane, Caillet-Boudin, Marie-Laure, Sergeant, Nicolas
Publié 2011

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

par Manes, Gaël, Meunier, Isabelle, Avila-Fernández, Almudena, Banfi, Sandro, Le Meur, Guylène, Zanlonghi, Xavier, Corton, Marta, Simonelli, Francesca, Brabet, Philippe, Labesse, Gilles, Audo, Isabelle, Mohand-Said, Saddek, Zeitz, Christina, Sahel, José-Alain, Weber, Michel, Dollfus, Hélène, Dhaenens, Claire-Marie, Allorge, Delphine, De Baere, Elfride, Koenekoop, Robert K., Kohl, Susanne, Cremers, Frans P.M., Hollyfield, Joe G., Sénéchal, Audrey, Hebrard, Maxime, Bocquet, Béatrice, Ayuso García, Carmen, Hamel, Christian P.
Publié 2013

CNGB1‐related rod‐cone dystrophy: A mutation review and update

par Nassisi, Marco, Smirnov, Vasily M., Solis Hernandez, Cyntia, Mohand‐Saïd, Saddek, Condroyer, Christel, Antonio, Aline, Kühlewein, Laura, Kempf, Melanie, Kohl, Susanne, Wissinger, Bernd, Nasser, Fadi, Ragi, Sara D., Wang, Nan‐Kai, Sparrow, Janet R., Greenstein, Vivienne C., Michalakis, Stylianos, Mahroo, Omar A., Ba‐Abbad, Rola, Michaelides, Michel, Webster, Andrew R., Degli Esposti, Simona, Saffren, Brooke, Capasso, Jenina, Levin, Alex, Hauswirth, William W., Dhaenens, Claire‐Marie, Defoort‐Dhellemmes, Sabine, Tsang, Stephen H., Zrenner, Eberhart, Sahel, Jose‐Alain, Petersen‐Jones, Simon M., Zeitz, Christina, Audo, Isabelle
Publié dans Hum Mutat (2021)

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

par Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique
Publié 2013

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

par Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.
Publié dans Genet Med (2019)