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

por Huin, Vincent, Buée, Luc, Behal, Hélène, Labreuche, Julien, Sablonnière, Bernard, Dhaenens, Claire-Marie
Publicado 2017

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

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

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

por Meunier, Isabelle, Bocquet, Béatrice, Charif, Majida, Dhaenens, Claire-Marie, Manes, Gael, Amati-Bonneau, Patrizia, Roubertie, Agathe, Zanlonghi, Xavier, Lenaers, Guy
Publicado 2021

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

por Kaltak, Melita, Blanco-Garavito, Rocio, Molday, Laurie L., Dhaenens, Claire-Marie, Souied, Eric E., Platenburg, Gerard, Swildens, Jim, Molday, Robert S., Cremers, Frans P. M.
Publicado 2023

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

por 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
Publicado 2019

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

por 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
Publicado 2018

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

por Dessein, Anne-Frédérique, Hebbar, Eléonore, Vamecq, Joseph, Lebredonchel, Elodie, Devos, Aurore, Ghoumid, Jamal, Mention, Karine, Dobbelaere, Dries, Chevalier-Curt, Marie Joncquel, Fontaine, Monique, Defoort, Sabine, Smirnov, Vassily, Douillard, Claire, Dhaenens, Claire-Marie
Publicado 2022

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

por 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
Publicado 2019

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

por Geada, Sara, Teixeira-Marques, Francisco, Teixeira, Bruno, Carvalho, Ana Luísa, Lousan, Nuno, Saraiva, Jorge, Murta, Joaquim, Silva, Rufino, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Dhaenens, Claire-Marie, Blanchet, Catherine, Meunier, Isabelle, Marques, João Pedro
Publicado 2023

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

por 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.
Publicado 2016

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms

por Mairot, Kévin, Smirnov, Vasily, Bocquet, Béatrice, Labesse, Gilles, Arndt, Carl, Defoort-Dhellemmes, Sabine, Zanlonghi, Xavier, Hamroun, Dalil, Denis, Danièle, Picot, Marie-Christine, David, Thierry, Grunewald, Olivier, Pégart, Mako, Huguet, Hélèna, Roux, Anne-Françoise, Kalatzis, Vasiliki, Dhaenens, Claire-Marie, Meunier, Isabelle
Publicado 2021

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

por Poncet, Anaïs F., Grunewald, Olivier, Vaclavik, Veronika, Meunier, Isabelle, Drumare, Isabelle, Pelletier, Valérie, Bocquet, Béatrice, Todorova, Margarita G., Le Moing, Anne-Gaëlle, Devos, Aurore, Schorderet, Daniel F., Jobic, Florence, Defoort-Dhellemmes, Sabine, Dollfus, Hélène, Smirnov, Vasily M., Dhaenens, Claire-Marie
Publicado 2022

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype–Genotype Correlation and Natural History in the Aim of Gene Therapy

por Bocquet, Béatrice, El Alami Trebki, Hicham, Roux, Anne Françoise, Labesse, Gilles, Brabet, Philippe, Arndt, Carl, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Hamroun, Dalil, Boulicot-Séguin, Céline, Lequeux, Léopoldine, Picot, Marie Christine, Huguet, Hélèna, Audo, Isabelle, Dhaenens, Claire Marie, Kalatzis, Vasiliki, Meunier, Isabelle
Publicado 2021

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

por Hitti‐Malin, Rebekkah J., Dhaenens, Claire‐Marie, Panneman, Daan M., Corradi, Zelia, Khan, Mubeen, den Hollander, Anneke I., Farrar, G. Jane, Gilissen, Christian, Hoischen, Alexander, van de Vorst, Maartje, Bults, Femke, Boonen, Erica G. M., Saunders, Patrick, Roosing, Susanne, Cremers, Frans P. M.
Publicado 2022

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

por Corradi, Zelia, Salameh, Manar, Khan, Mubeen, Héon, Elise, Mishra, Ketan, Hitti-Malin, Rebekkah J., AlSwaiti, Yahya, Aslanian, Alice, Banin, Eyal, Brooks, Brian P., Zein, Wadih M., Hufnagel, Robert B., Roosing, Susanne, Dhaenens, Claire‐Marie, Sharon, Dror, Cremers, Frans P. M., AlTalbishi, Alaa
Publicado 2022

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

por 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
Publicado 2021

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

por Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire-Marie, Cremers, Frans P.M.
Publicado 2023

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

por Peeters, Manon H. C. A, Khan, Mubeen, Rooijakkers, Anoek A. M. B, Mulders, Timo, Haer‐Wigman, Lonneke, Boon, Camiel J. F., Klaver, Caroline C. W., van den Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P. M., den Hollander, Anneke I., Dhaenens, Claire‐Marie, Collin, Rob W. J.
Publicado 2021

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

por 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.
Publicado 2016

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

por 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
Publicado 2021