Microtubule-associated protein tau gene: a risk factor in human neurodegenerative diseases

by Susanna Schraen-Maschke, Claire-Marie Dhaenens, André Delacourte, Bernard Sablonnière
Published 2004-04-01

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

by Marco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, Aline Antonio, Christel Condroyer, Cécile Méjécase, Juliette Varin, Juliette Wohlschlegel, Claire-Marie Dhaenens, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Published 2019-10-01

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

by Marco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Fiona Boyard, Vanessa Démontant, Camille Andrieu, Aline Antonio, Christel Condroyer, Marine Foussard, Cécile Méjécase, Chiara Maria Eandi, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Published 2018-07-01

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

by Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman, Samuel Boury, Maéva Kyheng, Claire-Marie Dhaenens, Vincent Tiffreau, Pascal Pigny, Gilles Lebuffe, Robert Caiazzo, Sébastien Aubert, Marie Christine Vantyghem
Published 2019-02-01

Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

by Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Published 2021-06-01

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease

by Claire-Marie Dhaenens, Sylvie Burnouf, Clémence Simonin, Edwige Van Brussel, Alain Duhamel, Luc Defebvre, Cécile Duru, Isabelle Vuillaume, Cécile Cazeneuve, Perrine Charles, Patrick Maison, Sabrina Debruxelles, Christophe Verny, Hélène Gervais, Jean-Philippe Azulay, Christine Tranchant, Anne-Catherine Bachoud-Levi, Alexandra Dürr, Luc Buée, Pierre Krystkowiak, Bernard Sablonnière, David Blum
Published 2009-09-01

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes

by Béatrice Bocquet, PhD, Hicham El Alami Trebki, MD, Anne Françoise Roux, PharmD, PhD, Gilles Labesse, PhD, Philippe Brabet, PhD, Carl Arndt, MD, PhD, Xavier Zanlonghi, MD, Sabine Defoort-Dhellemmes, MD, Dalil Hamroun, PhD, Céline Boulicot-Séguin, MD, Léopoldine Lequeux, MD, Marie Christine Picot, MD, Hélèna Huguet, Isabelle Audo, MD, PhD, Claire Marie Dhaenens, PharmD, PhD, Vasiliki Kalatzis, PhD, Isabelle Meunier, MD, PhD
Published 2021-09-01