Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B) von Wirth, Thomas, Clément, Guillemette, Delvallée, Clarisse, Bonnet, Céline, Bogdan, Thomas, Iosif, Andra, Schalk, Audrey, Chanson, Jean-Baptiste, Pellerin, David, Brais, Bernard, Roth, Virginie, Wandzel, Marion, Fleury, Marie-Céline, Piton, Amélie, Calmels, Nadège, Namer, Izzie Jacques, Kremer, Stéphane, Tranchant, Christine, Renaud, Mathilde, Anheim, Mathieu

Volltext

Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies von Delvallée, Clarisse, Dollfus, Hélène

Volltext

Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy? von Wirth, Thomas, Bonnet, Céline, Delvallée, Clarisse, Pellerin, David, Bogdan, Thomas, Clément, Guillemette, Schalk, Audrey, Chanson, Jean-Baptiste, Fleury, Marie-Céline, Piton, Amélie, Calmels, Nadège, Namer, Izzie Jacques, Kremer, Stéphane, Brais, Bernard, Tranchant, Christine, Renaud, Mathilde, Anheim, Mathieu

Volltext

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia von Wirth, Thomas, Roze, Emmanuel, Delvallée, Clarisse, Trouillard, Oriane, Drouot, Nathalie, Damier, Philippe, Boulay, Clotilde, Bourgninaud, Marine, Jegatheesan, Prasanthi, Sangare, Aude, Forlani, Sylvie, Gaymard, Bertrand, Hervochon, Remi, Navarro, Vincent, Calmels, Nadège, Schalk, Audrey, Tranchant, Christine, Piton, Amélie, Méneret, Aurélie, Anheim, Mathieu

Volltext

Identification and Characterization of Known Biallelic Mutations in the IFT27 ( BBS19 ) Gene in a Novel Family With Bardet-Biedl Syndrome von Schaefer, Elise, Delvallée, Clarisse, Mary, Laura, Stoetzel, Corinne, Geoffroy, Véronique, Marks-Delesalle, Caroline, Holder-Espinasse, Muriel, Ghoumid, Jamal, Dollfus, Hélène, Muller, Jean

Volltext

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects von Karam, Adella, Delvallée, Clarisse, Estrada-Cuzcano, Alejandro, Geoffroy, Véronique, Lamouche, Jean-Baptiste, Leuvrey, Anne-Sophie, Nourisson, Elsa, Tarabeux, Julien, Stoetzel, Corinne, Scheidecker, Sophie, Porter, Louise Frances, Génin, Emmanuelle, Redon, Richard, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Le May, Nicolas, Dollfus, Hélène, Muller, Jean

Volltext

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome von Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne‐Sophie, Nourisson, Elsa, Leitch, Carmen C., Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean‐François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu‐Dramard, Michèle, Poitou‐Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean‐Louis, Davis, Erica E., Dollfus, Hélène, Muller, Jean

Volltext

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish von Estrada‐Cuzcano, Alejandro, Etard, Christelle, Delvallée, Clarisse, Stoetzel, Corinne, Schaefer, Elise, Scheidecker, Sophie, Geoffroy, Véronique, Schneider, Aline, Studer, Fouzia, Mattioli, Francesca, Chennen, Kirsley, Sigaudy, Sabine, Plassard, Damien, Poch, Olivier, Piton, Amélie, Strahle, Uwe, Muller, Jean, Dollfus, Hélène

Volltext

WGS Revealed Novel IBBS5/I Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects von Karam, Adella, Delvallée, Clarisse, Estrada-Cuzcano, Alejandro, Geoffroy, Véronique, Lamouche, Jean-Baptiste, Leuvrey, Anne-Sophie, Nourisson, Elsa, Tarabeux, Julien, Stoetzel, Corinne, Scheidecker, Sophie, Porter, Louise Frances, Génin, Emmanuelle, Redon, Richard, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Le May, Nicolas, Dollfus, Hélène, Muller, Jean

Volltext

Histoire naturelle et spectre phénotypique de l’ataxie cérébelleuse sporadique tardive liée à l’expansion GAA dans FGF14 (SCA27B) von Wirth, Thomas, Clément, Guillemette, Delvallée, Clarisse, Bonnet, Céline, Tranchant, Christine, Renaud, Mathilde, Anheim, Mathieu

Volltext

Les variants faux-sens rares dans KCNJ10 sont associés aux dyskinésies paroxystiques kinésigéniques von Wirth, Thomas, Flamand-Roze, Emmanuel, Delvallée, Clarisse, Orianne, Trouillard, Piton, Amélie, Méneret, Aurélie, Anheim, Mathieu

Volltext

No evidence for association between GAA-FGF14 expansion and early onset cerebellar ataxia: a study on 85 undiagnosed patients von Delvallee, Clarisse, Calmels, Nadège, Bogdan, Thomas, Tranchant, Christine, Anheim, Mathieu, Wirth, Thomas

Volltext

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome von Delvallee, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne-Sophie, Nourisson, Elsa, Leitch, Carmen C, Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Veronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean-Francois, Genin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu-Dramard, Michele, Poitou-Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean-Louis, Davis, Erica E, Dollfus, Helene, Muller, Jean

Volltext

Du génome humain au modèle murin : compréhension des ciliopathies von Delvallee, Clarisse

Volltext bestellen

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrom von Schaefer, Elise, Delvallee, Clarisse, Mary, Laura, Stoetzel, Corinne, Geoffroy, Véronique, Marks-Delesalle, Caroline, Holder-Espinasse, Muriel, Ghoumid, Jamal, Dollfus, Hélène, Muller, Jean

Volltext

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome von Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne-Sophie, Nourisson, Elsa, Leitch, Carmen C, Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean-François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu-Dramard, Michèle, Poitou-Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean-Louis, Davis, Erica E, Dollfus, Hélène, Muller, Jean

Volltext bestellen