New insights into

Autor: Madeleine, Harion, Leila, Qebibo, Audrey, Riquet, Christelle, Rougeot, Alexandra, Afenjar, Catherine, Garel, Malek, Louha, Emmanuelle, Lacaze, Frédérique, Audic-Gérard, Magali, Barth, Patrick, Berquin, Dominique, Bonneau, Frédéric, Bourdain, Tiffany, Busa, Estelle, Colin, Jean-Marie, Cuisset, Vincent, Des Portes, Nathalie, Dorison, Christine, Francannet, Bénédicte, Héron, Cécile, Laroche, Marine, Lebrun, Julia, Métreau, Sylvie, Odent, Laurent, Pasquier, Yaumara Perdomo, Trujillo, Laurine, Perrin, Lucile, Pinson, François, Rivier, Sabine, Sigaudy, Christel, Thauvin-Robinet, Ulrike Walther, Louvier, Olivier, Labayle, Diana, Rodriguez, Stéphanie, Valence, Lydie, Burglen

Publikováno v: Journal of medical genetics.

In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes,We selected 53 patients with pathogenic variants onDevelopment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7c1b850603130caa7309c09f8580aeff
https://pubmed.ncbi.nlm.nih.gov/36319078

Normal intellectual skills in patients with Rhombencephalosynapsis

Autor: L. Lion-François, Juan Velazquez-Dominguez, L. Guibaud, Christelle Rougeot-Jung, Hélène Laurichesse Delmas, Emeline Peyric, Vincent des Portes, Massimiliano Rossi, Mona Massoud, Marie-France Bonnetain, O. Revol, Catherine Sarret, Anne Miret

Publikováno v: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩
European Journal of Paediatric Neurology, Elsevier, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩

Objectives Rhombencephalosynapsis (RES) is a very rare cerebellar malformation. Neurodevelopmental outcome of apparently isolated RES remains poorly documented and standardized cognitive assessment, reported in only nine published cases so far, is la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153e00d3aff3aa7921713468fe2984f3
https://hal.science/hal-03124493

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Autor: Diana Rodriguez, Nathalie Bednarek, Catherine Garel, Bénédicte Héron, Florence Riant, Marie-Laure Moutard, Sandra Chantot-Bastaraud, Isabelle Kemlin, Didier Lacombe, Diane Doummar, Laurence Faivre, Mathieu Milh, Alexandra Afenjar, Cyril Goizet, Marie-Anne Barthez, Emmanuelle Cochet, Annick Toutain, Damien Haye, Lydie Burglen, Stéphanie Robin, Pierre Sarda, Thierry Billette de Villemeur, Laurent Villard, Christelle Rougeot, Agathe Roubertie, Stéphanie Valence, Elodie Lainey, Dorothée Ville

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩
Genetics in Medicine, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩

To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify new CA genes. Singleton -exome sequencing on these 20 well-c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4246f97d204b71f709b9e71f32845e84
https://hal-amu.archives-ouvertes.fr/hal-01932802

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

Autor: Marie-Anne Cournelle, Diana Rodriguez, Myriam Abada-Bendib, Alexis Brice, Sandra Chantot-Bastaraud, Jean-François Deleuze, Alexandra Afenjar, Giovanni Stevanin, Marie Coutelier, Alexandra Durr, Delphine Héron, Christelle Rougeot, Delphine Bacq, Lydie Burglen, Mathieu Milh, Vincent Meyer, Emeline Mundwiller, Annick Toutain

Publikováno v: Neurology. 84:1751-1759

Objectives: In a large family of Algerian origin, we aimed to identify the genetic mutation segregating with simultaneous presence of adult-onset, paucisymptomatic, slowly progressive, cerebellar ataxia in 7 adults and congenital ataxia in 1 child, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a273de22427d3a2babf1e8e27ed2b50c
https://doi.org/10.1212/wnl.0000000000001524

A new intellectual disability syndrome caused byCTNNB1haploinsufficiency

Autor: Patrick Edery, Christelle Rougeot, Audrey Labalme, Estelle Dubruc, Damien Sanlaville, Audrey Putoux

Publikováno v: American Journal of Medical Genetics Part A. 164:1571-1575

A girl patient born to healthy nonconsanguineous parents was referred at age 3 years and 2 months to our genetics department for testing due to developmental delay and postnatal microcephaly. Initial clinical evaluation revealed an overall developmen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38df03ab468014a09aa638eedd38cb36
https://doi.org/10.1002/ajmg.a.36484