Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Nadège Calmels"'
Autor:
Asma Chikhaoui, Ichraf Kraoua, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Khouloud Zayoud, Benjamin Montagne, Ridha M’rad, Sonia Abdelhak, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Youssef
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients di
Externí odkaz:
https://doaj.org/article/06396b4c7f4e41928d8dba776a10851f
Autor:
Rayanne Damaj-Fourcade, Nicolas Meyer, Cathy Obringer, Nicolas Le May, Nadège Calmels, Vincent Laugel
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Cockayne syndrome is a rare condition that encompasses a very wide spectrum of clinical severity. Mutations upstream of a transposon called PiggyBac Transposable Element Derived 3 in intron 5 of the CSB/ERCC6 gene could bring about less severe forms
Externí odkaz:
https://doaj.org/article/f8f6efcefc73456a958ad9da37a80874
Autor:
Inès Barthélémy, Nadège Calmels, Robert B. Weiss, Laurent Tiret, Adeline Vulin, Nicolas Wein, Cécile Peccate, Carole Drougard, Christophe Beroud, Nathalie Deburgrave, Jean-Laurent Thibaud, Catherine Escriou, Isabel Punzón, Luis Garcia, Jean-Claude Kaplan, Kevin M. Flanigan, France Leturcq, Stéphane Blot
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-22 (2020)
Abstract Background Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but th
Externí odkaz:
https://doaj.org/article/4db5e8aca9c9431692a8b17b3323ddbf
Autor:
Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, Alain Martelli, Nadège Vaucamps, Laurence Reutenauer, Nadia Messaddeq, Cécile Bouton, Michel Koenig, Hélène Puccio
Publikováno v:
PLoS ONE, Vol 4, Iss 7, p e6379 (2009)
BACKGROUND:Friedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron-sulfur cluster (ISC) biogenesis. Most patients are homozygous for a
Externí odkaz:
https://doaj.org/article/e20e9a7c96684b6e855d8386ef61204e
Autor:
Philip Harrer, Audrey Schalk, Masaru Shimura, Sarah Baer, Nadège Calmels, Marie Aude Spitz, Marie‐Thérèse Abi Warde, Elise Schaefer, Volker M.Sc Kittke, Yasemin Dincer, Matias Wagner, Ivana Dzinovic, Riccardo Berutti, Tatsuharu Sato, Toshihiko Shirakawa, Yasushi Okazaki, Kei Murayama, Konrad Oexle, Holger Prokisch, Volker Mall, Ivo Melčák, Juliane Winkelmann, Michael Zech
Publikováno v:
Ann. Neurol. 93, 330-335 (2023)
Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear-pore complex (NPC) gene NUP62, involved in nucleo-cytoplasmic trafficking. By querying sequencing-datasets of patients with dystonia and/or Leigh(-like) syndromes,
Autor:
M. A. Spitz, Nadège Calmels, N. Le May, Sarah Baer, Cathy Obringer, Vincent Laugel, F. Severac
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2021, 16, ⟨10.1186/s13023-021-01686-8⟩
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2021, 16, ⟨10.1186/s13023-021-01686-8⟩
Background Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from severe prenatal onset to mild a
Autor:
Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren Marks, Lydie Burglen, Diane Demailly, Phillipe Coubes, Mayte Castro‐Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Nemeth, Martin Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Beroud, Fernando Acosta, Catherine Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim
Publikováno v:
MOVEMENT DISORDERS
MOVEMENT DISORDERS, 2022, 37 (7), pp.1547-1554. ⟨10.1002/mds.29074⟩
MOVEMENT DISORDERS, 2022, 37 (7), pp.1547-1554. ⟨10.1002/mds.29074⟩
Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype
Autor:
Tania Attié-Bitach, Sarah Baer, Jamel Chelly, Romain Favre, Ferechté Razavi, Pauline Le Van Quyen, Nadège Calmels, Suzanne Chartier, Vincent Laugel, Salima El Chehadeh, Cathy Obringer, Séverine Bacrot, Maryse Bonnière, Lucile Boutaud, Maria Cristina Antal
Publikováno v:
American Journal of Medical Genetics Part A. 182:1236-1242
Cerebro-oculo-facio-skeletal syndrome (COFS) is a rare autosomal recessive neurodegenerative disease belonging to the family of DNA repair disorders, characterized by microcephaly, congenital cataracts, facial dysmorphism and arthrogryposis. Here, we
Autor:
Khouloud, Zayoud, Ichraf, Kraoua, Asma, Chikhaoui, Nadège, Calmels, Sami, Bouchoucha, Cathy, Obringer, Clément, Crochemore, Dorra, Najjar, Sinda, Zarrouk, Najoua, Miladi, Vincent, Laugel, Miria, Ricchetti, Ilhem, Turki, Houda, Yacoub-Youssef
Publikováno v:
Genes
Cockayne syndrome (CS) is a rare disease caused by mutations in ERCC6/CSB or ERCC8/CSA. We report here the clinical, genetic, and functional analyses of three unrelated patients mutated in ERCC6/CSB with a severe phenotype. After clinical examination
Autor:
Jean-Louis Guéant, Lise Larrieu, Louise Tyvaert, Mehdi Benkirane, Jean-Marie Ravel, Nadège Calmels, Fabienne Ory-Magne, Philippe Casenave, Laetitia Lambert, Nathalie Drouot, Mathieu Anheim, Christine Tranchant, Morgane Pointaux, Guillaume Pisché, Yosra Halleb, Cecilia Marelli, Claire Ewenczyk, Carine Bossenmeyer-Pourié, Bruno Leheup, Mathilde Renaud, Abderrahim Oussalah, Michel Koenig, Annabelle Chaussenot, Solène Frismand, François Tison, Céline Bonnet, Jamel Chelly, Claire Lecocq
Publikováno v:
Journal of Neurology
Journal of Neurology, Springer Verlag, 2021, 268 (5), pp.1927-1937. ⟨10.1007/s00415-020-10348-x⟩
Journal of Neurology, Springer Verlag, 2021, 268 (5), pp.1927-1937. ⟨10.1007/s00415-020-10348-x⟩
STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1 are now considered a frequent cause of cerebellar ataxia. We aimed to improve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637efe2c78a1cf1f9d85c19d40ecb50f
https://hal.archives-ouvertes.fr/hal-03359686
https://hal.archives-ouvertes.fr/hal-03359686