Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Lise, Larrieu"'
Autor:
Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, Jose M. Millan, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 30-43 (2014)
Abstract We show that massively parallel targeted sequencing of 19 genes provides a new and reliable strategy for molecular diagnosis of Usher syndrome (USH) and nonsyndromic deafness, particularly appropriate for these disorders characterized by a h
Externí odkaz:
https://doaj.org/article/b950ebe4483b4138a4518e0fbe7b6143
Autor:
Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, Lise Larrieu, Mathilde Renaud, Jessica Varilh, Morgane Pointaux, David Baux, Olivier Ardouin, Charles Vangoethem, Magali Taulan, Benjamin Daumas Duport, Anne Bergougnoux, Anne-Gaelle Corbillé, Mireille Cossée, Raul Juntas Morales, Sylvie Tuffery-Giraud, Michel Koenig, Bertrand Isidor, Marie-Claire Vincent
Publikováno v:
Brain : a journal of neurology. 145(11)
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ae48c323309fe64e18d4bba23c3af0
https://pubmed.ncbi.nlm.nih.gov/35883251
https://pubmed.ncbi.nlm.nih.gov/35883251
Autor:
Claire Guissart, M. Planes, Michel Koenig, P. Damier, Steeve Genestet, W. Camu, Lise Larrieu, Cecilia Marelli, Stéphanie Badiou
Publikováno v:
Neurological Sciences
Neurological Sciences, Springer Verlag, In press, 41 (7), pp.1931-1933. ⟨10.1007/s10072-020-04341-5⟩
Neurological Sciences, In press, 41 (7), pp.1931-1933. ⟨10.1007/s10072-020-04341-5⟩
Neurological Sciences, Springer Verlag, In press, 41 (7), pp.1931-1933. ⟨10.1007/s10072-020-04341-5⟩
Neurological Sciences, In press, 41 (7), pp.1931-1933. ⟨10.1007/s10072-020-04341-5⟩
International audience; INTRODUCTION: The ALDH18A1 gene, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS), is responsible for an autosomal recessive disease with severe developmental delay; more recently, ALDH18A1 was found to be responsible
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f20bebac52b427e6f6be1a14b9dfec80
https://doi.org/10.1007/s10072-020-04341-5
https://doi.org/10.1007/s10072-020-04341-5
Autor:
Ibrahim Oncel, Haluk Topaloglu, Kristin Baraῆano, Robert S. Molday, Mireille Claustres, Lise Larrieu, Patrick Calvas, Maria Iascone, Romano Tenconi, Anna Chassevent, Michel Koenig, Mehdi Benkirane, Nesibe Eroglu-Ertugrul, Elif Acar Arslan, Alexander N Harrison, Claire Guissart
Publikováno v:
Journal of Neurology
Journal of Neurology, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
Journal of Neurology, Springer Verlag, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
Journal of Neurology, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
Journal of Neurology, Springer Verlag, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
International audience; ATP8A2-related disorders are autosomal recessive conditions that associate encephalopathy with or without hypotonia, psychomotor delay, abnormal movements, chorea, tremor, optic atrophy and cerebellar atrophy (CARMQ4). Through
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db632bf05a348a647750b4880e1af0a8
https://doi.org/10.1007/s00415-019-09579-4
https://doi.org/10.1007/s00415-019-09579-4
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
Autor:
Aleksandra Nadaj-Pakleza, Lucas Corti, Hélène Puccio, Mathieu Anheim, Jamel Chelly, Cecilia Marelli, Julien Tarabeux, Nicolas Dondaine, Nadège Diedhiou, Odile Gebus, Marilyne Almeras, Pauline Fahrer, Cécile Cauquil, Jean-Baptiste Chanson, Béatrice Lannes, Laura Robelin, Marie Claire Vincent, Mehdi Benkirane, Guillaume Taieb, Christine Tranchant, Gabrielle Rudolf, Matthieu Canuet, Andoni Echaniz-Laguna, Lise Larrieu, Solveig Montaut, Benoit Lhermitte
Publikováno v:
Journal of Neurology.
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f95fc877c929ba0614a59f2502a73ce
https://doi.org/10.1007/s00415-021-10499-5
https://doi.org/10.1007/s00415-021-10499-5
Autor:
Sylvain Vergnet, Jean Phillipe Azulay, Isabelle Meunier, Audrey Riquet, Olivier Patat, Anna Castrioto, Laurent Pasquier, Cyril Charlin, Lena Damaj, Cécile Acquaviva, Nicolas Lebouc, Bérénice Doray, Cecilia Marelli, Morgane Pointaux, Pierre Meyer, Perrine Charles, Danielle Cuntz-Shadfar, Caroline Tillikete, Frederic Villega, Cathy Lieutard-Haag, Michel Koenig, François Rivier, Idriss Bousquet, Ganaëlle Remerand, Ulrike Walther-Louvier, Clarisse Carra-Dalliere, Victoria Gonzales, Alexandre Eusebio, Brigitte Chabrol, Emilie Carme, Pierre Labauge, Adrian Degardin, Elise Brischoux-Boucher, Brice Laurens, Laurent Kremer, Giovanni Castelnovo, Mélanie Fradin, Mehdi Benkirane, Karine Nguyen, Jean-Marie Ravel, Vincent Laugel, Emilien Bernard, Claire Guissart, Cyril Goizet, Samira Sissaoui, Agathe Roubertie, Christine Francannet, Sylvie Odent, Yosra Halleb, Xavier Ayrignac, Shahram Attarian, Fabienne Ory Magne, David Geneviève, Joel Victor Fluss, Alain Verloes, Anne Rolland, Martial Mallaret, Lydia Abou Haidar, Nadia Bahi-Buisson, David Baux, Catherine Sarret, Nicolas Carrière, Christine Coubes, Mathilde Renaud, Claire Ewenczyk, Patrick Calvas, Solène Frismand, Leila Lazaro, Bertrand Isidor, Annabelle Chaussenot, Sophie Julia, Valerie Fraix, Elsa Kaphan, Tatiana Witjas, Frédérique Fluchère, Mathieu Anheim, Christine Tranchant, William Camu, Eric Thouvenot, Lise Larrieu, Eric Bieth, Ariane Choumert, Raoul Morales, Marinha Costa Moreira, Elizabeth Ollagnon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
International audience; Purpose: Diagnosis of inherited ataxia and related diseases represents a real challenge given the tremendous heterogeneity and clinical overlap of the various causes. We evaluated the efficacy of molecular diagnosis of these d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::babfbeb68f31ca6afb2b34ab5e5a2e4e
https://hal.archives-ouvertes.fr/hal-03282716
https://hal.archives-ouvertes.fr/hal-03282716
Autor:
Monika Oláhová, Michel Koenig, Hessa S Alsaif, Selina Reich, Claire Guissart, Silvia Azzarello-Burri, Ludger Schöls, Anita Rauch, Tuomo M Polvikoski, Pierre Meyer, Matthis Synofzik, Jack J Collier, Nicolas Leboucq, Fumi Suomi, François Rivier, Mina Ryten, Nuria Martinez-Lopez, Lise Larrieu, Suad Alyamani, Fowzan S Alkuraya, Angela Bahr, Souphatta Sasorith, Stephan Zuchner, Angela Pyle, Charu Deshpande, Inês A Barbosa, David Zhang, Andrew M. Schaefer, Thomas G McWilliams, Florence Piron-Prunier, Robert McFarland, Agnès Delahodde, Robert W. Taylor
Publikováno v:
The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7
Autor:
Solveig, Montaut, Nadège, Diedhiou, Pauline, Fahrer, Cécilia, Marelli, Benoit, Lhermitte, Laura, Robelin, Marie Claire, Vincent, Lucas, Corti, Guillaume, Taieb, Odile, Gebus, Gabrielle, Rudolf, Julien, Tarabeux, Nicolas, Dondaine, Matthieu, Canuet, Marilyne, Almeras, Mehdi, Benkirane, Lise, Larrieu, Jean-Baptiste, Chanson, Aleksandra, Nadaj-Pakleza, Andoni, Echaniz-Laguna, Cécile, Cauquil, Béatrice, Lannes, Jamel, Chelly, Mathieu, Anheim, Hélène, Puccio, Christine, Tranchant
Publikováno v:
Journal of neurology. 268(9)
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3f7002d60d223f8e6490c246c50d181
https://pubmed.ncbi.nlm.nih.gov/33666721
https://pubmed.ncbi.nlm.nih.gov/33666721
Autor:
Claire Guissart, Eugénie Mutez, Clarisse Carra-Dalliere, Mathieu Anheim, Danielle Cuntz-Shadfar, Adrian Degardin, Jean-Philippe Villemin, Sabrina Sacconi, Jean-Philippe Azulay, Christine Tranchant, Nicolas Pageot, Michel Koenig, Victoria Gonzalez, Xavier Ayrignac, Cécile Hubsch, Christian Geny, Claude Mignard, Dominique Chretien, Elisabeth Ollagnon, Cecilia Marelli, Cyril Goizet, Raul Juntas Morales, Bertrand Carlander, Lise Larrieu, Laurine Perrin, Mireille Claustres, Ouhaid Lagha-Boukbiza, Patrick Calvas, Anelia Benarrosh, Mathilde Renaud, Souhayla Azakri, Pierre Labauge, Patrick Collignon, Perrine Charles
Publikováno v:
Human Mutation. 37:1340-1353
Next-generation sequencing (NGS) has an established diagnostic value for inherited ataxia. However, the need of a rigorous process of analysis and validation remains challenging. Moreover, copy number variations (CNV) or dynamic expansions of repeate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f60325e5870d6593610f7db27844b41c
https://doi.org/10.1002/humu.23063
https://doi.org/10.1002/humu.23063