High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Autor: Benkirane, Mehdi, Marelli, Cecilia, Guissart, Claire, Roubertie, Agathe, Ollagnon, Elizabeth, Choumert, Ariane, Fluchère, Frédérique, Magne, Fabienne Ory, Halleb, Yosra, Renaud, Mathilde, Larrieu, Lise, Baux, David, Patat, Olivier, Bousquet, Idriss, Ravel, Jean-Marie, Cuntz-Shadfar, Danielle, Sarret, Catherine, Ayrignac, Xavier, Rolland, Anne, Morales, Raoul, Pointaux, Morgane, Lieutard-Haag, Cathy, Laurens, Brice, Tillikete, Caroline, Bernard, Emilien, Mallaret, Martial, Carra-Dallière, Clarisse, Tranchant, Christine, Meyer, Pierre, Damaj, Lena, Pasquier, Laurent, Acquaviva, Cecile, Chaussenot, Annabelle, Isidor, Bertrand, Nguyen, Karine, Camu, William, Eusebio, Alexandre, Carrière, Nicolas, Riquet, Audrey, Thouvenot, Eric, Gonzales, Victoria, Carme, Emilie, Attarian, Shahram, Odent, Sylvie, Castrioto, Anna, Ewenczyk, Claire, Charles, Perrine, Kremer, Laurent, Sissaoui, Samira, Bahi-buisson, Nadia, Kaphan, Elsa, Degardin, Adrian, Doray, Bérénice, Julia, Sophie, Remerand, Ganaëlle, Fraix, Valerie, Haidar, Lydia Abou, Lazaro, Leila, Laugel, Vincent, Villega, Frederic, Charlin, Cyril, Frismand, Solène, Moreira, Marinha Costa, Witjas, Tatiana, Francannet, Christine, Walther-Louvier, Ulrike, Fradin, Mélanie, Chabrol, Brigitte, Fluss, Joel, Bieth, Eric, Castelnovo, Giovanni, Vergnet, Sylvain, Meunier, Isabelle, Verloes, Alain, Brischoux-Boucher, Elise, Coubes, Christine, Geneviève, David, Lebouc, Nicolas, Azulay, Jean Phillipe, Anheim, Mathieu, Goizet, Cyril, Rivier, François, Labauge, Pierre, Calvas, Patrick, Koenig, Michel

Publikováno v: In Genetics in Medicine November 2021 23(11):2160-2170

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

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⟩

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

Neoadjuvant chemo/immunotherapy for the treatment of stages IIIA resectable non-small cell lung cancer (NSCLC): A phase II multicenter exploratory study—NADIM study-SLCG

Autor: Ricardo Arrabal, Alexandre Martinez Marti, Fernando Franco, Manuel Cobo, Amelia Insa, Elvira Del Barco Morillo, Guillermo Lopez-Vivanco, Rosario Garcia Campelo, Mariano Provencio-Pulla, Maria Jove, Bartomeu Massuti, Manuel Domine, Margarita Majem, Paloma Martín, Marinha Costa Rivas, Virginia Calvo, Ernest Nadal-Alforja, J. Casal, Delvys Rodriguez-Abreu, R. Bernabé

Publikováno v: Journal of Clinical Oncology. 36:8521-8521

8521Background: The combination of chemotherapy and immunotherapy (CT-IO) has a high response rate and longer survival in unselected patients (pts) with metastatic non-small cell lung cancer (NSCLC...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9f14080e622cdfd7b64d2e8bb9c2ff3d
https://doi.org/10.1200/jco.2018.36.15_suppl.8521

P2.02-029 Concomitant ChemoRadiotherapy for Locally Advanced Non-Small Cell Lung Cancer: A Phase II Study from the Galician Lung Cancer Group

Autor: Margarita Amenedo, José Luis Fírvida, Cristina Azpitarte, Javier Afonso, Joaquin Casal Rubio, Begoña Taboada, Carmen Areses, Maria Veiras, B. Campos, Elena Hernandez, Susana Gómez, Marinha Costa, Jorge Garcia, Enrique Castro, Natalia Fernandez

Publikováno v: Journal of Thoracic Oncology. 12:S864-S865

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::943ddad7f52ef7e3c2fb3933bd1638b6
https://doi.org/10.1016/j.jtho.2016.11.1176

Concurrent chemoradiation (CChRT) for locally advanced stage III non-small cell lung cancer (NSCLC) with cisplatin and vinorelbine and thoracic radiotherapy: A phase II study from the Galician Lung Cancer Group

Autor: Enrrique Castro, F.J. Afonso, Marinha Costa Rivas, Mª Carmen Areses Manrique, Susana Gomez Garcia, Noemi De Dios Alvarez, Jorge Garcia, Margarita Amenedo, Cristina Azpitarte, Joaquin Casal Rubio, Jl Firvida, B. Campos, Manuel Caeiro, Ines Formoso, Natalia Fernández Núñez, Patricia Calvo

Publikováno v: Journal of Clinical Oncology. 35:e20067-e20067

e20067 Background: Platinum-based CChRT is recommended as the evidence-based approach for the management of patients (p) with locally advanced stage III NSCLC and a good performance status, although a clearly superior regimen has not been identified.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::872281607580163029c3fd1bcdd63ca2
https://doi.org/10.1200/jco.2017.35.15_suppl.e20067