Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain B Chhin, M Hatayama, D Bozon, M Ogawa, P Schön, T Tohmonda, ... Human mutation 28 (6), 563-570, 2007 | 58 | 2007 |
Effect of 9 weeks continuous vs. interval aerobic training on plasma BDNF levels, aerobic fitness, cognitive capacity and quality of life among seniors with mild to moderate … L Enette, T Vogel, S Merle, AG Valard-Guiguet, N Ozier-Lafontaine, ... European Review of Aging and Physical Activity 17, 1-16, 2020 | 49 | 2020 |
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy H Liu, AG Giguet‐Valard, T Simonet, E Szenker‐Ravi, L Lambert, ... Human mutation 41 (12), 2167-2178, 2020 | 23 | 2020 |
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease J Mortreux, J Bacquet, A Boyer, E Alazard, R Bellance, AG Giguet-Valard, ... Journal of Human Genetics 65 (3), 313-323, 2020 | 10 | 2020 |
Gossypetin derivatives are also putative inhibitors of SARS-COV 2: Results of a computational study AG Giguet-Valard, K Raguette, S Morin, R Bellance, JS Ravin Journal ISSN 2766, 2276, 2020 | 6 | 2020 |
SOD1-related ALS with anticipation in a large family from Martinique AG Giguet-Valard, R Bellance, S Jeannin, S Duclos, P Olive, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 22 (7-8), 545-551, 2021 | 3 | 2021 |
La dystrophie musculaire de Duchenne en Martinique-État des lieux E Sarrazin, AG Valard-Giguet, F Leturcq, R Bellance médecine/sciences 34, 45-48, 2018 | 1 | 2018 |
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11. 1q11. 2 ML Vuillaume, AG Valard, N Houcinat, J Bouron, C Boucher, S Deves, ... Clinical Dysmorphology 26 (4), 231-234, 2017 | 1 | 2017 |
Antenatal description of large 4q13. 2q21. 23 deletion and outcomes AG Giguet‐Valard, C Thevenin, S Dreux, V Decatrelle, ML Juve, S Yazza, ... Molecular Genetics & Genomic Medicine 12 (2), e2397, 2024 | | 2024 |
A Caribbean case of phosphoglycerate mutase deficiency: Relevance of forearm exercise test and electroneuromyography with long exercise test in the diagnosis strategy of rare … E Sarrazin, P Laforet, S Tournier, JC Hebert, R Froissart, G Nicolas, ... Medical Reports 3, 100038, 2024 | | 2024 |
A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes AG Giguet-Valard, A Monfort, H Lucron, H Mosbah, F Boccara, C Vatier, ... Cardiogenetics 13 (4), 135-144, 2023 | | 2023 |
Capacity building in clinical and molecular characterization of rare neurodegenerative diseases through the development of a local register and improved use of bioinformatics … AG Valard-Giguet, J Véronique-Baudin, Y Duffourd, J Inamo, C Goizet, ... Journal of Global Health Reports 4, e2020003, 2020 | | 2020 |
Capacity building in clinical and molecular charac y building in clinical and molecular characterization of rare terization of rare neurodegenerativ neurodegenerative diseases … AG Valard-Giguet, J Véronique-Baudin, Y Duffourd, J Inamo, C Goizet, ... Neurodegenerative diseases (NDs) 4, 2020 | | 2020 |
An overview of Duchenne muscular dystrophy in Martinique E Sarrazin, AG Valard-Giguet, F Leturcq, R Bellance Medecine Sciences: M/S 34, 45-48, 2018 | | 2018 |