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Page 1
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
Perrin A, Juntas Morales R, Rivier F, Cances C, Walther-Louvier U, Van Goethem C, Thèze C, Lacourt D, Pégeot H, Zenagui R, Uro-Coste E, Leboucq N, Malfatti E, Delaby C, Lehmann S, Rigau V, Koenig M, Cossée M. Perrin A, et al. Among authors: rigau v. Neuromuscul Disord. 2020 Nov;30(11):877-887. doi: 10.1016/j.nmd.2020.09.032. Epub 2020 Sep 28. Neuromuscul Disord. 2020. PMID: 33127292 Free article.
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
Zenagui R, Lacourt D, Pegeot H, Yauy K, Juntas Morales R, Theze C, Rivier F, Cances C, Sole G, Renard D, Walther-Louvier U, Ferrer-Monasterio X, Espil C, Arné-Bes MC, Cintas P, Uro-Coste E, Martin Negrier ML, Rigau V, Bieth E, Goizet C, Claustres M, Koenig M, Cossée M. Zenagui R, et al. Among authors: rigau v. J Mol Diagn. 2018 Jul;20(4):533-549. doi: 10.1016/j.jmoldx.2018.04.001. Epub 2018 May 21. J Mol Diagn. 2018. PMID: 29792937 Free article.
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
François-Heude MC, Walther-Louvier U, Espil-Taris C, Beze-Beyrie P, Rivier F, Baudou E, Uro-Coste E, Rigau V, Martin Negrier ML, Rendu J, Morales RJ, Pégeot H, Thèze C, Lacourt D, Coville AC, Cossée M, Cances C. François-Heude MC, et al. Among authors: rigau v. Eur J Paediatr Neurol. 2021 Mar;31:78-87. doi: 10.1016/j.ejpn.2021.01.011. Epub 2021 Feb 17. Eur J Paediatr Neurol. 2021. PMID: 33667896
Novel dominant distal titinopathy phenotype associated with copy number variation.
Perrin A, Juntas Morales R, Chapon F, Thèze C, Lacourt D, Pégeot H, Uro-Coste E, Giovannini D, Leboucq N, Mallaret M, Lagrange E, Rigau V, Gaudon K, Richard P, Koenig M, Métay C, Cossée M. Perrin A, et al. Among authors: rigau v. Ann Clin Transl Neurol. 2021 Sep;8(9):1906-1912. doi: 10.1002/acn3.51434. Epub 2021 Jul 27. Ann Clin Transl Neurol. 2021. PMID: 34312993 Free PMC article.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, Cossée M. Juntas Morales R, et al. Among authors: rigau v. Genes (Basel). 2021 Jul 31;12(8):1199. doi: 10.3390/genes12081199. Genes (Basel). 2021. PMID: 34440373 Free PMC article.
Mitotic index, microvascular proliferation, and necrosis define 3 pathological subgroups of prognostic relevance among 1p/19q co-deleted anaplastic oligodendrogliomas.
Figarella-Branger D, Mokhtari K, Dehais C, Carpentier C, Colin C, Jouvet A, Uro-Coste E, Forest F, Maurage CA, Vignaud JM, Polivka M, Lechapt-Zalcman E, Eimer S, Viennet G, Quintin-Roué I, Aubriot-Lorton MH, Diebold MD, Loussouarn D, Lacroix C, Rigau V, Laquerrière A, Vandenbos F, Michalak S, Sevestre H, Peoch M, Labrousse F, Christov C, Kemeny JL, Chenard MP, Chiforeanu D, Ducray F, Idbaih A, Delattre JY; POLA Network. Figarella-Branger D, et al. Among authors: rigau v. Neuro Oncol. 2016 Jun;18(6):888-90. doi: 10.1093/neuonc/now085. Neuro Oncol. 2016. PMID: 27175000 Free PMC article. No abstract available.
Clinico-pathological and epigenetic heterogeneity of diffuse gliomas with FGFR3::TACC3 fusion.
Métais A, Tauziède-Espariat A, Garcia J, Appay R, Uro-Coste E, Meyronet D, Maurage CA, Vandenbos F, Rigau V, Chiforeanu DC, Pallud J, Senova S, Saffroy R, Colin C, Edjlali M, Varlet P, Figarella-Branger D; Biopathology RENOCLIP-LOC network. Métais A, et al. Among authors: rigau v. Acta Neuropathol Commun. 2023 Jan 16;11(1):14. doi: 10.1186/s40478-023-01506-z. Acta Neuropathol Commun. 2023. PMID: 36647073 Free PMC article.
FGFR1 wild-type rosette-forming glioneuronal tumours.
Le Quang M, Trinquet A, Siegfried A, de Barros A, Bauchet L, Ng S, Jecko V, Chotard G, Ollivier M, Adam G, Bonneville F, Masliah-Planchon J, Nicaise Y, Decamps C, Rigau V, Uro-Coste E. Le Quang M, et al. Among authors: rigau v. Acta Neuropathol. 2024 Aug 21;148(1):26. doi: 10.1007/s00401-024-02779-x. Acta Neuropathol. 2024. PMID: 39167187 Free PMC article. No abstract available.
Contrast enhancement in 1p/19q-codeleted anaplastic oligodendrogliomas is associated with 9p loss, genomic instability, and angiogenic gene expression.
Reyes-Botero G, Dehais C, Idbaih A, Martin-Duverneuil N, Lahutte M, Carpentier C, Letouzé E, Chinot O, Loiseau H, Honnorat J, Ramirez C, Moyal E, Figarella-Branger D, Ducray F; POLA Network. Reyes-Botero G, et al. Neuro Oncol. 2014 May;16(5):662-70. doi: 10.1093/neuonc/not235. Epub 2013 Dec 18. Neuro Oncol. 2014. PMID: 24353325 Free PMC article.
190 results