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Page 1
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.
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.
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.
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
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.
Postirradiation spinal root cavernoma.
Labauge P, Lefloch A, Chapon F, Castelnovo G, Maubon A, Rigau V, Segnarbieux F. Labauge P, et al. Among authors: rigau v. Eur Neurol. 2006;56(4):256-7. doi: 10.1159/000096676. Epub 2006 Oct 23. Eur Neurol. 2006. PMID: 17077638 Free article. No abstract available.
French brain tumor database: 5-year histological results on 25 756 cases.
Rigau V, Zouaoui S, Mathieu-Daudé H, Darlix A, Maran A, Trétarre B, Bessaoud F, Bauchet F, Attaoua R, Fabbro-Peray P, Fabbro M, Kerr C, Taillandier L, Duffau H, Figarella-Branger D, Costes V, Bauchet L; Société Française de Neuropathologie (SFNP), Société Française de Neurochirurgie (SFNC); Club de Neuro-Oncologie of the Société Française de Neurochirurgie (CNO-SFNC); Association des Neuro-Oncologues d’Expression Française (ANOCEF). Rigau V, et al. Brain Pathol. 2011 Nov;21(6):633-44. doi: 10.1111/j.1750-3639.2011.00491.x. Epub 2011 Jul 25. Brain Pathol. 2011. PMID: 21554472 Free PMC article.
SNP array analysis reveals novel genomic abnormalities including copy neutral loss of heterozygosity in anaplastic oligodendrogliomas.
Idbaih A, Ducray F, Dehais C, Courdy C, Carpentier C, de Bernard S, Uro-Coste E, Mokhtari K, Jouvet A, Honnorat J, Chinot O, Ramirez C, Beauchesne P, Benouaich-Amiel A, Godard J, Eimer S, Parker F, Lechapt-Zalcman E, Colin P, Loussouarn D, Faillot T, Dam-Hieu P, Elouadhani-Hamdi S, Bauchet L, Langlois O, Le Guerinel C, Fontaine D, Vauleon E, Menei P, Fotso MJ, Desenclos C, Verrelle P, Ghiringhelli F, Noel G, Labrousse F, Carpentier A, Dhermain F, Delattre JY, Figarella-Branger D; POLA Network. Idbaih A, et al. PLoS One. 2012;7(10):e45950. doi: 10.1371/journal.pone.0045950. Epub 2012 Oct 10. PLoS One. 2012. PMID: 23071531 Free PMC article.
Searching for a link between the L-BMAA neurotoxin and amyotrophic lateral sclerosis: a study protocol of the French BMAALS programme.
Delzor A, Couratier P, Boumédiène F, Nicol M, Druet-Cabanac M, Paraf F, Méjean A, Ploux O, Leleu JP, Brient L, Lengronne M, Pichon V, Combès A, El Abdellaoui S, Bonneterre V, Lagrange E, Besson G, Bicout DJ, Boutonnat J, Camu W, Pageot N, Juntas-Morales R, Rigau V, Masseret E, Abadie E, Preux PM, Marin B. Delzor A, et al. Among authors: rigau v. BMJ Open. 2014 Sep 1;4(8):e005528. doi: 10.1136/bmjopen-2014-005528. BMJ Open. 2014. PMID: 25180055 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.
179 results