Zobrazeno 1 - 10
of 46
pro vyhledávání: '"L, Gauquelin"'
Akademický článek
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Autor:
J A Kroes, R Alfonso-Cristancho, A T Bansal, E Berret, K Bieksiene, A Bourdin, L Brussino, D Canhoto, C Cardini, G Celik, Z Csoma, B Dahlén, E Damadoğlu, K Eger, L Gauquelin, B Gemicioglu, O Goksel, S Graff, E Heffler, H B Hofstee, P Howarth, R Jakes, F Jaun, V Kalinauskaite-Zukauske, P Kopač, N Kwon, C C Loureiro, V Lozoya García, M Masoli, M Paula Rezelj, L Pérez De Llano, S Popović-Grle, D Ramos-Barbon, A Sà Sousa, K Samitas, F Schleich, C Sirena, S Skrgat, E Zervas, G Zichnalis, E H Bel, J K Sont, S Hashimoto, A Ten Brinke
Publikováno v:
05.01 - Airway pharmacology and treatment.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50cf1a930ed432a612e9f7fee0216b60
https://doi.org/10.1183/13993003.congress-2022.4340
https://doi.org/10.1183/13993003.congress-2022.4340
Akademický článek
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Autor:
G. Devouassoux, C. Chenivesse, A. Bourdin, G. Garcia, C. Pison, A. Boudjemaa, P. Bonniaud, P. Chanez, P. Roux, A. Beurnier, C. Maurer, J.M. Perotin-Collard, N. Freymond, T. Didi, C. Tcherakian, M. Russier, E. Popin-Meyer, L. Gauquelin, S. Guillo, C. Estellat, C. Taillé
Publikováno v:
Revue des Maladies Respiratoires Actualités. 14:42-43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cfc63ccd47cc86a224fc1ca28d47dfc3
https://doi.org/10.1016/j.rmra.2021.11.519
https://doi.org/10.1016/j.rmra.2021.11.519
Kniha
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Publikováno v:
Revue d'Épidémiologie et de Santé Publique. 68:S102-S103
Introduction Arreter la consommation de tabac ou d’alcool a l’annonce du cancer permettrait d’optimiser l’efficacite et la tolerance des traitements. La reduction de ces consommations serait egalement susceptible d’affecter favorablement la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01fc236a6af70d2daf9a1e2183531910
https://doi.org/10.1016/j.respe.2020.03.011
https://doi.org/10.1016/j.respe.2020.03.011
Autor:
Bernhard Weschke, Geneviève Bernard, Diane Forget, Wolfgang Koehler, Quinten Waisfisz, Desirée E.C. Smith, Gajja S. Salomons, Hanna Mierzewska, Nicole I. Wolf, Isabelle Thiffault, Benoit Coulombe, L Gauquelin, Marisa I. Mendes, Aida Lemes, Iris Marquardt, Mariana Gutierrez Salazar, Kether Guerrero, Luan T. Tran, Marjo S. van der Knaap, Marie-Soleil Gauthier, Cas Simons
Publikováno v:
Mendes, M I, Salazar, M G, Guerrero, K, Thiffault, I, Salomons, G S, Gauquelin, L, Tran, L T, Forget, D, Gauthier, M-S, Waisfisz, Q, Smith, D E C, Simons, C, van der Knaap, M S, Marquardt, I, Lemes, A, Mierzewska, H, Weschke, B, Koehler, W, Coulombe, B, Wolf, N I & Bernard, G 2018, ' Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy ', American journal of human genetics, vol. 102, no. 4, pp. 676-684 . https://doi.org/10.1016/j.ajhg.2018.02.011
American Journal of Human Genetics, 102(4), 676-684. Cell Press
American journal of human genetics, 102(4), 676-684. Cell Press
Mendes, M I, Gutierrez Salazar, M, Guerrero, K, Thiffault, I, Salomons, G S, Gauquelin, L, Tran, L T, Forget, D, Gauthier, M S, Waisfisz, Q, Smith, D E C, Simons, C, van der Knaap, M S, Marquardt, I, Lemes, A, Mierzewska, H, Weschke, B, Koehler, W, Coulombe, B, Wolf, N I & Bernard, G 2018, ' Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy ', American Journal of Human Genetics, vol. 102, no. 4, pp. 676-684 . https://doi.org/10.1016/j.ajhg.2018.02.011
American Journal of Human Genetics, 102(4), 676-684. Cell Press
American journal of human genetics, 102(4), 676-684. Cell Press
Mendes, M I, Gutierrez Salazar, M, Guerrero, K, Thiffault, I, Salomons, G S, Gauquelin, L, Tran, L T, Forget, D, Gauthier, M S, Waisfisz, Q, Smith, D E C, Simons, C, van der Knaap, M S, Marquardt, I, Lemes, A, Mierzewska, H, Weschke, B, Koehler, W, Coulombe, B, Wolf, N I & Bernard, G 2018, ' Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy ', American Journal of Human Genetics, vol. 102, no. 4, pp. 676-684 . https://doi.org/10.1016/j.ajhg.2018.02.011
Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development. They are diagnosed on the basis of both clinical and MRI features followed by genetic confirmation. Here, we report on four unr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9444ea60515031288d63514a99f372e2
https://research.vumc.nl/en/publications/567b022d-5a89-4033-9732-cc2d43be84b8
https://research.vumc.nl/en/publications/567b022d-5a89-4033-9732-cc2d43be84b8
Autor:
S, Perrier, L, Gauquelin, M, Tétreault, L T, Tran, N, Webb, M, Srour, J J, Mitchell, C, Brunel-Guitton, J, Majewski, V, Long, S, Keller, M J, Gambello, C, Simons, A, Vanderver, G, Bernard
Publikováno v:
Clinical genetics. 93(2)
Deficiencies of mitochondrial respiratory chain complex I frequently result in leukoencephalopathy in young patients, and different mutations in the genes encoding its subunits are still being uncovered. We report 2 patients with cystic leukoencephal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b3bae9466c33b045e3f2b8aea73d98b6
https://pubmed.ncbi.nlm.nih.gov/28857146
https://pubmed.ncbi.nlm.nih.gov/28857146
Autor:
Ferdy K. Cayami, L Gauquelin, Dagmar Timmann, Marjo S. van der Knaap, Stefano D'Arrigo, László Sztriha, Nivedita Thakur, Gessica Vasco, Geneviève Bernard, Heike Philippi, Nicole I. Wolf, Richard Webster, Bart P.C. van de Warrenburg, François Hocke, Julia Rankin, Enrico Bertini, Adeline Vanderver, Abhijit Dixit, Penny Fallon, Kara Stuart Lewis, Dmitriy Niyazov, Sébastien Fribourg, Luan T. Tran, Trine Prescott, Rosalina M. L. van Spaendonk, Michael C. Kruer, Richard E. Person, Grace Yoon, Cyril Goizet, Eva Lai-Wah Fung, Isabelle Thiffault, Davide Tonduti, Evangeline Wassmer, Suvasini Sharma, Meriel McEntagart, Kether Guerrero, Claire Searle, Ddd Study
Publikováno v:
Neurology. Genetics, 5, 6
Neurology: Genetics
Neurology. Genetics, 5
Neurology: Genetics
Neurology. Genetics, 5
ObjectiveTo determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants.MethodsA cross-sectional observational study involving 25 centers wo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3eeee784f1e83f602c5ecec093bb9d1
https://doi.org/10.1212/nxg.0000000000000369
https://doi.org/10.1212/nxg.0000000000000369
Autor:
Kether Guerrero, Claire Searle, L Gauquelin, Adeline Vanderver, Geneviève Bernard, Isabelle Thiffault, Dmitriy Niyazov, KS Lewis, Meriel McEntagart, Suvasini Sharma, Nicole I. Wolf, Dagmar Timmann, Davide Tonduti, E. Bertini, F Hocke, Julia Rankin, Richard Webster, Richard E. Person, Heike Philippi, P Fallon, Evangeline Wassmer, Stefano D'Arrigo, Gessica Vasco, Abhijit Dixit, El Fung, Sébastien Fribourg, R.M.L. van Spaendonk, van der Knaap, B van de Warrenburg, Ferdy K. Cayami, Grace Yoon, László Sztriha, MC Kruer, N Thakur, Cyril Goizet, Ddd Study, Trine Prescott, Luan T. Tran
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:S34
Background: Biallelic variants in POLR1C are associated with POLR3-related leukodystrophy (POLR3-HLD), or 4H leukodystrophy (Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism), and Treacher Collins syndrome (TCS). The clinical spectrum of PO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::857d6ad445b93fbd51460d5262333086
https://doi.org/10.1017/cjn.2019.175
https://doi.org/10.1017/cjn.2019.175