Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Laura Hernandez-Hernandez"'
Autor:
Blake Hale, Carla Cordivari, Simona Balestrini, Antonietta Coppola, S. Krithika, Laura Hernandez-Hernandez, Sanjay M. Sisodiya, Nicholas Moran
Publikováno v:
Journal of Neurology
Idiopathic basal ganglia calcification (IBGC) or primary familial brain calcification is a rare genetic condition characterized by an autosomal dominant inheritance pattern and the presence of bilateral calcifications in the basal ganglia, thalami, c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f80a548259013de6775301bccd0e6bb
https://doi.org/10.1007/s00415-020-09821-4
https://doi.org/10.1007/s00415-020-09821-4
Autor:
Nathalie Bednarek, Hannah Stamberger, Anna Basu, Diane Doummar, Walid Fazeli, Sara Zagaglia, Rikke S. Møller, F. Lucy Raymond, S. Krithika, Andrew A Mallick, Tobias Bartolomaeus, Trine Bjørg Hammer, Sarah Weckhuysen, Manju A. Kurian, J. Helen Cross, Bryan Lynch, Alba Sanchis-Juan, Laura Hernandez-Hernandez, Sanjay M. Sisodiya, Helena Martins Custodio, Anirban Majumdar, Cyril Mignot, Dora Steel, Robert Spaull, Mary D. King, Aikaterini Vezyroglou, Kathleen M. Gorman, Boris Keren
Publikováno v:
Neurology
Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, H M, Gorman, K M, Vezyroglou, A, Møller, R S, King, M D, Hammer, T B, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, J H, Mallick, A A, Sanchis-Juan, A, Basu, A, Raymond, F L, Lynch, B J, Majumdar, A, Stamberger, H, Weckhuysen, S, Sisodiya, S M & Kurian, M A 2021, ' RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood ', Neurology, vol. 96, no. 11, pp. e1539-e1550 . https://doi.org/10.1212/WNL.0000000000011543
Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, H M, Gorman, K M, Vezyroglou, A, Møller, R S, King Frcpch, M D, Hammer, T B, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, J H, Mallick, A A, Sanchis-Juan, A, Basu, A, Raymond, F L, Lynch, B J, Majumdar, A, Stamberger, H, Weckhuysen, S, Sisodiya, S M & Kurian, M A 2021, ' RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood ', Neurology, vol. 96, no. 11, 095539, pp. e1539-e1550 . https://doi.org/10.1212/WNL.0000000000011543
Neurology, American Academy of Neurology, 2021, 96 (11), pp.e1539-e1550. ⟨10.1212/WNL.0000000000011543⟩
Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, H M, Gorman, K M, Vezyroglou, A, Møller, R S, King, M D, Hammer, T B, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, J H, Mallick, A A, Sanchis-Juan, A, Basu, A, Raymond, F L, Lynch, B J, Majumdar, A, Stamberger, H, Weckhuysen, S, Sisodiya, S M & Kurian, M A 2021, ' RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood ', Neurology, vol. 96, no. 11, pp. e1539-e1550 . https://doi.org/10.1212/WNL.0000000000011543
Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, H M, Gorman, K M, Vezyroglou, A, Møller, R S, King Frcpch, M D, Hammer, T B, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, J H, Mallick, A A, Sanchis-Juan, A, Basu, A, Raymond, F L, Lynch, B J, Majumdar, A, Stamberger, H, Weckhuysen, S, Sisodiya, S M & Kurian, M A 2021, ' RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood ', Neurology, vol. 96, no. 11, 095539, pp. e1539-e1550 . https://doi.org/10.1212/WNL.0000000000011543
Neurology, American Academy of Neurology, 2021, 96 (11), pp.e1539-e1550. ⟨10.1212/WNL.0000000000011543⟩
ObjectiveTo explore the phenotypic spectrum of RHOBTB2-related disorders and specifically to determine whether patients fulfill criteria for alternating hemiplegia of childhood (AHC), we report the clinical features of 11 affected individuals.Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b700d465b516cd7e2a3d872c10e4c3a
https://europepmc.org/articles/PMC8032376/
https://europepmc.org/articles/PMC8032376/
Autor:
Johannes R. Lemke, Thomas Dorn, Laura Hernandez-Hernandez, Giuseppe d'Orsi, Eveline Hagebeuk, Annapurna Poduri, Douglas R. NordliJr, Hélène Catenoix, Melanie Jennesson, Veronique Darmency, Kevin Rostasy, Thomas Becher, Laura Licchetta, Peter Uldall, Lysa Boissé Lomax, Bianca Berghuis, Ilona Krey, Gaetan Lesca, Anne de Saint Martin, Boudewijn Gunning, Anne Fabienne Lepine, Renske Oegema, Brigitte Ricard-Mousnier, Sarah Ferrand-Sorbets, Arnaud Biraben, Charles Deckers, An Sofie Schoonjans, Martin Zenker, Simona Balestrini, Inga Talvik, Julitta de Bellescize, Christopher J. Yuskaitis, Georg Dorfmüller, Erik H. Niks, Guillaume Achaz, Laurence Faivre, Pasquale Striano, Shifteh Sattar, Karen Müller-Schlüter, Sanjay M. Sisodiya, Caroline Nava, Pia Zacher, Fabrice Bartolomei, Kristin Lindstrom, Sophie Julia, Eric LeGuern, Thomas Cloppenborg, Rikke S. Møller, Antonio Gambardella, Mathilde Chipaux, Sara Baldassari, Pavel Krsek, Marie Line Jacquemont, Ilse Wegner, Christian Brandt, Barbora Benova, Valerio Conti, Gabrielle Rudolf, Floor E. Jansen, Edouard Hirsch, S. Krithika, Jamel Chelly, Katrien Stouffs, Daniëlle de Jong, Courtney Kiss, Tilman Polster, Eva H. Brilstra, Tommaso Pippucci, Markus Wolff, Cécile Marchal, Giovanni Crichiutti, Kees P.J. Braun, Paolo Tinuper, Stéphanie Baulac, Valentin Sander, Anne-Sophie Lebre, Nienke E. Verbeek, Anna Jansen, Francesca Bisulli, Fabienne Picard, Natasha E. Schoeler, Julien Thevenon, Marjan J. A. van Kempen, Guido Rubboli, Sarah Weckhuysen, Renzo Guerrini, Eleni Panagiotakaki, Meral Balci
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
International audience; The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7062443bf253f4f526ef6123c65feb
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02066352
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02066352
Autor:
Marialuisa Valente, Christina Fenger, Lucio Giordano, Federico Zara, Guido Rubboli, Ida Charlotte Bay Lund, Deb K. Pal, Christian Korff, Salvatore Buono, Renzo Guerrini, Sanjay M. Sisodiya, Alice Bonuccelli, Alessandro Orsini, Tobias Brünger, Sarah von Spiczak, Maria J Miranda, Michael B. Petersen, Peter Procopis, Michael F. Hammer, Ingo Helbig, Katrine M Johannesen, Tomasz Mazurczak, Pierangelo Veggiotti, Alejandra C. Encinas, Dennis Lal, Laura Hernandez-Hernandez, Silvia Masnada, Costanza Varesio, Margherita Mancardi, Antonietta Coppola, Tarja Linnankivi, Patrizia Accorsi, Thea Giacomini, Karine Lascelles, Sarah Burki, Anna-Elina Lehesjoki, Rikke S. Møller, Dorota Hoffman-Zacharska, Cristina Cereda, Melissa Rumple, Elena Gardella, Susanne Blichfeldt, Pasquale Striano, S. Krithika, Marilena Vecchi
Publikováno v:
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A-E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Objective: Pathogenic variants in SCN 8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS ) to epileptic encephalopathies with variable severity. Furthermore, a few patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83a64bd8cdd1d1626fc9ab3fb373950
http://hdl.handle.net/10138/312952
http://hdl.handle.net/10138/312952
Autor:
Johannes R. Lemke, Pia Zacher, Thomas Dorn, Laura Hernandez-Hernandez, Natasha E. Schoeler, Stéphanie Baulac, Sara Baldassari, Anne de Saint Martin, Eleni Panagiotakaki, Anne Fabienne Lepine, Markus Wolff, Arnaud Biraben, Renske Oegema, Edouard Hirsch, Anna Jansen, Charles Deckers, Nienke E. Verbeek, Fabienne Picard, Georg Dorfmüller, Sarah Ferrand-Sorbets, Barbora Benova, Francesca Bisulli, Inga Talvik, Kristin Lindstrom, Tilman Polster, Douglas R. Nordli, Tommaso Pippucci, Eva H. Brilstra, Shifteh Sattar, Erik H. Niks, Marie Line Jacquemont, Kees P.J. Braun, Karen Müller-Schlüter, Sanjay M. Sisodiya, Sarah Weckhuysen, Lysa Boissé Lomax, Sophie Julia, Brigitte Ricard-Mousnier, Mathilde Chipaux, Laura Licchetta, Gaetan Lesca, Bianca Berghuis, S. Krithika, Jamel Chelly, Renzo Guerrini, Hélène Catenoix, Annapurna Poduri, Melanie Jennesson, Pasquale Striano, Rikke S. Møller, Antonio Gambardella, Guillaume Achaz, Peter Uldall, Fabrice Bartolomei, Giuseppe d'Orsi, Laurence Faivre, Floor E. Jansen, An Sofie Schoonjans, Kevin Rostasy, Thomas Becher, Pavel Krsek, Julien Thevenon, Marjan J. A. van Kempen, Guido Rubboli, Cécile Marchal, Meral Balci, Boudewijn Gunning, Ilona Krey, Julitta de Bellescize, Veronique Darmency, Christopher J. Yuskaitis, Daniëlle de Jong, Giovanni Crichiutti, Paolo Tinuper, Katrien Stouffs, Valentin Sander, Anne-Sophie Lebre, Thomas Cloppenborg, Valerio Conti, Gabrielle Rudolf, Courtney Kiss, Eveline Hagebeuk, Caroline Nava, Eric LeGuern, Ilse Wegner, Christian Brandt, Martin Zenker, Simona Balestrini
Publikováno v:
Genetics in Medicine (2018)
Genetics in medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics In Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d’Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics in Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine, 21(2), 398. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics In Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d’Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics in Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine, 21(2), 398. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose:\ud \ud To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway.\ud \ud Methods:\ud \ud We analyzed clinical and genetic d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::981b64cbea60b6d54468d69c2530dcf1
https://archive-ouverte.unige.ch/unige:112563
https://archive-ouverte.unige.ch/unige:112563
Autor:
Fiona Farrell, Antonietta Coppola, Jonathan J. Waters, S. Krithika, Laura Hernandez-Hernandez, Deborah Morrogh, Josemir W. Sander, Sanjay M. Sisodiya, Simona Balestrini
Publikováno v:
Molecular syndromology. 9(1)
Chromosomal abnormalities are often identified in people with neurodevelopmental disorders including intellectual disability, autism, and epilepsy. Ring chromosomes, which usually involve gene copy number loss, are formed by fusion of subtelomeric or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21ff6a2411798c45f5ef1dba02f3f43f
https://pubmed.ncbi.nlm.nih.gov/29456482
https://pubmed.ncbi.nlm.nih.gov/29456482
Autor:
Laura Hernandez-Hernandez, Marien Pascual, F. Lorente, Catalina Sanz, Sergio Roa, María Isidoro-García, Asunción García-Sánchez, John M. Greally, Ignacio Dávila
Publikováno v:
Journal of Allergy and Clinical Immunology. 134:972-975
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7edbe8926632eff7f31912598301ec30
https://doi.org/10.1016/j.jaci.2014.05.015
https://doi.org/10.1016/j.jaci.2014.05.015
Autor:
G Cerutti-Müller, F. Lorente, Catalina Sanz, Laura Hernandez-Hernandez, Ignacio Dávila, Asunción García-Sánchez, Fernando Marqués-García, Elena Marcos-Vadillo, M Isidoro-García
Publikováno v:
Journal of investigational allergologyclinical immunology. 26(4)
BACKGROUND AND OBJECTIVE Vitamin A has been linked to the development of allergic diseases although its role is not fully understood, Retinoic acid (RA), a metabolite of Vitamin A, has been previously associated with the prostaglandin pathway, and PT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b2850973ff67a6391e41494a9e8e682
https://pubmed.ncbi.nlm.nih.gov/27373883
https://pubmed.ncbi.nlm.nih.gov/27373883
Autor:
Rikke S. Møller, Sarah von Spiczak, Christel Depienne, Anna-Elina Lehesjoki, Corinna Hartmann, Sanjay M. Sisodiya, Davide Mei, Anna-Kaisa Anttonen, Carla Marini, Federico Zara, Hiltrud Muhle, Marjan J. A. van Kempen, Eva H. Brilstra, Eija Hämäläinen, Sunay Usluer, Tania Djémié, Helle Hjalgrim, Pasquale Striano, Ingo Helbig, Carolien G.F. de Kovel, Peter De Jonghe, Johannes R. Lemke, Eija Gaily, Hande Caglayan, Laura Hernandez-Hernandez, Jacinta M McMahon, Ulrich Stephani, Heather C Mefford, Beatriz G. Giráldez, Caroline Nava, Eric LeGuern, Aarno Palotie, Johanna A. Jaehn, Arvid Suls, Nienke E. Verbeek, Ingrid E. Scheffer, Sarah Weckhuysen, Gemma L. Carvill, Rosa Guerrero-López, Candace T. Myers, Costin Leu, Bobby P. C. Koeleman, Elena Gennaro, Renzo Guerrini, Padhraig Gormley, José M. Serratosa
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 4(4), 457. John Wiley and Sons Inc.
Molecular genetics & genomic medicine
Djémié, T, Weckhuysen, S, von Spiczak, S, Carvill, G L, Jaehn, J, Anttonen, A-K, Brilstra, E, Caglayan, H S, de Kovel, C G, Depienne, C, Gaily, E, Gennaro, E, Giraldez, B G, Gormley, P, Guerrero-López, R, Guerrini, R, Hämäläinen, E, Hartmann, C, Hernandez-Hernandez, L, Hjalgrim, H, Koeleman, B P C, Leguern, E, Lehesjoki, A-E, Lemke, J R, Leu, C, Marini, C, McMahon, J M, Mei, D, Møller, R S, Muhle, H, Myers, C T, Nava, C, Serratosa, J M, Sisodiya, S M, Stephani, U, Striano, P, van Kempen, M J A, Verbeek, N E, Usluer, S, Zara, F, Palotie, A, Mefford, H C, Scheffer, I E, De Jonghe, P, Helbig, I, Suls, A & EuroEPINOMICS-RES Dravet working group 2016, ' Pitfalls in genetic testing : the story of missed SCN1A mutations ', Molecular Genetics & Genomic Medicine, vol. 4, no. 4, pp. 457-464 . https://doi.org/10.1002/mgg3.217
Molecular Genetics & Genomic Medicine, 4(4), 457. John Wiley and Sons Inc.
Molecular genetics & genomic medicine
Djémié, T, Weckhuysen, S, von Spiczak, S, Carvill, G L, Jaehn, J, Anttonen, A-K, Brilstra, E, Caglayan, H S, de Kovel, C G, Depienne, C, Gaily, E, Gennaro, E, Giraldez, B G, Gormley, P, Guerrero-López, R, Guerrini, R, Hämäläinen, E, Hartmann, C, Hernandez-Hernandez, L, Hjalgrim, H, Koeleman, B P C, Leguern, E, Lehesjoki, A-E, Lemke, J R, Leu, C, Marini, C, McMahon, J M, Mei, D, Møller, R S, Muhle, H, Myers, C T, Nava, C, Serratosa, J M, Sisodiya, S M, Stephani, U, Striano, P, van Kempen, M J A, Verbeek, N E, Usluer, S, Zara, F, Palotie, A, Mefford, H C, Scheffer, I E, De Jonghe, P, Helbig, I, Suls, A & EuroEPINOMICS-RES Dravet working group 2016, ' Pitfalls in genetic testing : the story of missed SCN1A mutations ', Molecular Genetics & Genomic Medicine, vol. 4, no. 4, pp. 457-464 . https://doi.org/10.1002/mgg3.217
BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adba39dfd4c08fc8ba932a54ab5f5a23
https://hdl.handle.net/11858/00-001M-0000-002B-9C61-D11858/00-001M-0000-002B-9C5F-4
https://hdl.handle.net/11858/00-001M-0000-002B-9C61-D11858/00-001M-0000-002B-9C5F-4
Autor:
M Isidoro-García, Virginia García-Solaesa, Ignacio Dávila, Laura Hernandez-Hernandez, Juana Padrón, Asunción García-Sánchez, F. Lorente, Catalina Sanz
Publikováno v:
Allergologia et Immunopathologia. 40:385-389
Tryptase is one of the main proteases located in the secretory granules of the mast cells, and is released through degranulation. It is therefore assumed to play an important role in inflammatory and allergic processes. Four genes are known to encode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907e61b8a0e4e401c1cfad594fb83906
https://doi.org/10.1016/j.aller.2012.04.004
https://doi.org/10.1016/j.aller.2012.04.004