Pests, diseases, and aridity have shaped the genome of Corymbia citriodora

Autor: Brad M. Potts, Orzenil B. Silva-Junior, Jerry Jenkins, Robert J Henry, David J. Lee, Avinash Sreedasyam, Graham J.W. King, Hope Hundley, Adam Healey, Kerrie Barry, Jules S. Freeman, Jeremy Schmutz, Shengqiang Shu, Blake A. Simmons, Jane Grimwood, René E. Vaillancourt, Jakob B. Butler, Agnelo Furtado, Dario Grattapaglia, Abdul Baten, John T. Lovell, Mervyn Shepherd

Publikováno v: Communications biology, vol 4, iss 1
Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)
Repositório Institucional da EMBRAPA (Repository Open Access to Scientific Information from EMBRAPA-Alice)
Empresa Brasileira de Pesquisa Agropecuária (Embrapa)
instacron:EMBRAPA
Communications Biology

Corymbia citriodora is a member of the predominantly Southern Hemisphere Myrtaceae family, which includes the eucalypts (Eucalyptus, Corymbia and Angophora; ~800 species). Corymbia is grown for timber, pulp and paper, and essential oils in Australia,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518100eefdd181ddf542fc07b1673967
https://escholarship.org/uc/item/5t51515k

The genome of the seagrass Zostera marina reveals angiosperm adaptation to the sea

Autor: Thierry Tonon, Jeremy Schmutz, Yao-Cheng Lin, Mats Töpel, Rolf Lohaus, Emanuela Dattolo, Christoffer Boström, Hope Tice, Anna R. Kersting, Jerry Jenkins, Erich Bornberg-Bauer, Pamela J. Green, Jane Grimwood, Florian Maumus, Gabriele Procaccini, Bram Verhelst, Simon M. Dittami, Emanuele De Paoli, Janina Brakel, Mojgan Amirebrahimi, Amy Mraz, Gurvan Michel, Jonas Collén, Mansi Chovatia, Kevin Vanneste, Chiara Lauritano, Alexander Jueterbock, Till Bayer, Pierre Rouzé, Thorsten B. H. Reusch, Gareth A. Pearson, Jeanine L. Olsen, Wytze T. Stam, Yves Van de Peer, Carlos M. Duarte

Publikováno v: Nature, 530, 331-335. Nature Publishing Group
Nature, vol 530, iss 7590
Nature
Nature, Nature Publishing Group, 2016, 530 (7590), pp.331-335. ⟨10.1038/nature16548⟩
NATURE
Nature, 2016, 530 (7590), pp.331-335. ⟨10.1038/nature16548⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature, 530 . pp. 331-335.

Seagrasses colonized the sea on at least three independent occasions to form the basis of one of the most productive and widespread coastal ecosystems on the planet. Here we report the genome of Zostera marina (L.), the first, to our knowledge, marin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c72b43a2464c8a9074e4d73e5e4c4c0
https://research.rug.nl/en/publications/30edb982-cd4b-461c-884b-649c8e2d2d7b

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Autor: Laura J. Scott, Bernie Devlin, Steven A. McCarroll, James S. Sutcliffe, Stefan Herms, Yunjung Kim, Richard O. Day, Thomas F. Wienker, Frank Dudbridge, I. Nicol Ferrier, Bettina Konte, Marta Ribasés, C. Robert Cloninger, Brenda W.J.H. Penninx, Detelina Grozeva, Herbert Roeyers, Peter Holmans, Colm O'Dushlaine, Scott D. Gordon, Sarah E. Bergen, Fan Meng, Morten Mattingsdal, Hugh Gurling, Ina Giegling, Gerard van Grootheest, Ania Korszun, Markus J. Schwarz, George Kirov, Sebastian Zöllner, Kenneth S. Kendler, Nicholas G. Martin, Michael Conlon O'Donovan, Michael C. Neale, Jim van Os, Aravinda Chakravarti, Timothy W. Yu, Mikael Landén, Inez Myin-Germeys, Markus M. Nöthen, Kathryn Roeder, James B. Potash, Alan W. McLean, Louise Gallagher, Anna K. Kähler, Thomas Bettecken, Nigel Williams, Frank Bellivier, Joseph D. Buxbaum, Derek W. Morris, Susan L. Smalley, Jung-Ying Tzeng, Martin Schalling, Douglas M. Ruderfer, Caroline M. Nievergelt, T. Scott Stroup, David H. Ledbetter, Jennifer Crosbie, Anita Thapar, Barbara Franke, Jeffrey A. Lieberman, Huda Akil, Miguel Casas, Daniel H. Geschwind, Paul Cormican, Bertram Müller-Myhsok, Lyudmila Georgieva, Robert Krasucki, Martin Hautzinger, Alysa E. Doyle, Cinnamon S. Bloss, Gerard D. Schellenberg, Todd Lencz, Melvin G. McInnis, Catalina Betancur, Josep Antoni Ramos-Quiroga, Stephen Sanders, Eftichia Duketis, Don H. Linszen, Matthew W. State, Richard M. Myers, Soumya Raychaudhuri, Lizzy Rossin, Howard J. Edenberg, Michael E. Goddard, S. Hong Lee, Elisabeth B. Binder, Pablo V. Gejman, William A. Scheftner, Wolfgang Maier, Judith A. Badner, Christel M. Middeldorp, Maria Helena Pinto de Azevedo, Johannes H. Smit, Willem A. Nolen, Lieuwe de Haan, Gonneke Willemsen, Keith Matthews, Ellen M. Wijsman, Jennifer K. Lowe, Rebecca McKinney, Magdalena Gross, Dorothy E. Grice, James A. Knowles, Andrew C. Heath, Jana Strohmaier, Vishwajit L. Nimgaonkar, William Byerley, William E. Bunney, Dan E. Arking, Andrew McQuillin, William M. McMahon, Manuel Mattheisen, Hans-Christoph Steinhausen, Joseph Biederman, Guy A. Rouleau, James J. McGough, Sian Caesar, Edward M. Scolnick, Lefkos T. Middleton, Jack D. Barchas, Ian B. Hickie, Danyu Lin, Patrik K. E. Magnusson, Douglas Blackwood, Francis J. McMahon, Ingrid Agartz, Elena Maestrini, Marian L. Hamshere, Lindsey Kent, Walter J. Muir, Stephan Ripke, Lydia Krabbendam, Christine Fraser, Maria Hipolito, Louise Frisén, Eric Fombonne, Emma M. Quinn, Michael Bauer, Richard P. Ebstein, Michael Steffens, Jordan W. Smoller, Stanley J. Watson, Michael Boehnke, Philip Asherson, Agatino Battaglia, Elliot S. Gershon, Russell Schachar, Marcus Ising, Peng Zhang, Margaret A. Pericak-Vance, Joachim Hallmayer, Sean Ennis, Radhika Kandaswamy, René S. Kahn, Susanne Hoefels, Thomas W. Mühleisen, Pamela Sklar, Paul Lichtenstein, Verneri Anttila, Michael L. Cuccaro, Florian Holsboer, René Breuer, Eric M. Morrow, Vinay Puri, Naomi R. Wray, Szabocls Szelinger, Sabine M. Klauck, John B. Vincent, Shrikant Mane, Aribert Rothenberger, Marion Friedl, Ian Jones, Khalid Choudhury, Michael R. Barnes, Adebayo Anjorin, Edwin H. Cook, William Lawson, Allan H. Young, Lambertus Klei, Bryan J. Mowry, Johannes Schumacher, Michael Gill, James L. Kennedy, Marcella Rietschel, Aiden Corvin, Henrik B. Rasmussen, Susmita Datta, Kimberly Chambert, Daniel Moreno-De-Luca, Benjamin S. Pickard, Stan F. Nelson, Veronica J. Vieland, Stephen W. Scherer, Peter M. Visscher, John Strauss, Andreas Reif, Andrew D. Paterson, Ann Olincy, Phoenix Kwan, Anthony J. Bailey, Patrick F. Sullivan, Pierandrea Muglia, Gunnar Morken, Susanne Lucae, Ayman H. Fanous, Jacob Lawrence, Donald J. MacIntyre, Nancy G. Buccola, Rita M. Cantor, Christina M. Hultman, Weihua Guan, Anthony P. Monaco, Jouke-Jan Hottenga, Elaine Kenny, Jianxin Shi, Dale R. Nyholt, Kevin A. McGhee, Falk W. Lohoff, Jonna Kuntsi, Niklas Långström, John I. Nurnberger, Nelson B. Freimer, Erin N. Smith, John P. Rice, Michael T. Murtha, Thomas H. Wassink, Alexandre A. Todorov, Edmund J.S. Sonuga-Barke, Dan Rujescu, Roy H. Perlis, John S. Witte, Christopher A. Walsh, Matthew C. Keller, Pamela B. Mahon, Patrick J. McGrath, Susan L. Santangelo, Annette M. Hartmann, Ole A. Andreassen, Tatiana Foroud, Shaun Purcell, Josef Frank, Douglas F. Levinson, William Coryell, Ana Miranda, Alan F. Schatzberg, Peter Szatmari, Jun Li, Gerome Breen, Stephen V. Faraone, Anil K. Malhotra, Helena Medeiros, Martin A. Kohli, Nicholas Bass, Catherine Lord, Peter Propping, Wei Xu, Federica Tozzi, Ivan Nikolov, Jan K. Buitelaar, Thomas G. Schulze, Katherine Gordon-Smith, Michele L. Pergadia, Fritz Poustka, Valentina Moskvina, David Curtis, Tobias Banaschewski, Devin Absher, Danielle Posthuma, Stanley Zammit, Gary Donohoe, Ingrid Melle, Karola Rehnström, Thomas Hansen, Myrna M. Weissman, Stanley I. Shyn, Hakon Hakonarson, Christa Lese Martin, Digby Quested, Darina Czamara, Jeremy R. Parr, Pamela A. F. Madden, Jens Treutlein, Aarno Palotie, Robert Freedman, Sandra Meier, Bru Cormand, Nicholas J. Schork, Michele T. Pato, John R. Kelsoe, Vanessa Hus, Frans G. Zitman, Josephine Elia, David St Clair, Roel A. Ophoff, Peter McGuffin, Jonathan Pimm, Jonathan L. Haines, Wiepke Cahn, Matthew Flickinger, Steven P. Hamilton, Michael John Owen, Paul D. Shilling, Jeremy M. Silverman, David Craig, Mark J. Daly, Sarah E. Medland, Robert D. Oades, Marion Leboyer, Alan R. Sanders, Vihra Milanova, Chunyu Liu, Jobst Meyer, Dorret I. Boomsma, Evaristus A. Nwulia, Thomas B. Barrett, Jennifer L. Moran, Donald W. Black, Mònica Bayés, Witte J.G. Hoogendijk, Franziska Degenhardt, Benjamin M. Neale, Daniel L. Koller, Carlos N. Pato, Nicholas John Craddock, Richard Bruggeman, Enda M. Byrne, Edward G. Jones, Eco J. C. de Geus, Stéphane Jamain, Jubao Duan, Anne Farmer, Astrid M. Vicente, Grant W. Montgomery, Thomas Werge, Cathryn M. Lewis, Srdjan Djurovic, Phil Lee, Richard Anney, Elaine K. Green, Wade H. Berrettini, Peter P. Zandi, Susan L. Slager, Stephanie H. Witt, Ian W. Craig, Lisa Jones, Sven Cichon, Bruno Etain, Mark Lathrop, Hilary Coon, Robert C. Thompson, Lena Backlund, A. Jeremy Willsey, Andres Ingason, Christine M. Freitag, Sandra K. Loo, Guiomar Oliveira, Line Olsen, Edwin J. C. G. van den Oord, Geraldine Dawson, Joseph A. Sergeant, David A. Collier, Farooq Amin, Srinivasa Thirumalai, Manfred Uhr, Joseph Piven, Andrew M. McIntosh, Anjali K. Henders, Urban Ösby, Klaus-Peter Lesch, Tiffany A. Greenwood

Publikováno v: Nature Genetics
Nature Genetics, 45(9), 984-+. Nature Publishing Group
Nature Genetics, 2013, 45 (9), pp.984-994. ⟨10.1038/ng.2711⟩
Nature Genetics, 45(9), 984-994. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2013, 45 (9), pp.984-94. ⟨10.1038/ng.2711⟩
Nature genetics, 45(9), 984-994. Nature Publishing Group
Lee, S H, Ripke, S, Neale, B M, Faraone, S V, Purcell, S M, Perlis, R H, Mowry, B J, Thapar, A, Goddard, M E, Witte, J S, Absher, D, Agartz, I, Akil, H, Amin, F, Andreassen, O A, Anjorin, A, Anney, R, Anttila, V, Arking, D E, Asherson, P, Azevedo, M H, Backlund, L, Badner, J A, Bailey, A J, Banaschewski, T, Barchas, J D, Barnes, M R, Barrett, T B, Bass, N, Battaglia, A, Bauer, M, Bayés, M, Bellivier, F, Bergen, S E, Berrettini, W, Betancur, C, Bettecken, T, Biederman, J, Binder, E B, Black, D W, Blackwood, D H R, Bloss, C S, Boehnke, M, Boomsma, D I, Breen, G, Breuer, R, Bruggeman, R, Cormican, P, Mattheisen, M, Meier, S & Cross-Disorder Group of the Psychiatric Genomics Consortium 2013, ' Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs ', Nature Genetics . https://doi.org/10.1038/ng.2711
Nature Genetics, 45, 984-994
NATURE GENETICS
Lee, S H, Ripke, S, Neale, B, Faraone, S V, Purcell, S M, Perlis, R H, Mowry, B J, Thapar, A, Goddard, M E, Witte, J S, Absher, D, Agartz, I, Akil, H, Amin, F, Andreassen, O A, Anjorin, A, Anney, R, Anttila, V, Arking, D E, Asherson, P, Azevedo, M H, Backlund, L, Badner, J A, Bailey, A J, Banaschewski, T, Barchas, J D, Barnes, M R, Barrett, T B, Bass, N, Battaglia, A, Bauer, M, Bayés, M, Bellivier, F, Bergen, S E, Berrettini, W, Betancur, C, Bettecken, T, Biederman, J, Binder, E B, Black, D W, Blackwood, D H, Bloss, C S, Boehnke, M, Boomsma, D I, Breen, G, Breuer, R, Bruggeman, R, Cormican, P, Buccola, N G, Buitelaar, J K, Bunney, W E, Buxbaum, J D, Byerley, W F, Byrne, E M, Caesar, S, Cahn, W, Cantor, R M, Casas, M, Chakravarti, A, Chambert, K, Choudhury, K, Cichon, S, Cloninger, C R, Collier, D A, Cook, E H, Coon, H, Corman, B, Corvin, A, Coryell, W H, Craig, D W, Craig, I W, Crosbie, J, Cuccaro, M L, Curtis, D, Czamara, D, Datta, S, Dawson, G, Day, R, de Geus, E J C, Degenhardt, F, Djurovic, S, Donohoe, G, Doyle, A E, Duan, J, Dudbridge, F, Duketis, E, Ebstein, R P, Edenberg, H J, Elia, J, Ennis, S, Etain, B, Fanous, A, Farmer, A E, Ferrier, I N, Flickinger, M, Fombonne, E, Foroud, T, Frank, J, Franke, B, Fraser, C, Freedman, R, Freimer, N B, Freitag, C, Friedl, M, Frisén, L, Gallagher, L, Gejman, P V, Georgieva, L, Gershon, E S, Geschwind, D H, Giegling, I, Gill, M, Gordon, S D, Gordon-Smith, K, Green, E K, Greenwood, T A, Grice, D E, Gross, M, Grozeva, D, Guan, W, Gurling, H, de Haan, L, Haines, J L, Hakonarson, H, Hallmayer, J, Hamilton, S P, Hamshere, M L, Hansen, T F, Hartmann, A M, Hautzinger, M, Heath, A C, Henders, A K, Herms, S, Hickie, I B, Hipolito, M, Hoefels, S, Holmans, P A, Holsboer, F, Hoogendijk, W J G, Hottenga, J J, Hultman, C M, Hus, V, Ingason, A, Ising, M, Jamain, S, Jones, E G, Jones, I, Jones, L, Tzeng, J Y, Kähler, A K, Kahn, R S, Kandaswamy, R, Keller, M C, Kennedy, J L, Kenny, E, Kent, L, Kim, Y, Kirov, G K, Klauck, S M, Klei, L, Knowles, J A, Kohli, M A, Koller, D L, Konte, B, Korszun, A, Krabbendam, L, Krasucki, R, Kuntsi, J, Kwan, P, Landén, M, Langstrom, N, Lathrop, M, Lawrence, J, Lawson, W B, Leboyer, M, Ledbetter, D H, Lee, P H, Lencz, T, Lesch, K P, Levinson, D F, Lewis, C M, Li, J, Lichtenstein, P, Lieberman, J A, Lin, D Y, Linszen, D H, Liu, C, Lohoff, F W, Loo, S K, Lord, C, Lowe, J K, Lucae, S, MacIntyre, D J, Madden, P A F, Maestrini, E, Magnusson, P K E, Mahon, P B, Maier, W, Malhotra, A K, Mane, S M, Martin, C L, Martin, N G, Mattheisen, M, Matthews, K, Mattingsdal, M, McCarroll, S A, McGhee, K A, McGough, J J, McGrath, P J, McGuffin, P, McInnis, M G, McIntosh, A, McKinney, R, McLean, A W, McMahon, F J, McMahon, W M, McQuillin, A, Medeiros, H, Medland, S E, Meier, S, Melle, I, Meng, F, Meyer, J, Middeldorp, C M, Middleton, L, Milanova, V, Miranda, A, Monaco, A P, Montgomery, G W, Moran, J L, Moreno-De Luca, D, Morken, G, Morris, D W, Morrow, E M, Moskvina, V, Muglia, P, Mühleisen, T W, Muir, W J, Müller-Myhsok, B, Murtha, M, Myers, R M, Myin-Germeys, I, Neale, M C, Nelson, S F, Nievergelt, C M, Nikolov, I, Nimgaonkar, V L, Nolen, W A, Nöthen, M M, Nurnberger, J I, Nwulia, E A, Nyholt, DR, O'Dushlaine, C, Oades, R D, Olincy, A, Oliveira, G, Olsen, L, Ophoff, R A, Osby, U, Owen, M J, Palotie, A, Parr, J R, Paterson, A D, Pato, C N, Pato, M T, Penninx, B W J H, Pergadia, M L, Pericak-Vance, M A, Pickard, B S, Pimm, J, Piven, J, Posthuma, D, Potash, J B, Poustka, F, Propping, P, Puri, V, Quested, D, Quinn, E M, Ramos-Quiroga, J A, Rasmussen, H B, Raychaudhuri, S, Rehnström, K, Reif, A, Ribasés, M, Rice, J P, Rietschel, M, Roeder, K, Roeyers, H, Rossin, L, Rothenberger, A, Rouleau, G, Ruderfer, D, Rujescu, D, Sanders, A R, Sanders, S J, Santangelo, S, Sergeant, J A, Schachar, R, Schalling, M, Schatzberg, A F, Scheftner, W A, Schellenberg, G D, Scherer, S W, Schork, N J, Schulze, T G, Schumacher, J, Schwarz, M, Scolnick, E, Scott, L J, Shi, J, Shilling, P D, Shyn, S I, Silverman, J M, Slager, S L, Smalley, S L, Smit, J H, Smith, E N, Sonuga-Barke, E J, St Clair, D, State, M, Steffens, M, Steinhausen, H C, Strauss, J, Strohmaier, J, Stroup, T S, Sutcliffe, J, Szatmari, P, Szelinger, S, Thirumalai, S, Thompson, R C, Todorov, A A, Tozzi, F, Treutlein, J, Uhr, M, van den Oord, E J C G, Grootheest, G, van Os, J, Vicente, A, Vieland, V, Vincent, J B, Visscher, P M, Walsh, C A, Wassink, T H, Watson, S J, Weissman, M M, Werge, T, Wienker, T F, Wijsman, E M, Willemsen, G, Williams, N, Willsey, A J, Witt, S H, Xu, W, Young, A H, Yu, T W, Zammit, S, Zandi, P P, Zhang, P, Zitman, F G, Zöllner, S, Devlin, B, Kelsoe, J, Sklar, P, Daly, M J, O'Donovan, M C, Craddock, N, Sullivan, P F, Smoller, J W, Kendler, K S & Wray, N R 2013, ' Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs ', Nature Genetics, vol. 45, no. 9, pp. 984-994 . https://doi.org/10.1038/ng.2711
Cross-Disorder Group of the Psychiatric Genomics Consortium 2013, ' Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs ', Nature Genetics, vol. 45, no. 9, pp. 984-94 . https://doi.org/10.1038/ng.2711
Nature Genetics, 45, 9, pp. 984-994
Nature Genetics, 45(9), 984

AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4725af2eae994b1cf613105f4b0872c9
https://hdl.handle.net/11858/00-001M-0000-0019-05F2-911858/00-001M-0000-0019-05FB-8

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Autor: Rhonda E. Schnur, Fabio Sirchia, Olga Levchenko, Caroline Nava, Jane Juusola, Sarah Verheyen, Marketa Vlckova, Lindsay Rhodes, Gregory M. Cooper, Darina Prchalova, Thomas Courtin, Øystein L. Holla, David Kronn, Akemi J. Tanaka, E. Martina Bebin, Tara Funari, Miroslava Hancarova, Ennio Del Giudice, Nicolas Guex, Astrid Eisenkölbl, Dawn L. Earl, Toshiki Takenouchi, Ursula Gruber-Sedlmayr, Sedlácek Z, Sofia Douzgou, Heidelis A. Seebacher, Gerarda Cappuccio, Jasmin Blatterer, Anna Mikhaleva, Dian Donnai, Wendy K. Chung, Else Merckoll, Natasha J Brown, Elizabeth A. Sellars, Stefan Mundlos, Susan M. Hiatt, Giuliana Giannuzzi, Sinje Geuer, Giuseppina Vitiello, Séverine Lorrain, Alexandre Reymond, David J. Amor, Nicolas Chatron, Julien Delafontaine, Martine Doco, Kristian Tveten, Cecilie F. Rustad, Sylvain Pradervand, Delphine Héron, Alfredo Brusco, Elena L. Dadali, Nicola Brunetti-Pierri, Boris Keren, Yuri A. Zarate, Crystle Lee, Joel Charrow, Binnaz Yalcin, Heidi Taska-Tench, Elin Tønne, Tomoko Uehara, Alexander Lavrov, Jennifer Norman, Norine Voisin, Anna C.E. Hurst, Victoria R. Sanders, Ganka Douglas, Diana Johnson, Kenjiro Kosaki

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet

International audience; The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an auto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bdc2a9f1f9c07fc6b814c2617df3bcc
http://hdl.handle.net/2318/1789646

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Autor: Marina Trivisano, Julien Jung, Lieven Lagae, Marco Tartaglia, Nathalie Villeneuve, Berge A. Minassian, Ilaria Guella, Ruo Ming Shi, Luca De Palma, Gregory M. Cooper, Alessandro Ferretti, Michelle L. Thompson, Ingrid E. Scheffer, Eri Takeshita, Antonio Novelli, Gunnar M. Buyse, Michelle Demos, Alessandra Terracciano, Linda Huh, Federico Vigevano, Tomoko Kobayashi, Laurent Villard, Atsuo Kikuchi, Ryo Takeguchi, Gaetan Lesca, Maryline Carneiro, E. M. Bebin, Marie Laure Mathieu, Nicola Specchio, Mathieu Milh, Kazuhiro Haginoya, Aleksandra Siekierska, Nicola Pietrafusa

Publikováno v: Epilepsia
Epilepsia, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Epilepsia, Wiley, 2020, 61 (7), ⟨10.1111/epi.16582⟩

International audience; Objective: Fibroblast-growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 gene encodes a cytosolic protein that interacts with neuronal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d4d1a11078ecaf1ba0275c15ca52819
https://hal-amu.archives-ouvertes.fr/hal-03149027