Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Dragan, Marjanovic"'
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
Autor:
Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle
Publikováno v:
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are assoc
Autor:
Sanja Vujovic, Dragan Marjanovic, Momir Stevanovic, Borivoj Bijelic, Vladan Djordjevic, Danijela Staletovic, Ena Joksimovic, Jana Desnica
Publikováno v:
Srpski arhiv za celokupno lekarstvo. 150:384-389
Introduction/Objective. Stress is proposed as one of the risk factors linked to periodontal disease. The COVID-19 pandemic has a significant negative impact in population on mental and somatic health. This study aimed to examine the possible associat
Autor:
Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffler, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen
Publikováno v:
Stamberger, H, Crosiers, D, Balagura, G, Bonardi, C M, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, C A, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, K M, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, McKeown Ruggiero, S, Mochel, F, Ramond, F, Reif, P S, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, R H, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, I E, Striano, P, Møller, R S, Gardella, E & Weckhuysen, S 2022, ' Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood ', Neurology, vol. 99, no. 3, pp. E221-E233 . https://doi.org/10.1212/WNL.0000000000200715
Neurology
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715
Neurology
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715
Published by Wolters Kluwer, Philadelphia, Pa.
Published by Wolters Kluwer, Philadelphia, Pa.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c44c6535fedb2cdb8a42772cfe58f9
https://pure.au.dk/ws/files/330041391/NaturalHistoryStudyofSTXBP1_Developmentaland_EpilepticEncephalopathyIntoAdulthood.pdf
https://pure.au.dk/ws/files/330041391/NaturalHistoryStudyofSTXBP1_Developmentaland_EpilepticEncephalopathyIntoAdulthood.pdf
Publikováno v:
2022 IEEE Zooming Innovation in Consumer Technologies Conference (ZINC).
Autor:
Ulrike B S, Hedrich, Stephan, Lauxmann, Markus, Wolff, Matthis, Synofzik, Thomas, Bast, Adrian, Binelli, José M, Serratosa, Pedro, Martínez-Ulloa, Nicholas M, Allen, Mary D, King, Kathleen M, Gorman, Bruria Ben, Zeev, Michal, Tzadok, Lily, Wong-Kisiel, Dragan, Marjanovic, Guido, Rubboli, Sanjay M, Sisodiya, Florian, Lutz, Harshad Pannikkaveettil, Ashraf, Kirsten, Torge, Pu, Yan, Christian, Bosselmann, Niklas, Schwarz, Monika, Fudali, Holger, Lerche
Publikováno v:
Science translational medicine. 13(609)
Developmental and epileptic encephalopathies are devastating disorders characterized by epilepsy, intellectual disability, and other neuropsychiatric symptoms, for which available treatments are largely ineffective. Following a precision medicine app
Autor:
José M. Serratosa, Kathleen M. Gorman, Dragan Marjanovic, Adrian Binelli, Niklas Schwarz, Kirsten Torge, Guido Rubboli, Monika Fudali, Harshad Pannikkaveettil Ashraf, Sanjay M. Sisodiya, Ulrike B. S. Hedrich, Matthis Synofzik, Mary D. King, Lily C. Wong-Kisiel, Pu Yan, Bruria Ben Zeev, Pedro Martínez-Ulloa, Holger Lerche, Michal Tzadok, Stephan Lauxmann, Christian Bosselmann, Thomas Bast, Markus Wolff, Florian Lutz, Nicholas M. Allen
Publikováno v:
Science translational medicine 13(609), eaaz4957 (2021). doi:10.1126/scitranslmed.aaz4957
Developmental and epileptic encephalopathies are devastating disorders characterized by epilepsy, intellectual disability, and other neuropsychiatric symptoms, for which available treatments are largely ineffective. Following a precision medicine app
Autor:
Guido Rubboli, Line H.G. Larsen, Agnieszka Pavbro, Katrine M Johannesen, Rikke S. Møller, Natalya Nikanorova, Dragan Marjanovic
Publikováno v:
Johannesen, K M, Nikanorova, N, Marjanovic, D, Pavbro, A, Larsen, L H G, Rubboli, G & Møller, R S 2020, ' Utility of genetic testing for therapeutic decision-making in adults with epilepsy ', Epilepsia, vol. 61, no. 6, pp. 1234-1239 . https://doi.org/10.1111/epi.16533
Objective: Genetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In the present study, we sought to investigate a cohort of adult patients with epilepsy, to determinate the diagnostic yield and ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b26b51b4faf62496575fb7aee5d65c
https://findresearcher.sdu.dk:8443/ws/files/170280971/epi.16533.pdf
https://findresearcher.sdu.dk:8443/ws/files/170280971/epi.16533.pdf
Autor:
Claire Bardel, Thomas Simonet, Vincent des Portes, Patrick Edery, Corrado Romano, Heather C Mefford, Maria J Miranda, Amy L Schneider, Audrey Labalme, Lauren Baggett, Alma Kuechler, Nicolas Chatron, Antonino Alberti, Gemma L. Carvill, Ingrid E. Scheffer, Erik-Jan Kamsteeg, Mirella Vinci, Damien Sanlaville, Amy Lacroix, Dragan Marjanovic, Neena L. Champaigne, Rolph Pfundt, Dagmar Wieczorek, Elena Gardella, Rikke S. Møller, Johan Aronsson, Gaetan Lesca
Publikováno v:
Annals of Neurology, 83, 5, pp. 926-934
Annals of Neurology, 83, 926-934
Chatron, N, Møller, R S, Champaigne, N L, Schneider, A L, Kuechler, A, Labalme, A, Simonet, T, Baggett, L, Bardel, C, Kamsteeg, E J, Pfundt, R, Romano, C, Aronsson, J, Alberti, A, Vinci, M, Miranda, M J, Lacroix, A, Marjanovic, D, des Portes, V, Edery, P, Wieczorek, D, Gardella, E, Scheffer, I E, Mefford, H, Sanlaville, D, Carvill, G L & Lesca, G 2018, ' The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant ', Annals of Neurology, vol. 83, no. 5, pp. 926-934 . https://doi.org/10.1002/ana.25222
Annals of Neurology, 83, 926-934
Chatron, N, Møller, R S, Champaigne, N L, Schneider, A L, Kuechler, A, Labalme, A, Simonet, T, Baggett, L, Bardel, C, Kamsteeg, E J, Pfundt, R, Romano, C, Aronsson, J, Alberti, A, Vinci, M, Miranda, M J, Lacroix, A, Marjanovic, D, des Portes, V, Edery, P, Wieczorek, D, Gardella, E, Scheffer, I E, Mefford, H, Sanlaville, D, Carvill, G L & Lesca, G 2018, ' The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant ', Annals of Neurology, vol. 83, no. 5, pp. 926-934 . https://doi.org/10.1002/ana.25222
Objective: Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation in layer II to III neurons of the cerebral cortex. We identify a recurrent de novo CUX2 p.Glu590Lys as a nove
Autor:
Darina Prchalova, Philippe Pm Campeau, Bénédicte Duban-Bedu, Jacques L. Michaud, Marije Koopmans, Arnold Munnich, Christel Depienne, Marilyn Tallot, Fadi F. Hamdan, Eveline Hagebeuk, Marie-Laure Moutard, Anna Kaminska, Petra Laššuthová, Kathryn G. Miller, Ange Line Bruel, Xilma Xr Ortiz-Gonzalez, Shoji Ichikawa, Ingo Helbig, Ethan Em Goldberg, Sarah Weckhuysen, Daphné Lehalle, Elena Gardella, Marie-Bertille Dehouck, Claude Besmond, Patrick Edery, Christine Ioos, Pauline Marzin, Christine Coubes, Julien Buratti, Rima Nabbout, Hubert Journel, Audrey Putoux, Giulia Barcia, Laurence Hubert, Claire Davidson, Berten Ceulemans, Ana Ag Cristancho, Fiona Cunningham, Chloé Quélin, Christèle Dubourg, Aoife Ac McMahon, Thomas Smol, Delphine Héron, Katalin Štěrbová, Katherine Kl Helbig, Boris Keren, Ivan Shelihan, Damien Lederer, Rikke Rs Møller, Emílie Vyhnálková, Alyssa R. Rosen, Natasha Shur, Julie Gauthier, Dragan Marjanovic, Berge Ba Minassian, Marleen Simon, Ledia Brunga, Guillaume Smits, Sandra Janssens, Catheline Vilain, Gaetan Lesca, Caroline Nava, Jasper J. van der Smagt, Laurent Villard, Cyril Mignot, Samuel P. Yang, Joelle Roume, Julie Soblet, JM Pinard, Stéphanie Gobin-Limballe, Bobby P. C. Koeleman, Miroslava Hancarova, Elizabeth J. Donner, Nienke Ne Verbeek, Marie-Line Jacquemont, Marjan J. A. van Kempen, Julia Metreau, David Geneviève, Joannella Morales, Peter M. van Hasselt, Christine Barnerias, Caroline Lacoste, Claire Bar, Thierry Bienvenu, Mathieu Milh, Elsa Rossignol
Publikováno v:
Genetics in medicine, 21 (4
Genetics in Medicine
Genetics in Medicine, 2019, 21 (4), pp.837-849. ⟨10.1038/s41436-018-0268-1⟩
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M-L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A-L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M-B, Donner, E J, Duban-Bedu, B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M-L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J-M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 4, pp. 837-849 . https://doi.org/10.1038/s41436-018-0268-1
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, 21(4), 837. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2018, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, 2019, 21 (4), pp.837-849. ⟨10.1038/s41436-018-0268-1⟩
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M-L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A-L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M-B, Donner, E J, Duban-Bedu, B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M-L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J-M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 4, pp. 837-849 . https://doi.org/10.1038/s41436-018-0268-1
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, 21(4), 837. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2018, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in medicine
Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.
SCOPUS: ar.j
info:eu-repo/semantics/published
SCOPUS: ar.j
info:eu-repo/semantics/published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa249166f7233478cfd55c96fecca05b
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287187
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287187
Autor:
Petra Laššuthová, Kathryn G. Miller, Jacques L. Michaud, Sarah Weckhuysen, Claude Besmond, Stéphanie Gobin-Limballe, Emílie Vyhnálková, Aoife McMahon, Peter M. van Hasselt, Christine Barnerias, Laurence Hubert, Joannella Morales, Daphné Lehalle, Caroline Lacoste, Rima Nabbout, Hubert Journel, Jasper J. van der Smagt, Patrick Edery, Marjan J. A. van Kempen, Samuel P. Yang, Fiona Cunningham, Thomas Smol, Delphine Héron, Darina Prchalova, David Geneviève, Thierry Bienvenu, Mathieu Milh, Bénédicte Duban-Bedu, Ledia Brunga, Marleen Simon, Ana G. Cristancho, Ethan M. Goldberg, Sandra Janssens, Christel Depienne, Miroslava Hancarova, Shoji Ichikawa, Berge A. Minassian, Ivan Shelihan, Elsa Rossignol, Ange Line Bruel, Elena Gardella, Marije Koopmans, Arnold Munnich, Natasha Shur, Pauline Marzin, Ingo Helbig, Julien Buratti, Alyssa R. Rosen, Giulia Barcia, Claire Davidson, Berten Ceulemans, Marilyn Tallot, Marie Line Jacquemont, Guillaume Smits, Catheline Vilain, Katherine L. Helbig, Gaetan Lesca, Rikke S. Møller, Claire Bar, Marie Laure Moutard, Caroline Nava, Marie Bertille Dehouck, Julie Soblet, Philippe M. Campeau, Cyril Mignot, Laurent Villard, Joelle Roume, Julia Metreau, Dragan Marjanovic, Damien Lederer, Audrey Putoux, Chloé Quélin, Fadi F. Hamdan, Boris Keren, Anna Kaminska, Xilma R. Ortiz-Gonzalez, Christine Ioos, Christine Coubes, Julie Gauthier, Nienke E. Verbeek, Bobby P. C. Koeleman, Eveline Hagebeuk, Jean Marc Pinard, Katalin Štěrbová, Christèle Dubourg, Elizabeth J. Donner
Publikováno v:
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M B, Donner, E J, Duban-Bedu, B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' Correction: IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 8, pp. 1897-1898 . https://doi.org/10.1038/s41436-018-0327-7
This Article was originally published under Nature Research’s License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7eb19782939810e2271f6c2552f95ec
https://portal.findresearcher.sdu.dk/da/publications/8d5d26bf-dae3-42ea-9734-c876adb49ffa
https://portal.findresearcher.sdu.dk/da/publications/8d5d26bf-dae3-42ea-9734-c876adb49ffa