Rezultati - Dorota Hoffman‐Zacharska

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  1. 1
    Genetic heterogeneity in infantile spasms

    Genetic heterogeneity in infantile spasms od Alison M. Muir, Candace T. Myers, Nancy Nguyen, Julia Saykally, Dana Craiu, Peter De Jonghe, Ingo Helbig, Dorota Hoffman‐Zacharska, Renzo Guerrini, Anna‐Elina Lehesjoki, Carla Marini, Rikke S. Møller, José M. Serratosa, Katalin Štěrbová, Pasquale Striano, Sarah von Spiczak, Sarah Weckhuysen, Heather C. Mefford

    Izdano 2019
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  2. 2
    Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease

    Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease od Dorota Hoffman‐Zacharska, Dariusz Koziorowski, Owen A. Ross, Michał Milewski, Jarosław Poznański, Marta Jurek, Zbigniew K. Wszołek, Alexandra I. Soto‐Ortolaza, Jarosław Sławek, Piotr Janik, Zygmunt Jamrozik, Anna Potulska‐Chromik, Barbara Jasińska‐Myga, Grzegorz Opala, Anna Krygowska‐Wajs, K Czyźewski, Dennis W. Dickson, Jerzy Bal, Andrzej Friedman

    Izdano 2013
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  3. 3
    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females od Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel‐An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman‐Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, A. Dusser, Marie Bru, Brigitte Gilbert‐Dussardier, Agathe Roubertie, Anna Kaminśka, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaëtan Lesca, Alexis Arzimanoglou, Eric Leguern

    Izdano 2010
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  4. 4
    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation od Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben‐Zeev, Haim Bassan, Orit Reish, Daphna Marom, Natalie Hauser, Thuy‐Anh Vu, Sally Ackermann, Careni Spencer, Natalie Lippa, Shraddha Srinivasan, Agnieszka Charzewska, Dorota Hoffman‐Zacharska, David Fitzpatrick, Victoria Harrison, Pradeep Vasudevan, Shelagh Joss, Daniela T. Pilz, Katherine A. Fawcett, Ingo Helbig, Naomichi Matsumoto, Jennifer A. Kearney, Andrew E. Fry, Ethan M. Goldberg

    Izdano 2020
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  5. 5
    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly od Katia Hardies, Patrick May, Tania Djémié, Oana Tarța-Arsene, Tine Deconinck, Dana Craiu, Ingo Helbig, Arvid Suls, Rudi Balling, Sarah Weckhuysen, Peter De Jonghe, Jennifer Hirst, Zaid Afawi, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Christel Depienne, Carolien G. F. de Kovel, Petia Dimova, Rosa Guerrero, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Eric Leguern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Rikke S. Møller, Ulrich Stephani, Pasquale Striano, Tiina Talvik, Sarah von Spiczak, Yvonne G. Weber, Federico Zara

    Izdano 2014
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  6. 6
    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy od Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch, Tania Djémié, Stephan A. Müller, Rikke S. Møller, Bridget H. Maher, Laura Hernandez‐Hernandez, Matthis Synofzik, Hande Çağlayan, Mutluay Arslan, José M. Serratosa, Michael Nothnagel, Patrick May, Roland Krause, H. Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Lüdger Schöls, Primus E. Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Štěrbová, Dana Craiu, Dorota Hoffman‐Zacharska, Christian Korff, Yvonne G. Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K. Bernhard, Andreas Merkenschlager, Wieland Kieß, Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M. Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R. Lemke

    Izdano 2015
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  7. 7
    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy

    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy od Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaëtan Lesca, Agnès Rastetter, Benoît Gachet, Yannick Marie, Georg Christoph Korenke, Ingo Borggraefe, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Mariola Rudzka‐Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Rieß, Stefanie Beck‐Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, М. Б. Миронов, M. Yu. Bobylоva, К. Yu. Мukhin, Laura Hernandez‐Hernandez, Bridget H. Maher, Sanjay M. Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T. Myers, Heather C. Mefford, Konstanze Hörtnagel, Saskia Biskup, Johannes R. Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne

    Izdano 2016
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  8. 8
    Phenotypic spectrum of <i>GABRA1</i>

    Phenotypic spectrum of <i>GABRA1</i> od Katrine M. Johannesen, Carla Marini, Siona Pfeffer, Rikke S. Møller, Thomas Dorn, Cristina Elena Niturad, Elena Gardella, Yvonne G. Weber, Marianne Søndergård, Helle Hjalgrim, Mariana Nikanorova, Felicitas Becker, Line H.G. Larsen, Hans A. Dahl, Oliver Maier, Davide Mei, Saskia Biskup, Karl Martin Klein, Philipp S. Reif, Felix Rosenow, Abdallah F. Elias, Cindy Hudson, Katherine L. Helbig, Susanne Schubert‐Bast, Maria Rosaria Scordo, Dana Craiu, Tania Djémié, Dorota Hoffman‐Zacharska, Hande Çağlayan, Ingo Helbig, José M. Serratosa, Pasquale Striano, Peter De Jonghe, Sarah Weckhuysen, Arvid Suls, Kai Muru, Inga Talvik, Tiina Talvik, Hiltrud Muhle, Ingo Borggraefe, Imma Rost, Renzo Guerrini, Holger Lerche, Johannes R. Lemke, Guido Rubboli, Snezana Maljevic

    Izdano 2016
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  9. 9
    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy od Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, María J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah Bürki, Maria Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller

    Izdano 2019
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  10. 10
    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures

    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures od Rhys H. Thomas, Lin Mei Zhang, Gemma L. Carvill, John S. Archer, Sinéad B. Heavin, Simone Mandelstam, Dana Craiu, Samuel F. Berkovic, Deepak Gill, Heather C. Mefford, Ingrid E. Scheffer, Aarno Paalotie, Anna‐Elina Lehesjoki, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric LeGuern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Manuela Pendziwiat, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Arvid Suls, Tania Djémié, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    Izdano 2015
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  11. 11
    De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

    De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome od Arvid Suls, Johanna A. Jaehn, Angéla Kecskés, Yvonne G. Weber, Sarah Weckhuysen, Dana Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley, Sarah von Spiczak, Gerhard Kluger, Catrinel Iliescu, Tiina Talvik, Inga Talvik, Cihan Meral, Hande Çağlayan, Beatriz G. Giráldez, José M. Serratosa, Johannes R. Lemke, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Nina Barišić, Vladimı́r Komárek, Helle Hjalgrim, Rikke S. Møller, Tarja Linnankivi, Petia Dimova, Pasquale Striano, Federico Zara, Carla Marini, Renzo Guerrini, Christel Depienne, Stéphanie Baulac, Gregor Kuhlenbäumer, Alexander D. Crawford, Anna‐Elina Lehesjoki, Peter de Witte, Aarno Palotie, Holger Lerche, Camila V. Esguerra, Peter De Jonghe, Ingo Helbig, Rik Hendrickx, Philip Holmgren, Ulrich Stephani, Hiltrud Muhle, Manuela Pendiziwiat, Silke Appenzeller, Kaja Kristine Selmer, Eva H. Brilstra, Bobby P.C. Koeleman, Felix Rosenow, Eric LeGuern, Katalin Štěrbová, Budisteanu Magdalena, Gherghiceanu Rodica, Oana Tarta Arsene, Barca Diana, Rosa Guerrero, Laura Ortega, Албена Тодорова, Andrey Kirov, Angela Robbiano, Mutluay Arslan, Uluç Yiş, Vanja Ivanović

    Izdano 2013
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  12. 12
    The phenotypic spectrum of <i>SCN8A</i> encephalopathy

    The phenotypic spectrum of <i>SCN8A</i> encephalopathy od Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, G. Schmiedel, Nina Barišić, Christel Depienne, Eva H. Brilstra, Yuan Mang, Jens Erik Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby P.C. Koeleman, M. L. Harris, Kees P. J. Braun, Carolien G. F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, M. Troncoso, L. Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, Aarno Palotie, Anna-Elina Lehesjoki, Arvid Suls, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric Leguern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    Izdano 2015
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  13. 13
    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy od Ingo Helbig, Tania López-Hernández, Oded Shor, Peter D. Galer, Shiva Ganesan, Manuela Pendziwiat, Annika Rademacher, Colin A. Ellis, Nadja Hümpfer, Niklas Schwarz, Simone Seiffert, Joseph Peeden, Joseph Shen, Katalin Štěrbová, Trine Bjørg Hammer, Rikke S. Møller, Deepali N. Shinde, Sha Tang, Lacey Smith, Annapurna Poduri, Roland Krause, Felix Benninger, Katherine L. Helbig, Volker Haucke, Yvonne G. Weber, Rudi Balling, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Vladimı́r Komárek, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Hiltrud Muhle, Deb K. Pal, Aarno Palotie, Felix Rosenow, Susanne Schubert‐Bast, Kaja Kristine Selmer, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Sarah Weckhuysen, Federico Zara, Paul Avillach, Anna Bartels, Sawona Biswas, Florence T. Bourgeois, Batsal Devkota, Tracy A. Glauser, Barbara Hallinan, Allison P. Heath, Joel N. Hirschhorn, Judson Kilbourn, Sek Won Kong, Ian D. Krantz, In‐Hee Lee, Kenneth D. Mandl, Eric D. Marsh, Kristen L. Sund, Deanne Taylor, Peter S. White

    Izdano 2019
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  14. 14
    Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project

    Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Projec... od Eva‐Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad‐Annuar, Bashayer Al‐Mubarak, Roy N. Alcalay, Victoria Álvarez, Ignacio Amorín, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A. Barker, Melinda Barkhuizen, A. Nazlı Başak, Vincenzo Bonifati, Agnita J.W. Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimón, Mario Cornejo‐Olivas, Leonor Correia Guedes, Jean‐Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patrícia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim J. Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez‐Garre, Haşmet Hanağası, Nobutaka Hattori, Fayçal Hentati, Dorota Hoffman‐Zacharska, С. Н. Иллариошкин, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke J.A. Kievit, Péter Klivényi, Vladimir Kostić, Dariusz Koziorowski, Andrea A. Kühn, Anthony E. Lang, Shen‐Yang Lim, Chin‐Hsien Lin, Katja Lohmann, Vladana Marković, Mika H. Martikainen, George D. Mellick, Marcelo Merello, Łukasz Milanowski, Pablo Mir, Özgür Öztop Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther Sammler, Maria Skaalum Petersen, Matěj Škorvánek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vítor Tumas, Enza Maria Valente, Bart P.C. van de Warrenburg, Caroline H. Williams‐Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein

    Izdano 2023
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  15. 15
    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications od Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne

    Izdano 2021
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