المؤلفون: Anett Illés, Péter Balicza, Viktor Molnár, Renáta Bencsik, István Szilvási, Maria Judit Molnar

المصدر: BMC Neurology, Vol 19, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Parkinson’s disease, Parkinsonism, cocaine, LRRK2, Genetic risk factor, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-019-1496-y; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/63ca7420bd344f658fc8ab9dab9ed76d

المؤلفون: Noémi Ágnes Varga, Klára Pentelényi, Péter Balicza, András Gézsi, Viktória Reményi, Vivien Hársfalvi, Renáta Bencsik, Anett Illés, Csilla Prekop, Mária Judit Molnár

المصدر: Behavioral and Brain Functions, Vol 14, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: Autism, Mitochondrial dysfunction, mtDNA deletion, ASD associated genetic alterations, Intergenomic communication, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12993-018-0135-x; https://doaj.org/toc/1744-9081

URL الوصول: https://doaj.org/article/652b60e4f28447cc84307c54a3ca3ccb

المؤلفون: Anett Illés, Dóra Csabán, Zoltán Grosz, Péter Balicza, András Gézsi, Viktor Molnár, Renáta Bencsik, Anikó Gál, Péter Klivényi, Maria Judit Molnar

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: Parkinson’s disease, next-generation sequencing, genetic risk, monogenic forms, risk factors, early- onset, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.01061/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/70d119499d72403c91410c215143ca65

المؤلفون: Péter Balicza, Noémi Ágnes Varga, Bence Bolgár, Klára Pentelényi, Renáta Bencsik, Anikó Gál, András Gézsi, Csilla Prekop, Viktor Molnár, Mária Judit Molnár

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: autism spectrum disorder, rare variant, next generation sequencing, panel sequencing, rare variant burden, cluster analysis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00434/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/53ba25c4f3e045d2a718d6c5730e49b7

المؤلفون: Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: NKX2-1 gene, NKX2-1 related disorders, benign hereditary chorea, brain-lung-thyroid syndrome, chorea, myoclonus dystonia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00335/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/29a8ef6e2ffb44f08eeeba06d530d232

المؤلفون: Sándor Márki, Anikó Göblös, Eszter Szlávicz, Nóra Török, Péter Balicza, Benjamin Bereznai, Annamária Takáts, József Engelhardt, Péter Klivényi, László Vécsei, Mária Judit Molnár, Nikoletta Nagy, Márta Széll

المصدر: Parkinson's Disease, Vol 2018 (2018)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-8083; https://doaj.org/toc/2042-0080

URL الوصول: https://doaj.org/article/3b02571593bc44f7a52e03b3feeefaa5

المؤلفون: Peter Balicza, Andras Gezsi, Mariann Fedor, Judit C. Sagi, Aniko Gal, Noemi Agnes Varga, Maria Judit Molnar

المصدر: Frontiers in Psychiatry, Vol 14 (2024)

مصطلحات موضوعية: MECP2 mutation, Rett syndrome, learning disability, anxiety, negative symptoms, cariprazine, Psychiatry, RC435-571

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1301272/full; https://doaj.org/toc/1664-0640; https://doaj.org/article/dbee1aee261740828aabf8ee2e9df22f

الاتاحة: https://doi.org/10.3389/fpsyt.2023.1301272
https://doaj.org/article/dbee1aee261740828aabf8ee2e9df22f

المؤلفون: Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G, Hoischen, Alexander, Nelen, Marcel, Gilissen Christian, olve-RD consortium: Olaf Riess, Tobias B Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M Schulze-Hentrich, Rebecca Schüle, Jishu Xu, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Holger Lerche, Josua Kegele, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A C 't Hoen, Lisenka E L M Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris Te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J Brookes, Colin Veal, Spencer Gibson, Vatsalya Maddi, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Jordi Diaz Manera, Sophie Hambleton, Karin Engelhardt, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, David Lagorce, Oscar Hongnat, Maroua Chahdil, Emeline Lebreton, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek Jr, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Petra Lišková, Pavla Doležalová, Helen Parkinson, Thomas Keane, Mallory Freeberg, Coline Thomas, Dylan Spalding, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Stephanie Efthymiou, Heba Morsy, Elisa Cali, Francesca Magrinelli, Sanjay M Sisodiya, Jonathan Rohrer, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Geert de Vries, Jonathan De Winter, Danique Beijer, Peter de Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Vincenzo Nigro, Margherita Mutarelli, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Francesca Gualandi, Stefania Bigoni, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A Swertz, Lennart Johansson, Joeri K van der Velde, Gerben van der Vries, Pieter B Neerincx, David Ruvolo, Kristin M Abbott, Wilhemina SKerstjens Frederikse, Eveline Zonneveld-Huijssoon, Dieuwke Roelofs-Prins, Marielle van Gijn, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Delphine Heron, Cyril Mignot, Boris Keren, Jean-Madeleine de Sainte Agathe, Caroline Rooryck, Didier Lacombe, Aurelien Trimouille, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Simone Furini, Chiara Fallerini, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Ana Cazurro-Gutiérrez, Belén Pérez-Dueñas, Francina Munell, Clara Franco Jarava, Laura Batlle Masó, Anna Marcé-Grau, Roger Colobran, Andrés Nascimento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, Bodo Grimbacher, David Beeson, Judith Cossins, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Patrick F Chinnery, Thiloka Ratnaike, Fei Gao, Katherine Schon, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump, Ayşe Nazlı Başak, Dimitri Hemelsoet, Bart Dermaut, Nika Schuermans, Bruce Poppe, Hannah Verdin, Davide Mei, Annalisa Vetro, Simona Balestrini, Renzo Guerrini, Kristl Claeys, Gijs W E Santen, Emilia K Bijlsma, Mariette J V Hoffer, Claudia A L Ruivenkamp, Kaan Boztug, Matthias Haimel, Isabelle Maystadt, Isabelle Cordts, Marcus Deschauer, Ioannis Zaganas, Evgenia Kokosali, Mathioudakis Lambros, Athanasios Evangeliou, Martha Spilioti, Elisabeth Kapaki, Mara Bourbouli, Pasquale Striano, Federico Zara, Antonella Riva, Michele Iacomino, Paolo Uva, Marcello Scala, Paolo Scudieri, Maria-Roberta Cilio, Evelina Carpancea, Chantal Depondt, Damien Lederer, Yves Sznajer, Sarah Duerinckx, Sandrine Mary, Christel Depienne, Andreas Roos, Patrick May

المساهمون: Burcu, Yaldiz, Erdi, Kucuk, Juliet, Hampstead, Tom, Hofste, Rolph, Pfundt, Jordi, Corominas Galbany, Tuula, Rinne, Helger G, Yntema, Alexander, Hoischen, Marcel, Nelen, Christian, Gilissen, consortium: Olaf Riess, olve-RD, B Haack, Tobia, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, M Schulze-Hentrich, Julia, Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Han, Hoogerbrugge, Nicoline, Hoischen, Alexander, C 't Hoen, Peter A, M Vissers, Lisenka E L, Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karoli, M de Voer, Richarda, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Te Paske, Iri, Janssen, Erik, de Boer, Elke, Steehouwer, Marloe, Yaldiz, Burcu, Kleefstra, Tjitske, J Brookes, Anthony, Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Yavari Dizjikan, Farid, Shorter, Thoma, Töpf, Ana, Straub, Volker, Marini Bettolo, Chiara, Diaz Manera, Jordi, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yanni, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Glynne Gut, Ivo, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasio, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marco, Hernández, Carle, Picó, Daniel, Paramonov, Ida, Lochmüller, Hann, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni

مصطلحات موضوعية: Exome sequencing, Genome sequencing, Uniformity of coverage

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37138343; info:eu-repo/semantics/altIdentifier/wos/WOS:000979939700001; volume:17; issue:1; numberofpages:9; journal:HUMAN GENOMICS; https://hdl.handle.net/11365/1264554; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85158030412; https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155375/

الاتاحة: https://hdl.handle.net/11365/1264554
https://doi.org/10.1186/s40246-023-00485-5
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155375/

المؤلفون: Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, Laszlo Nagy, Erin L Seifert, Maria Judit Molnar, György Hajnóczky

المصدر: EMBO Molecular Medicine, Vol 15, Iss 8, Pp 1-2 (2023)

مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470

Relation: https://doi.org/10.15252/emmm.202317911; https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684; https://doaj.org/article/05870890e3114cd0a1ae734c6b71f1e0

الاتاحة: https://doi.org/10.15252/emmm.202317911
https://doaj.org/article/05870890e3114cd0a1ae734c6b71f1e0

المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)

مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000180; https://doaj.org/toc/2666-2477; https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52

الاتاحة: https://doi.org/10.1016/j.xhgg.2023.100186
https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52

المؤلفون: Renata Toth-Bencsik, Peter Balicza, Edina Timea Varga, Andras Lengyel, Gabor Rudas, Aniko Gal, Maria Judit Molnar

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: neurodegeneration with brain iron accumulation II (NBIA2B), PLA2G6 gene, PLA2G6-associated neurodegeneration (PLAN), neuroaxonal dystrophy, Dystonia-Parkinsonism syndrome, Genetics, QH426-470

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.628904/full; https://doaj.org/toc/1664-8021; https://doaj.org/article/ed28f611384e4b23a1d45bef48543ab4

الاتاحة: https://doi.org/10.3389/fgene.2021.628904
https://doaj.org/article/ed28f611384e4b23a1d45bef48543ab4

المؤلفون: Peter Balicza, Andras Gezsi, Mariann Fedor, Judit C. Sagi, Aniko Gal, Noemi Agnes Varga, Maria Judit Molnar

مصطلحات موضوعية: Psychiatry (incl. Psychotherapy), MECP2 mutation, Rett syndrome, learning disability, anxiety, negative symptoms, cariprazine, mitochondrial dysfunction, RNA sequencing

Relation: https://figshare.com/articles/dataset/Table_1_Multilevel_evidence_of_MECP2-associated_mitochondrial_dysfunction_and_its_therapeutic_implications_xlsx/24946155

الاتاحة: https://doi.org/10.3389/fpsyt.2023.1301272.s001
https://figshare.com/articles/dataset/Table_1_Multilevel_evidence_of_MECP2-associated_mitochondrial_dysfunction_and_its_therapeutic_implications_xlsx/24946155

المؤلفون: Idris Janos Jimoh, Barbara Sebe, Peter Balicza, Mariann Fedor, Ilona Pataky, Gabor Rudas, Aniko Gal, Gabriella Inczedy-Farkas, Gyorgy Nemeth, Maria Judit Molnar

المصدر: Therapeutic Advances in Neurological Disorders, Vol 13 (2020)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

Relation: https://doi.org/10.1177/1756286420938972; https://doaj.org/toc/1756-2864; https://doaj.org/article/c06345cd00104603aea5b2ff07bbec82

الاتاحة: https://doi.org/10.1177/1756286420938972
https://doaj.org/article/c06345cd00104603aea5b2ff07bbec82

المؤلفون: Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, Laszlo Nagy, Erin L Seifert, Maria Judit Molnar, György Hajnóczky

المصدر: EMBO Molecular Medicine, Vol 9, Iss 7, Pp 967-984 (2017)

مصطلحات موضوعية: misato, mitochondria, mitochondrial disease, mitochondrial fusion, MSTO1, Medicine (General), R5-920, Genetics, QH426-470

Relation: https://doi.org/10.15252/emmm.201607058; https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684; https://doaj.org/article/479e508ee72849f6be4288a872e463e0

الاتاحة: https://doi.org/10.15252/emmm.201607058
https://doaj.org/article/479e508ee72849f6be4288a872e463e0

المؤلفون: Anett, Illés, Péter, Balicza, Anikó, Gál, Klára, Pentelényi, Dóra, Csabán, András, Gézsi, Viktor, Molnár, Mária Judit, Molnár

المصدر: Orvosi hetilap. 161(20)

مصطلحات موضوعية: Hungary, Ophthalmoplegia, Parkinsonian Disorders, Mental Disorders, Mutation, Humans, Genetic Predisposition to Disease, Parkinson Disease, Comorbidity, DNA, Mitochondrial, DNA Polymerase gamma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::06cbfe437fa8a9449656afd3efd3feea
https://pubmed.ncbi.nlm.nih.gov/32364361

المؤلفون: Péter, Balicza, Zoltán, Grosz, Renáta, Bencsik, Anett, Illés, Anikó, Gál, András, Gézsi, Mária Judit, Molnár

المصدر: Orvosi hetilap. 159(28)

مصطلحات موضوعية: Rare Diseases, Spastic Paraplegia, Hereditary, Exome Sequencing, Humans, Ataxia, Genes, Recessive, Genetic Predisposition to Disease, Genetic Testing, Nervous System Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e0f4fed331a4ced8f159d22c0a96498d
https://pubmed.ncbi.nlm.nih.gov/29983107

المؤلفون: Péter Balicza, Noémi Ágnes Varga, Bence Bolgár, Klára Pentelényi, Renáta Bencsik, Anikó Gál, András Gézsi, Csilla Prekop, Viktor Molnár, Mária Judit Molnár

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autism spectrum disorder, rare variant, next generation sequencing, panel sequencing, rare variant burden, cluster analysis, syndromic autism

Relation: https://figshare.com/articles/dataset/Table_1_Comprehensive_Analysis_of_Rare_Variants_of_101_Autism-Linked_Genes_in_a_Hungarian_Cohort_of_Autism_Spectrum_Disorder_Patients_docx/8093210

الاتاحة: https://doi.org/10.3389/fgene.2019.00434.s001
https://figshare.com/articles/dataset/Table_1_Comprehensive_Analysis_of_Rare_Variants_of_101_Autism-Linked_Genes_in_a_Hungarian_Cohort_of_Autism_Spectrum_Disorder_Patients_docx/8093210

المؤلفون: Sándor, Márki, Anikó, Göblös, Eszter, Szlávicz, Nóra, Török, Péter, Balicza, Benjamin, Bereznai, Annamária, Takáts, József, Engelhardt, Péter, Klivényi, László, Vécsei, Mária Judit, Molnár, Nikoletta, Nagy, Márta, Széll

المصدر: Parkinson's Disease

مصطلحات موضوعية: Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::71d48c90b9792aeb8c783e4056058172
https://pubmed.ncbi.nlm.nih.gov/29850016

المؤلفون: Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, NKX2-1 gene, NKX2-1 related disorders, benign hereditary chorea, brain-lung-thyroid syndrome, chorea, myoclonus dystonia, pituitary, empty sella

Relation: https://figshare.com/articles/dataset/Table_1_NKX2-1_New_Mutation_Associated_With_Myoclonus_Dystonia_and_Pituitary_Involvement_XLSX/6993347

الاتاحة: https://doi.org/10.3389/fgene.2018.00335.s001
https://figshare.com/articles/dataset/Table_1_NKX2-1_New_Mutation_Associated_With_Myoclonus_Dystonia_and_Pituitary_Involvement_XLSX/6993347

المؤلفون: Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, NKX2-1 gene, NKX2-1 related disorders, benign hereditary chorea, brain-lung-thyroid syndrome, chorea, myoclonus dystonia, pituitary, empty sella

Relation: https://figshare.com/articles/media/Video_2_NKX2-1_New_Mutation_Associated_With_Myoclonus_Dystonia_and_Pituitary_Involvement_MP4/6993353

الاتاحة: https://doi.org/10.3389/fgene.2018.00335.s003
https://figshare.com/articles/media/Video_2_NKX2-1_New_Mutation_Associated_With_Myoclonus_Dystonia_and_Pituitary_Involvement_MP4/6993353