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Sorina Mihaela Papuc

victor babes national institute of pathology

14H指数
58论文数
792被引数
收录论文 19
发表时间
Understanding the Complexity of Sleep Disturbances in ASD: From Mechanisms to Management理解ASD中睡眠障碍的复杂性:从机制到管理
err2026-06-04
err0
errOAAI
errAdelina Glangher; Ina-Ofelia Focsa; Vanda Roxana Nimigean; Florentina Ionela Linca; Doina Ioana; Sorina Mihaela Papuc; Alina Erbescu-Dobre; Catrinel Iliescu; Carmen-Adella Sirbu; Magdalena Budisteanu
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De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathiesBAIAP2基因中的新发错义变异与发育性癫痫性脑病相关联
err2025-10-24
err0
PREAI
errGang Zhang; Yaping Lu; Lingling Xie; Anaïs Begemann; Sorina M. Papuc; Markus Zweier; Katharina Steindl; Anita Rauch; Johannes Adalbert Mayr; Johannes Koch; René Günther Feichtinger; Frances Elmslie; Luise Kulosik; Rami Abou Jamra; Stefani Harmsen; Shangyu Wang; Mingying He; Luyan Zhang; Wei Zhou; Chunli Wang; Xiuxiu Liu; Aihua Zhang; Bixia Zheng
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Rare Copy Number Variants Intersecting Parkinson’s-associated Genes in a Cohort of children With Autism Spectrum Disorders罕见拷贝数变异与帕金森相关基因在自闭症谱系障碍儿童队列中的交集
err2025-06-04
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errOAAI
errAlina Erbescu; Sorina Mihaela Papuc; Magdalena Budișteanu; Maria Dobre; Catrinel Iliescu; Mihail Eugen Hinescu; Aurora Arghir; Monica Neagu
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Review of structural neuroimaging and genetic findings in autism spectrum disorder - a clinical perspective
err2024-11-19
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errOAAI
errBudisteanu, Magdalena; Papuc, Sorina Mihaela; Erbescu, Alina; Glangher, Adelina; Andrei, Emanuela; Rad, Florina; Hinescu, Mihail Eugen; Arghir, Aurora
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A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants
err2024-09-27
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errOAAI
errPapuc, Sorina-Mihaela; Glangher, Adelina; Erbescu, Alina; Arsene, Oana Tarta; Arghir, Aurora; Budisteanu, Magdalena
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Re-emerging concepts of immune dysregulation in autism spectrum disorders
err2022-10-19
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errOAAI
errErbescu, Alina; Papuc, Sorina Mihaela; Budisteanu, Magdalena; Arghir, Aurora; Neagu, Monica
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Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study欧洲自闭症检测过程满意度的决定因素: ASDEU研究的结果
errAUTISM
IF5.6
err2022-03-09
err4
errOAAI
errGuillon, Quentin; Baduel, Sophie; Bejarano-Martin, Alvaro; Canal-Bedia, Ricardo; Magan-Maganto, Maria; Fernandez-Alvarez, Clara; Victoria Martin-Cilleros, Maria; Cruz Sanchez-Gomez, Maria; Garcia-Primo, Patricia; Rose-Sweeney, Mary; Boilson, Andrew; Linertova, Renata; Roeyers, Herbert; Van der Paelt, Sara; Schendel, Diana; Warberg, Christine Kloster; Cramer, Susanne; Narzisi, Antonio; Muratori, Filippo; Scattoni, Maria Luisa; Moilanen, Irma; Yliherva, Anneli; Saemundsen, Evald; Jonsdottir, Sigridur Loa; Efrim-Budisteanu, Magdalena; Arghir, Aurora; Papuc, Sorina Mihaela; Vicente, Astrid; Rasga, Celia; Kafka, Johanna Xenia; Poustka, Luise; Kothgassner, Oswald D.; Kawa, Rafal; Pisula, Ewa; Sellers, Tracey; Posada de la Paz, Manuel; Roge, Bernadette
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Early detection, diagnosis and intervention services for children with autism spectrum disorder across europe according to the gross domestic product
err2021-12-01
err0
PREAI
errBejarano-Martin, A.; Canal-Bedia, R.; Magan-Maganto, M.; Fernandez-Alvarez, C.; Martin-Cilleros, M. V.; Sanchez-Gomez, M. C.; Garcia-Primo, P.; Rose-Sweeney, M.; Boilson, A.; Linertova, R.; Roeyers, H.; Van der Paelt, S.; Schendel, D.; Warberg, C.; Cramer, S.; Narzisi, A.; Muratori, F.; Scatonni, M. L.; Moilanen, I.; Yliherva, A.; Saemundsen, E.; Jonsdottir, S. L.; Efrim-Budisteanu, M.; Arghir, A.; Papuc, S. Mihaela; Vicente, A.; Rasga, C.; Roge, B.; Guillon, Q.; Baduel, S.; Kafka, J. Xenia; Kothgassner, O.; Poustka, L.; Kawa, R.; Pisula, E.; Sellers, T.; Posada de la Paz, M.
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Multidisciplinary approach in children with autism spectrum disorder自闭症谱系障碍儿童的多学科方法
err2021-08-13
err0
errOAAI
errStanciu, A. C.; Rad, F.; Mihailescu, I.; Mateescu, L.; Grozavescu, R.; Andrei, E.; Budisteanu, B.; Linca, F.; Ioana, D.; Iliescu, C.; Papuc, S.; Arghir, A.; Dobrescu, I.; Budisteanu, M.
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The psychiatric phenotype of 15q11.2-q13.3 duplications
err2021-08-13
err0
errOAAI
errBudisteanu, M.; Papuc, S.; Erbescu, A.; Andrei, E.; Streata, I.; Cucu, M.; Iliescu, C.; Anghelescu, C.; Ioana, D.; Ioana, M.; Rad, F.; Arghir, A.
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Behavior problems associated with brain heterotopia
err2021-08-13
err0
errOAAI
errBudisteanu, M.; Papuc, S.; Erbescu, A.; Iliescu, C.; Dobre, M.; Barca, D.; Tarta-Arsene, O.; Motoescu, C.; Dica, A.; Sandu, C.; Anghelescu, C.; Craiu, D.; Arghir, A.
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Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives (October, 10.1007/S10803-019-04253-0, 2019)
err2019-11-28
err2
errOAAI
errBejarano-Martin, Alvaro; Canal-Bedia, Ricardo; Magan-Maganto, Maria; Fernandez-Alvarez, Clara; Victoria Martin-Cilleros, Maria; Cruz Sanchez-Gomez, Maria; Garcia-Primo, Patricia; Rose-Sweeney, Mary; Boilson, Andrew; Linertova, Renata; Roeyers, Herbert; Van der Paelt, Sara; Schendel, Diana; Warberg, Christine; Cramer, Susanne; Narzisi, Antonio; Muratori, Filippo; Scattoni, Maria Luisa; Moilanen, Irma; Yliherva, Anneli; Saemundsen, Evald; Jonsdottir, Sigridur Loa; Efrim-Budisteanu, Magdalena; Arghir, Aurora; Papuc, Sorina Mihaela; Vicente, Astrid; Rasga, Celia; Roge, Bernadette; Guillon, Quentin; Baduel, Sophie; Kafka, Johanna Xenia; Poustka, Luise; Kothgassner, Oswald D.; Kawa, Rafal; Pisula, Ewa; Sellers, Tracey; Posada de la Paz, Manuel
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Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives
err2019-10-12
err48
errOAAI
errBejarano-Martin, Alvaro; Canal-Bedia, Ricardo; Magan-Maganto, Maria; Fernandez-Alvarez, Clara; Cilleros-Martin, Maria Victoria; Sanchez-Gomez, Maria Cruz; Garcia-Primo, Patricia; Rose-Sweeney, Mary; Boilson, Andrew; Linertova, Renata; Roeyers, Herbert; Van der Paelt, Sara; Schendel, Diana; Warberg, Christine; Cramer, Susanne; Narzisi, Antonio; Muratori, Filippo; Scattoni, Maria Luisa; Moilanen, Irma; Yliherva, Anneli; Saemundsen, Evald; Loa Jonsdottir, Sigridur; Efrim-Budisteanu, Magdalena; Arghir, Aurora; Papuc, Sorina Mihaela; Vicente, Astrid; Rasga, Celia; Roge, Bernadette; Guillon, Quentin; Baduel, Sophie; Kafka, Johanna Xenia; Poustka, Luise; Kothgassner, Oswald D.; Kawa, Rafal; Pisula, Ewa; Sellers, Tracey; Posada de la Paz, Manuel
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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
err2018-12-14
err58
errOAAI
errPapuc, Sorina M.; Abela, Lucia; Steindl, Katharina; Begemann, Anais; Simmons, Thomas L.; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M.; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; Iff, Tobias; Schmitt-Mechelke, Thomas; Otten, Karoline; Hackenberg, Annette; Addor, Marie-Claude; Klein, Andrea; Azzarello-Burri, Silvia; Sticht, Heinrich; Joset, Pascal; Plecko, Barbara; Rauch, Anita
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Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy
err2017-04-08
err58
PREAI
errPlecko, Barbara; Zweier, Markus; Begemann, Anais; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M.; Joset, Pascal; Sticht, Heinrich; Papuc, Sorina Mihaela; Rauch, Anita
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Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways
err2016-01-10
err54
errOAAI
errLalli, Matthew A.; Jang, Jiwon; Park, Joo-Hye C.; Wang, Yidi; Guzman, Elmer; Zhou, Hongjun; Audouard, Morgane; Bridges, Daniel; Tovar, Kenneth R.; Papuc, Sorina M.; Tutulan-Cunita, Andreea C.; Huang, Yadong; Budisteanu, Magdalena; Arghir, Aurora; Kosik, Kenneth S.
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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
err2015-02-27
err42
errOAAI
errBauer, Michael; Koelsch, Uwe; Krueger, Renate; Unterwalder, Nadine; Hameister, Karin; Kaiser, Fabian Marc; Vignoli, Aglaia; Rossi, Rainer; Pilar Botella, Maria; Budisteanu, Magdalena; Rosello, Monica; Orellana, Carmen; Isabel Tejada, Maria; Papuc, Sorina Mihaela; Patat, Oliver; Julia, Sophie; Touraine, Renaud; Gomes, Thusari; Wenner, Kirsten; Xu, Xiu; Afenjar, Alexandra; Toutain, Annick; Philip, Nicole; Jezela-Stanek, Aleksandra; Gortner, Ludwig; Martinez, Francisco; Echenne, Bernard; Wahn, Volker; Meisel, Christian; Wieczorek, Dagmar; El-Chehadeh, Salima; Van Esch, Hilde; von Bernuth, Horst
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Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture
err2012-05-01
err2
PREAI
errTutulan-Cunita, Andreea Cristina; Budisteanu, Magdalena; Papuc, Sorina Mihaela; Dupont, Jean-Michel; Blancho, Dominique; Lebbar, Aziza; Viot, Geraldine; Lungeanu, Agripina; Arghir, Aurora
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Novel clinical finding in MECP2 duplication syndrome
err2011-05-18
err11
errOAAI
errBudisteanu, Magdalena; Papuc, Sorina Mihaela; Tutulan-Cunita, Andreea; Budisteanu, Bogdan; Arghir, Aurora
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