نتائج البحث - "Hoffman Zacharska, Dorota"

1

دورية أكاديمية

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

المؤلفون: Vollstedt, Eva Juliane, Madoev, Harutyun, Aasly, Anna, Ahmad-Annuar, Azlina, Al-Mubarak, Bashayer, Alcalay, Roy N., Alvarez, Victoria, Amorin, Ignacio, Annesi, Grazia, Arkadir, David, Bardien, Soraya, Barker, Roger A., Barkhuizen, Melinda, Basak, A. Nazli, Bonifati, Vincenzo, Boon, Agnita, Brighina, Laura, Brockmann, Kathrin, Carmine Belin, Andrea, Carr, Jonathan, Clarimon, Jordi, Cornejo-Olivas, Mario, Correia Guedes, Leonor, Corvol, Jean Christophe, Crosiers, David, Damásio, Joana, Das, Parimal, de Carvalho Aguiar, Patricia, De Rosa, Anna, Dorszewska, Jolanta, Ertan, Sibel, Ferese, Rosangela, Ferreira, Joaquim, Gatto, Emilia, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycal, Hoffman-Zacharska, Dorota, Illarioshkin, Sergey N., Jankovic, Joseph, Jesús, Silvia, Kaasinen, Valtteri, Kievit, Anneke, Klivenyi, Peter, Kostic, Vladimir, Koziorowski, Dariusz, Kühn, Andrea A., Lang, Anthony E., Lim, Shen Yang, Lin, Chin Hsien, Lohmann, Katja, Markovic, Vladana, Martikainen, Mika Henrik, Mellick, George, Merello, Marcelo, Milanowski, Lukasz, Mir, Pablo, Öztop-Çakmak, Özgür, Pimentel, Márcia Mattos Gonçalves, Pulkes, Teeratorn, Puschmann, Andreas, Rogaeva, Ekaterina, Sammler, Esther M., Skaalum Petersen, Maria, Skorvanek, Matej, Spitz, Mariana, Suchowersky, Oksana, Tan, Ai Huey, Termsarasab, Pichet, Thaler, Avner, Tumas, Vitor, Valente, Enza Maria, van de Warrenburg, Bart, Williams-Gray, Caroline H., Wu, Ruey Mei, Zhang, Baorong, Zimprich, Alexander, Solle, Justin, Padmanabhan, Shalini, Klein, Christine

المصدر: Vollstedt , E J , Madoev , H , Aasly , A , Ahmad-Annuar , A , Al-Mubarak , B , Alcalay , R N , Alvarez , V , Amorin , I , Annesi , G , Arkadir , D , Bardien , S , Barker , R A , Barkhuizen , M , Basak , A N , Bonifati , V , Boon , A , Brighina , L , Brockmann , K , Carmine Belin , A , Carr , J , Clarimon , J , Cornejo-Olivas , M , Correia Guedes , L , Corvol ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/cfe4e1b0-8b1f-43cb-8842-4b742f5f018eTest

الإتاحة: https://doi.org/10.1371/journal.pone.0292180Test
https://pure.eur.nl/en/publications/cfe4e1b0-8b1f-43cb-8842-4b742f5f018eTest
https://pure.eur.nl/ws/files/102760773/Establishing_an_online_resource_to_facilitate_global_collaboration_and_inclusion_of_underrepresented_populations.pdfTest
http://www.scopus.com/inward/record.url?scp=85172999938&partnerID=8YFLogxKTest

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2

دورية أكاديمية

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

المؤلفون: Vollstedt, Eva-Juliane, Madoev, Harutyun, Aasly, Anna, Ahmad-Annuar, Azlina, Al-Mubarak, Bashayer, Alcalay, Roy N., Alvarez, Victoria, Amorin, Ignacio, Annesi, Grazia, Arkadir, David, Bardien, Soraya, Barker, Roger A., Barkhuizen, Melinda, Basak, A. Nazli, Bonifati, Vincenzo, Boon, Agnita, Brighina, Laura, Brockmann, Kathrin, Carmine Belin, Andrea, Carr, Jonathan, Clarimon, Jordi, Cornejo-Olivas, Mario, Correia Guedes, Leonor, Corvol, Jean-Christophe, Crosiers, David, Damásio, Joana, Das, Parimal, de Carvalho Aguiar, Patricia, De Rosa, Anna, Dorszewska, Jolanta, Ertan, Sibel, Ferese, Rosangela, Ferreira, Joaquim, Gatto, Emilia, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycal, Hoffman-Zacharska, Dorota, Illarioshkin, Sergey N., Jankovic, Joseph, Jesús, Silvia, Kaasinen, Valtteri, Kievit, Anneke, Klivenyi, Peter, Kostic, Vladimir, Koziorowski, Dariusz, Kühn, Andrea A., Lang, Anthony E., Lim, Shen-Yang, Lin, Chin-Hsien, Lohmann, Katja, Markovic, Vladana, Martikainen, Mika Henrik, Mellick, George, Merello, Marcelo, Milanowski, Lukasz, Mir, Pablo, Öztop-Çakmak, Özgür, Pimentel, Márcia Mattos Gonçalves, Pulkes, Teeratorn, Puschmann, Andreas, Rogaeva, Ekaterina, Sammler, Esther M., Skaalum Petersen, Maria, Skorvanek, Matej, Spitz, Mariana, Suchowersky, Oksana, Tan, Ai Huey, Termsarasab, Pichet, Thaler, Avner, Tumas, Vitor, Valente, Enza Maria, van de Warrenburg, Bart, Williams-Gray, Caroline H., Wu, Ruey-Mei, Zhang, Baorong, Zimprich, Alexander, Solle, Justin, Padmanabhan, Shalini, Klein, Christine

المصدر: 1932-6203 ; PLoS ONE

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/001082402300024

الإتاحة: https://doi.org/10.1371/JOURNAL.PONE.0292180Test
https://hdl.handle.net/10067/1995240151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:19575Test

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3

دورية أكاديمية

How Has the Treatment of Polish Children with Dravet Syndrome Changed? Future Perspectives.

المؤلفون: Zielińska, Anita, Skarżyńska, Urszula, Górka-Skoczylas, Paulina, Mazurczak, Tomasz, Kuźniar-Pałka, Aleksandra, Kanabus, Karolina, Hoffman-Zacharska, Dorota, Stawicka, Elżbieta

المصدر: Biomedicines; Jun2024, Vol. 12 Issue 6, p1249, 9p

مصطلحات موضوعية: EPILEPSY, COST effectiveness, SYNDROMES in children, DRUG efficacy, ORPHAN drugs, MOLECULAR genetics

مصطلحات جغرافية: WARSAW (Poland), POLAND

النص الكامل

4

دورية أكاديمية

SCN1A —Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.

المؤلفون: Stawicka, Elżbieta, Zielińska, Anita, Górka-Skoczylas, Paulina, Kanabus, Karolina, Tataj, Renata, Mazurczak, Tomasz, Hoffman-Zacharska, Dorota

المصدر: Current Issues in Molecular Biology; May2024, Vol. 46 Issue 5, p4437-4451, 15p

النص الكامل

5

دورية أكاديمية

ADCY5-related dyskinesia -- case series with literature review.

المؤلفون: Kozon, Katarzyna, Łysikowska, Weronika, Olszewski, Jakub, Milanowski, Łukasz, Figura, Monika, Mazurczak, Tomasz, Hoffman-Zacharska, Dorota, Koziorowski, Dariusz

المصدر: Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska; 2024, Vol. 58 Issue 2, p161-166, 6p

مصطلحات موضوعية: LITERATURE reviews, MOVEMENT disorders, DYSKINESIAS, ADENYLATE cyclase, NEUROLOGICAL disorders, CHOREA, GENETIC mutation

النص الكامل

6

دورية أكاديمية

Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.

المؤلفون: Witkowski, Grzegorz, Szulczyk, Bartlomiej, Nurowska, Ewa, Jurek, Marta, Pasierski, Michal, Lipiec, Agata, Charzewska, Agnieszka, Dawidziuk, Mateusz, Milewski, Michal, Owsiak, Szymon, Rola, Rafal, Sienkiewicz Jarosz, Halina, Hoffman-Zacharska, Dorota

المصدر: International Journal of Molecular Sciences; Feb2024, Vol. 25 Issue 3, p1745, 17p

مصطلحات موضوعية: SODIUM channels, PHENOTYPES, EPILEPSY, MOTOR neurons, GENETIC mutation, FEBRILE seizures, FAMILIAL spastic paraplegia

النص الكامل

7

دورية أكاديمية

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

المؤلفون: Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M. H., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, B. nédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Destrée, Anne, Schoonjans, An Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S.

المصدر: Johannesen , K M , Liu , Y , Koko , M , Gjerulfsen , C E , Sonnenberg , L , Schubert , J , Fenger , C D , Eltokhi , A , Rannap , M , Koch , N A , Lauxmann , S , Krüger , J , Kegele , J , Canafoglia , L , Franceschetti , S , Mayer , T , Rebstock , J , Zacher , P , Ruf , S , Alber , M , Sterbova , K , Lassuthová , P , Vlckova , M , Lemke , J ....

العلاقة: https://research.vumc.nl/en/publications/4003f414-31ea-4133-b28f-02979a4826dfTest

الإتاحة: https://doi.org/10.1093/brain/awab321Test
https://research.vumc.nl/en/publications/4003f414-31ea-4133-b28f-02979a4826dfTest
http://www.scopus.com/inward/record.url?scp=85138447351&partnerID=8YFLogxKTest

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8

دورية أكاديمية

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

المؤلفون: Schoonjans, An Sofie, Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, KrÃ¼ger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, LassuthovÃ¡, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P Y Billie, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, Braakman, Hilde M H, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, GrÃ¸nborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, BÃ©nÃ©dicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, VÃ¸llo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, GÃ©lisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, MÃ¼ller-SchlÃ¼ter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-CÃ©cile, DestrÃ©e, Anne

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pÃ©diatrique, UCL - (SLuc) Centre de rÃ©fÃ©rence pour l'Ã©pilepsie rÃ©fractaire

المصدر: Brain, Vol. 145, no.9, p. 2991-3009 (2022)

مصطلحات موضوعية: Epilepsy, Generalized, Epileptic Syndromes, Genetic Association Studies, Humans, Infant, Intellectual Disability, Mutation, NAV1.6 Voltage-Gated Sodium Channel, Prognosis, Seizures, Sodium Channel Blockers, SCN8A, genetics, personalized medicine