المؤلفون: Zanuttigh, Enrica, Derderian, Kevork, Güra, Miriam A., Geerlof, Arie, Di Meo, Ivano, Cavestro, Chiara, Hempfling, Stefan, Ortiz-Collazos, Stephanie, Mauthe, Mario, Kmieć, Tomasz, Cammarota, Eugenia, Panzeri, Maria Carla, Klopstock, Thomas, Sattler, Michael, Winkelmann, Juliane, Messias, Ana C., Iuso, Arcangela

المصدر: Zanuttigh , E , Derderian , K , Güra , M A , Geerlof , A , Di Meo , I , Cavestro , C , Hempfling , S , Ortiz-Collazos , S , Mauthe , M , Kmieć , T , Cammarota , E , Panzeri , M C , Klopstock , T , Sattler , M , Winkelmann , J , Messias , A C & Iuso , A 2023 , ' Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro ' , Pharmaceutics , vol. ....

مصطلحات موضوعية: ABT-737, autophagy, C19orf12, carbamazepine, LC3, LY294002, mitochondria membrane protein-associated neurodegeneration (MPAN), neurodegeneration with brain iron accumulation (NBIA), oridonin, paroxetine

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/9c128a89-1d69-4227-ae9e-a96c1b45dd77
https://research.rug.nl/en/publications/9c128a89-1d69-4227-ae9e-a96c1b45dd77
https://doi.org/10.3390/pharmaceutics15010267
https://pure.rug.nl/ws/files/851855558/Identification_of_Autophagy_as_a_Functional_Target_Suitable_for_the_Pharmacological_Treatment_of_Mitochondrial_Membrane_Protein-Associated_Neurodegeneration_MPAN_In_Vitro.pdf
http://www.scopus.com/inward/record.url?scp=85146742072&partnerID=8YFLogxK

المؤلفون: Purzycka-Olewiecka, Joanna Karolina, Hetmańczyk-Sawicka, Katarzyna, Kmieć, Tomasz, Szczęśniak, Dominika, Trubicka, Joanna, Krawczyński, Maciej, Pronicki, Maciej, Ługowska, Agnieszka

المصدر: Metabolic Brain Disease ; volume 38, issue 2, page 709-715 ; ISSN 0885-7490 1573-7365

الاتاحة: http://dx.doi.org/10.1007/s11011-022-01148-5
https://link.springer.com/content/pdf/10.1007/s11011-022-01148-5.pdf
https://link.springer.com/article/10.1007/s11011-022-01148-5/fulltext.html

المؤلفون: Dubey, Abhishek Anil, Krygier, Magdalena, Szulc, Natalia A, Rutkowska, Karolina, Kosińska, Joanna, Pollak, Agnieszka, Rydzanicz, Małgorzata, Kmieć, Tomasz, Mazurkiewicz-Bełdzińska, Maria, Pokrzywa, Wojciech, Płoski, Rafał

المساهمون: National Science Centre

المصدر: Human Molecular Genetics ; volume 32, issue 7, page 1152-1161 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الاتاحة: http://dx.doi.org/10.1093/hmg/ddac276
https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac276/47765278/ddac276.pdf
https://academic.oup.com/hmg/article-pdf/32/7/1152/53587611/ddac276.pdf

المؤلفون: Iankova, Vassilena, Sparber, Peter, Rohani, Mohammad, Dusek, Petr, Büchner, Boriana, Karin, Ivan, Schneider, Susanne A, Gorriz, Juan M, Kmiec, Tomasz, Klopstock, Thomas

المصدر: Brain: A Journal of Neurology; Apr2024, Vol. 147 Issue 4, p1389-1398, 10p

مصطلحات موضوعية: MITOCHONDRIAL membranes, NATURAL history, NEURODEGENERATION, PARKINSON'S disease, PHENOTYPES

المؤلفون: Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy Es, Burke, Derek, Demailly, Diane, Kumar, Kishore R, Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik-Jan, Tijssen, Marina A, Verschuuren, Corien, van Egmond, Martje E, Flowers, Joanna M, McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I, Gonzalez-Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M, Peall, Kathryn J, Bötzel, Kai, Koch, Jan C, Kmieć, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J, Sue, Carolyn M, Cif, Laura, Mencacci, Niccolò E

المصدر: Genomics England Research Consortium , Steel , D , Zech , M , Zhao , C , Barwick , K E , Burke , D , Demailly , D , Kumar , K R , Zorzi , G , Nardocci , N , Kaiyrzhanov , R , Wagner , M , Iuso , A , Berutti , R , Škorvánek , M , Necpál , J , Davis , R , Wiethoff , S , Mankad , K , Sudhakar , S , Ferrini , A , Sharma , S , Kamsteeg , E-J , Tijssen , M A ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/1a1ad90a-f2ce-4725-a997-f0ece20786a9
https://research.rug.nl/en/publications/1a1ad90a-f2ce-4725-a997-f0ece20786a9
https://doi.org/10.1002/ana.25879
https://pure.rug.nl/ws/files/154955933/Loss_of_Function_Variants_in_HOPS_Complex_Genes_VPS16_and_VPS41_Cause_Early_Onset_Dystonia_Associated_with_Lysosomal_Abnormalities.pdf

المؤلفون: Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa‐vela, Marta, Escolar, Maria, L, Fraser, Jamie, L, Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder, A, Kmiec, Tomasz, Lang, Anthony, Martí, Maria, J, Mercimek-Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A.M., Perez-Dueñas, Belen, Pfeiffer, Helle Cecilie Viekilde, Planellas, Lluis, Roze, Emmanuel, Thakur, Nivedita, Tochen, Laura, Vanegas-Arroyave, Nora, Zorzi, Giovanna, Burns, Colleen, Greblikas, Feriandas

المساهمون: CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neurochirurgie CHRU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0885-3185.

مصطلحات موضوعية: pantothenate kinase–associated neurodegeneration, fosmetpantotenate, treatment, randomized controlled trial, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/33200489; hal-04514856; https://hal.sorbonne-universite.fr/hal-04514856; https://hal.sorbonne-universite.fr/hal-04514856/document; https://hal.sorbonne-universite.fr/hal-04514856/file/Movement%20Disorders%20-%202020%20-%20Klopstock%20-%20Fosmetpantotenate%20Randomized%20Controlled%20Trial%20in%20Pantothenate%20Kinase%20Associated.pdf; PUBMED: 33200489; PUBMEDCENTRAL: PMC8246547

الاتاحة: https://hal.sorbonne-universite.fr/hal-04514856
https://hal.sorbonne-universite.fr/hal-04514856/document
https://hal.sorbonne-universite.fr/hal-04514856/file/Movement%20Disorders%20-%202020%20-%20Klopstock%20-%20Fosmetpantotenate%20Randomized%20Controlled%20Trial%20in%20Pantothenate%20Kinase%20Associated.pdf
https://doi.org/10.1002/mds.28392

المؤلفون: Dusek, Petr, Mekle, Ralf, Skowronska, Marta, Acosta‐Cabronero, Julio, Huelnhagen, Till, Robinson, Simon Daniel, Schubert, Florian, Deschauer, Marcus, Els, Antje, Ittermann, Bernd, Schottmann, Gudrun, Madai, Vince I., Paul, Friedemann, Klopstock, Thomas, Kmiec, Tomasz, Niendorf, Thoralf, Wuerfel, Jens, Schneider, Susanne A.

المساهمون: Else Kröner-Fresenius-Stiftung, European Commission, Eva Luise und Horst Köhler Stiftung

المصدر: Movement Disorders ; volume 35, issue 1, page 142-150 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.27827
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.27827
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.27827
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mds.27827

المؤلفون: Iankova, Vassilena, Sparber, Peter, Rohani, Mohammad, Dusek, Petr, Büchner, Boriana, Karin, Ivan, Schneider, Susanne A, Gorriz, Juan M, Kmiec, Tomasz, Klopstock, Thomas

المساهمون: TIRCON, European Commission 7th Framework Programme, ApoPharma Inc, CoA Therapeutics, Retrophin, Inc

المصدر: Brain ; volume 147, issue 4, page 1389-1398 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awad357
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad357/56912000/awad357.pdf
https://academic.oup.com/brain/article-pdf/147/4/1389/57162880/awad357.pdf

المؤلفون: Kutkowska-Kazmierczak, Anna, Rydzanicz, Małgorzata, Chlebowski, Aleksander, Kłosowska-Kosicka, Kamila, Mika, Adriana, Gruchota, Jakub, Jurkiewicz, Elzbieta, Kowalewski, Cezary, Pollak, Agnieszka, Stradomska, Teresa Joanna, Kmiec, Tomasz, Jakubowski, Rafał, Gasperowicz, Piotr, Walczak, Anna, Sladowski, Dariusz, Jankowska-Steifer, Ewa, Korniszewski, Lech, Kosinska, Joanna, Obersztyn, Ewa, Nowak, Wieslaw, Sledzinski, Tomasz, Dziembowski, Andrzej, Płoski, Rafał

مصطلحات موضوعية: New disease loci

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/55/6/408; http://dx.doi.org/10.1136/jmedgenet-2017-105172

الاتاحة: http://jmg.bmj.com/cgi/content/short/55/6/408
https://doi.org/10.1136/jmedgenet-2017-105172

المؤلفون: Skowronska, Marta, Kmiec, Tomasz, Czlonkowska, Anna, Kurkowska-Jastrzębska, Iwona

المساهمون: the Polish Ministy of Science and Higher Education

المصدر: Clinical Neuroradiology ; volume 28, issue 3, page 385-392 ; ISSN 1869-1439 1869-1447

الاتاحة: http://dx.doi.org/10.1007/s00062-017-0577-9
http://link.springer.com/article/10.1007/s00062-017-0577-9/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00062-017-0577-9.pdf

المؤلفون: Golanska, Ewa, Gajos, Agata, Sieruta, Monika, Szybka, Malgorzata, Rudzinska, Monika, Ochudlo, Stanislaw, Kmiec, Tomasz, Liberski, Pawel P., Bogucki, Andrzej

المساهمون: Gonzalez-Alegre, Pedro

المصدر: PLOS ONE ; volume 10, issue 6, page e0129656 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0129656
http://dx.plos.org/10.1371/journal.pone.0129656

المؤلفون: Kaczorowska, Magdalena, Jurkiewicz, Elżbieta, Domańska-Pakieła, Dorota, Syczewska, Małgorzata, Łojszczyk, Barbara, Chmielewski, Dariusz, Kotulska, Katarzyna, Kuczyński, Dariusz, Kmieć, Tomasz, Dunin-Wąsowicz, Dorota, Kasprzyk-Obara, Jolanta, Jóźwiak, Sergiusz

المصدر: Epilepsia ; volume 52, issue 1, page 22-27 ; ISSN 0013-9580

الاتاحة: http://dx.doi.org/10.1111/j.1528-1167.2010.02892.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1528-1167.2010.02892.x
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2010.02892.x/fullpdf

المؤلفون: Hartig, Monika B., Iuso, Arcangela, Haack, Tobias, Kmiec, Tomasz, Jurkiewicz, Elzbieta, Heim, Katharina, Roeber, Sigrun, Tarabin, Victoria, Dusi, Sabrina, Krajewska-Walasek, Malgorzata, Jozwiak, Sergiusz, Hempel, Maja, Winkelmann, Juliane, Elstner, Matthias, Oexle, Konrad, Klopstock, Thomas, Mueller-Felber, Wolfgang, Gasser, Thomas, Trenkwalder, Claudia, Tiranti, Valeria, Kretzschmar, Hans, Schmitz, Gerd, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger

المصدر: The American Journal of Human Genetics ; volume 89, issue 4, page 543-550 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2011.09.007
https://api.elsevier.com/content/article/PII:S0002929711003971?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929711003971?httpAccept=text/plain

المؤلفون: Jóźwiak, Sergiusz, Kotulska, Katarzyna, Domańska-Pakieła, Dorota, Łojszczyk, Barbara, Syczewska, Małgorzata, Chmielewski, Dariusz, Dunin-Wąsowicz, Dorota, Kmieć, Tomasz, Szymkiewicz-Dangel, Joanna, Kornacka, Maria, Kawalec, Wanda, Kuczyński, Dariusz, Borkowska, Julita, Tomaszek, Katarzyna, Jurkiewicz, Elżbieta, Respondek-Liberska, Maria

المصدر: European Journal of Paediatric Neurology ; volume 15, issue 5, page 424-431 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2011.03.010
https://api.elsevier.com/content/article/PII:S1090379811000456?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379811000456?httpAccept=text/plain

المؤلفون: Jozwiak, Sergiusz, Habich, Aleksandra, Kotulska, Katarzyna, Sarnowska, Anna, Kropiwnicki, Tomasz, Janowski, Miroslaw, Jurkiewicz, Elzbieta, Lukomska, Barbara, Kmiec, Tomasz, Walecki, Jerzy, Roszkowski, Marcin, Litwin, Mieczyslaw, Oldak, Tomasz, Boruczkowski, Dariusz, Domanska-Janik, Krystyna

المصدر: Cell Medicine ; volume 1, issue 2, page 71-80 ; ISSN 2155-1790 2155-1790

الاتاحة: http://dx.doi.org/10.3727/215517910x536618
http://journals.sagepub.com/doi/pdf/10.3727/215517910X536618
http://journals.sagepub.com/doi/full-xml/10.3727/215517910X536618

المؤلفون: Kaczorowska, Magdalena, Kmiec, Tomasz, Jakobs, Cornelis, Kacinski, Marek, Kroczka, Slawomir, Salomons, Gajja S., Struys, Eduard A., Jozwiak, Sergiusz

المصدر: Journal of Child Neurology ; volume 23, issue 12, page 1455-1459 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/0883073808318543
https://journals.sagepub.com/doi/pdf/10.1177/0883073808318543

المؤلفون: Jurkiewicz, Elżbieta, Pakufa-Kościesza, Iwona, Mierzewska, Hanna, Bekiesińska-Figatowska, Monika, Salomons, Gajja S, Kmieć, Tomasz, Walecki, Jerzy

مصطلحات موضوعية: Alexander's disease, magnetic resonance imaging MRI, proton spectroscopy HMRS

Relation: Polish Journal of Radiology, T. 71, nr 1, s. 93-99; https://ruj.uj.edu.pl/xmlui/handle/item/81501; http://archiwum.inforadiologia.pl/download/index/idArt/445743.html

الاتاحة: https://ruj.uj.edu.pl/xmlui/handle/item/81501
http://archiwum.inforadiologia.pl/download/index/idArt/445743.html

المؤلفون: Dusek, Petr, Mekle, Ralf, Skowronska, Marta, Acosta-Cabronero, Julio, Huelnhagen, Till, Robinson, Simon Daniel, Schubert, Florian, Deschauer, Marcus, Els, Antje, Ittermann, Bernd, Schottmann, Gudrun, Madai, Vince I., Paul, Friedemann, Klopstock, Thomas, Kmiec, Tomasz, Niendorf, Thoralf, Wuerfel, Jens, Schneider, Susanne A.

مصطلحات موضوعية: 7 Tesla MRI, glutamate, magnetic resonance spectroscopy, mitochondrial membrane protein–associated neurodegeneration (MPAN), neurodegeneration with brain iron accumulation (NBIA), quantitative susceptibility mapping, iron, 2728 Clinical Neurology, 2808 Neurology

Relation: orcid:0000-0001-7463-5162; 277984; ERN-RND: 3HP 767231; Not set; 15-25602A

الاتاحة: https://espace.library.uq.edu.au/view/UQ:3bb4d94

المؤلفون: Horvath, Rita, Klopstock, Thomas, Tricta, Fernando, Neumayr, Lynne, Karin, Ivan, Zorzi, Giovanna, Fradette, Caroline, Kmiec, Tomasz, Buchner, Boriana, Steele, Hannah E., Chinnery, Patrick F., Basu, Anna, Kupper, Clemens, Neuhofer, Christiane, Kalman, Bernadette, Dusek, Petr, Wilson, Ian, Zhao, Feng, Zibordi, Federica, Nardocci, Nardo, Aguilar, Christine, Hayflick, Susan J., Spino, Michael, Blamire, Andrew M., Hogarth, Penelope, Vichinsky, Elliott, Yapici, Zuhal

المساهمون: University of Munich ,, 266018

مصطلحات موضوعية: Dahili Tıp Bilimleri, KLİNİK NEUROLOJİ, Klinik Tıp, Klinik Tıp (MED), Tıp, Sağlık Bilimleri, Nöroloji

Relation: LANCET NEUROLOGY; Klopstock T., Tricta F., Neumayr L., Karin I., Zorzi G., Fradette C., Kmiec T., Buchner B., Steele H. E. , Horvath R., et al., "Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study", LANCET NEUROLOGY, cilt.18, ss.631-642, 2019; vv_1032021; av_8ce53507-8e35-489c-a4a3-b18db49fb0d0; http://hdl.handle.net/20.500.12627/95289; https://doi.org/10.1016/s1474-4422(19)30142-5; 18; 631; 642

الاتاحة: https://hdl.handle.net/20.500.12627/95289
https://doi.org/10.1016/s1474-4422(19)30142-5

المؤلفون: Klopstock, Thomas, Tricta, Fernando, Chinnery, Patrick F, Basu, Anna, Küpper, Clemens, Neuhofer, Christiane, Kálmán, Bernadette, Dušek, Petr, Yapici, Zuhal, Wilson, Ian, Zhao, Feng, Zibordi, Federica, Neumayr, Lynne, Nardocci, Nardo, Aguilar, Christine, Hayflick, Susan J, Spino, Michael, Blamire, Andrew M, Hogarth, Penelope, Vichinsky, Elliott, Karin, Ivan, Zorzi, Giovanna, Fradette, Caroline, Kmieć, Tomasz, Büchner, Boriana, Steele, Hannah E, Horvath, Rita

المصدر: The lancet / Neurology 18(7), 631-642 (2019). doi:10.1016/S1474-4422(19)30142-5

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Adult, Child, Preschool, Deferiprone: adverse effects, Deferiprone: therapeutic use, Disease Progression, Double-Blind Method, Female, Humans, Iron Chelating Agents: adverse effects, Iron Chelating Agents: therapeutic use, Male, Middle Aged, Pantothenate Kinase-Associated Neurodegeneration: drug therapy, Treatment Outcome, Young Adult

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:31202468; info:eu-repo/semantics/altIdentifier/issn/1474-4465; info:eu-repo/semantics/altIdentifier/issn/1474-4422; https://pub.dzne.de/record/140747; https://pub.dzne.de/search?p=id:%22DZNE-2020-07069%22

الاتاحة: https://pub.dzne.de/record/140747
https://pub.dzne.de/search?p=id:%22DZNE-2020-07069%22