المؤلفون: Ghosh, Shereen G, Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K, Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M, Efthymiou, Stephanie, Hanna, Michael G, Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B, Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M, Wolf, Nicole I, Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G

المصدر: American Journal of Human Genetics. 103(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Genetics, Biological Sciences, Epilepsy, Pediatric, Brain Disorders, Neurosciences, Rare Diseases, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, ADP-ribosylation, ADPRHL2, ARH3, SUDEP, ataxia, epilepsy, neurodegeneration, neuropathy, oxidative stress, poly-ADP ribose, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0p70k5s6

المؤلفون: Ebenhoch, Rebecca, Prinz, Simone, Kaltwasser, Susann, Mills, Deryck J., Meinecke, Robert, Rübbelke, Martin, Reinert, Dirk, Bauer, Margit, Weixler, Lisa, Zeeb, Markus, Vonck, Janet, Nar, Herbert

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Dec . 117(50), 31838-31849.

URL الوصول: https://www.jstor.org/stable/27005741

المؤلفون: Weixler, Lisa, Ikenga, Nonso Josephat, Žaja, Roko, Feijs, Karla, Voorneveld, Jim, Aydin, Gülcan, Bolte, Timo M. H. R., Momoh, Jeffrey, Bütepage, Mareike, Golzmann, Alexandra, Lüscher, Bernhard, Filippov, Dmitri V.

المصدر: Life science alliance 6(1), 1-19 (2023). doi:10.26508/lsa.202201455

مصطلحات موضوعية: info:eu-repo/classification/ddc/570

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/2575-1077; info:eu-repo/semantics/altIdentifier/pmid/pmid:36368907; info:eu-repo/semantics/altIdentifier/wos/WOS:000885370200002

الاتاحة: https://publications.rwth-aachen.de/record/861785
https://publications.rwth-aachen.de/search?p=id:%22RWTH-2023-00227%22

المؤلفون: Weixler, Lisa, Feijs, Karla, Žaja, Roko

المصدر: Nucleic acids research : NAR 50(16), 9426-9441 (2022). doi:10.1093/nar/gkac711

مصطلحات موضوعية: info:eu-repo/classification/ddc/540

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0305-1048; info:eu-repo/semantics/altIdentifier/wos/WOS:000846442600001; info:eu-repo/semantics/altIdentifier/issn/0301-5610; info:eu-repo/semantics/altIdentifier/issn/1362-4954; info:eu-repo/semantics/altIdentifier/pmid/pmid:36018800; info:eu-repo/semantics/altIdentifier/issn/1362-4962; https://publications.rwth-aachen.de/record/853542; https://publications.rwth-aachen.de/search?p=id:%22RWTH-2022-08916%22

الاتاحة: https://publications.rwth-aachen.de/record/853542
https://publications.rwth-aachen.de/search?p=id:%22RWTH-2022-08916%22

المؤلفون: Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.

المصدر: Ghosh , S G , Becker , K , Huang , H , Salazar , T D , Chai , G , Salpietro , V , Al-Gazali , L , Waisfisz , Q , Wang , H , Vaux , K K , Stanley , V , Manole , A , Akpulat , U , Weiss , M M , Efthymiou , S , Hanna , M G , Minetti , C , Striano , P , Pisciotta , L , De Grandis , E , Altmüller , J , Weixler , L , Nürnberg , P , Thiele ....

الاتاحة: https://research.vumc.nl/en/publications/fd026b05-2418-46f0-aba8-18fb4b7a3570
https://doi.org/10.1016/j.ajhg.2021.11.013
http://www.scopus.com/inward/record.url?scp=85119899608&partnerID=8YFLogxK

المؤلفون: Weixler, Lisa, Schäringer, Katja, Momoh, Jeffrey, Lüscher, Bernhard, Feijs, Karla, Žaja, Roko

المصدر: Nucleic acids research / Special publication 49(7), 3634-3650 (2021). doi:10.1093/nar/gkab136

مصطلحات موضوعية: info:eu-repo/classification/ddc/540

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0305-1048; info:eu-repo/semantics/altIdentifier/pmid/pmid:33693930; info:eu-repo/semantics/altIdentifier/issn/1362-4962; info:eu-repo/semantics/altIdentifier/wos/WOS:000649006000009; https://publications.rwth-aachen.de/record/821277; https://publications.rwth-aachen.de/search?p=id:%22RWTH-2021-06152%22

الاتاحة: https://publications.rwth-aachen.de/record/821277
https://publications.rwth-aachen.de/search?p=id:%22RWTH-2021-06152%22

المؤلفون: Weixler, Lisa, Schäringer, Katja, Momoh, Jeffrey, Lüscher, Bernhard, Feijs, Karla L H, Žaja, Roko

المساهمون: RWTH Aachen University, German Research Foundation

المصدر: Nucleic Acids Research ; volume 49, issue 7, page 3634-3650 ; ISSN 0305-1048 1362-4962

الاتاحة: http://dx.doi.org/10.1093/nar/gkab136
http://academic.oup.com/nar/article-pdf/49/7/3634/37123743/gkab136.pdf

المؤلفون: Weixler, Lisa

المساهمون: Lüscher, Bernhard, Ostareck, Dirk

المصدر: Aachen : RWTH Aachen University 1 Online-Ressource : Illustrationen (2024). doi:10.18154/RWTH-2024-06167 = Dissertation, RWTH Aachen University, 2024

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, ADP-Ribose, PARP, RNA-Modifikation, RNA-modification, TRPT1, mRNA-Cap

جغرافية الموضوع: DE

Relation: https://publications.rwth-aachen.de/record/988418; https://publications.rwth-aachen.de/search?p=id:%22RWTH-2024-06167%22

الاتاحة: https://publications.rwth-aachen.de/record/988418
https://publications.rwth-aachen.de/search?p=id:%22RWTH-2024-06167%22

المؤلفون: Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmuller, Janine, Weixler, Lisa, Nurnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.

مصطلحات موضوعية: ddc:no

Relation: Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten orcid:0000-0002-7384-9182 , Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie orcid:0000-0003-4900-9877 , Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmuller, Janine, Weixler, Lisa orcid:0000-0003-4453-017X , Nurnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2021). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018). Am. J. Hum. Genet., 108 (12). S. 2385 - 2386. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

الاتاحة: https://kups.ub.uni-koeln.de/56525/