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: Aijun Lu, Chunxia Dong, Bihong Chen, Lei Xie, Huaiqiang Hu

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: ADPRHL2, ARH3, CONDSIAS, novel phenotypes, histopathology, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.807291/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/7e3edc581fbc4ea98ac9a6912cb15d3a

المؤلفون: Ghosh S. G., Becker K., Huang H., Dixon-Salazar T., 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., Altmuller J., Nurnberg P., Thiele H., Yis U., Okur T. D., Polat A. I., Amiri N., Doosti M., Karimani E. G., Toosi M. B., Haddad G., Karakaya M., Wirth B., van Hagen J. M., Wolf N. I., Maroofian R., Houlden H., Cirak S., Gleeson J. G.

المساهمون: Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., 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., Altmuller, J., Nurnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., Gleeson, J. G.

مصطلحات موضوعية: ADP-ribosylation, ADPRHL2, ARH3, ataxia, epilepsy, neurodegeneration, neuropathy, oxidative stre, poly-ADP ribose, SUDEP

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30100084; info:eu-repo/semantics/altIdentifier/wos/WOS:000443819500012; volume:103; firstpage:431; lastpage:439; numberofpages:9; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11567/981628; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054734998

الاتاحة: http://hdl.handle.net/11567/981628
https://doi.org/10.1016/j.ajhg.2018.07.010

المؤلفون: Danhauser, K., Alhaddad, B., Makowski, C., Piekutowska-Abramczuk, D., Syrbe, S., Gomez-Ospina, N., Manning, M.A., Kostera-Pruszczyk, A., Krahn-Peper, C., Berutti, R., Kovács-Nagy, R., Gusic, M., Graf, E., Laugwitz, L., Röblitz, M., Wroblewski, A., Hartmann, H., Das, A.M., Bültmann, E., Fang, F., Xu, M., Schatz, U.A., Karall, D., Zellner, H., Haberlandt, E., Feichtinger, R.G., Mayr, J.A., Meitinger, T., Prokisch, H., Strom, T.M., Płoski, R., Hoffmann, G.F., Pronicki, M., Bonnen, P.E., Morlot, S., Haack, T.B.

المصدر: Am. J. Hum. Genet. 103, 817-825 (2018)

مصطلحات موضوعية: Adprhl2, Arh3, Parp, Ataxia, Cerebellar Atrophy, Neurodegeneration, Neuropathy, Posttranslational Modification, Ribosylation, Seizure

Relation: info:eu-repo/semantics/altIdentifier/pmid/30401461; info:eu-repo/semantics/altIdentifier/wos/WOS:000448942100016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54597
https://doi.org/10.1016/j.ajhg.2018.10.005

المؤلفون: Kernstock, S., Koch-Nolte, F., Mueller-Dieckmann, J., Weiss, M. S., Mueller-Dieckmann, C.

المصدر: Acta crystallographica / F 62, 227 (2006). doi:10.1107/S1744309106003435

مصطلحات موضوعية: info:eu-repo/classification/ddc/530, Cloning, Molecular, Crystallization: methods, Crystallography, X-Ray, Escherichia coli: metabolism, Glycoside Hydrolases: biosynthesis, Glycoside Hydrolases: chemistry, Glycoside Hydrolases: isolation & purification, Humans, Glycoside Hydrolases, ADPRHL2 protein, human

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1744-3091; info:eu-repo/semantics/altIdentifier/pmid/pmid:16511307; info:eu-repo/semantics/altIdentifier/wos/WOS:000235681500013; https://bib-pubdb1.desy.de/record/81151; https://bib-pubdb1.desy.de/search?p=id:%22PHPPUBDB-3016%22

الاتاحة: https://bib-pubdb1.desy.de/record/81151
https://bib-pubdb1.desy.de/search?p=id:%22PHPPUBDB-3016%22