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: Durmus, Hacer^Aff1, Mertoğlu, Elif, Sticht, Heinrich, Ceylaner, Serdar, Kulaksızoğlu, Işın Baral, Hashemolhosseini, Said, Uçar, Evren Önay, Parman, Yesim

المصدر: Neurological Sciences. 42(9):3871-3878

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

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

المساهمون: Human genetics, Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D)

المصدر: American journal of human genetics, 103(3), 431-439. Cell Press
American journal of human genetics, vol 103, iss 3
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, Altmüller, J, Nürnberg, 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 2018, ' Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome ', American journal of human genetics, vol. 103, no. 3, pp. 431-439 . https://doi.org/10.1016/j.ajhg.2018.07.010
Am J Hum Genet
AJHG

مصطلحات موضوعية: 0301 basic medicine, SUDEP, Excitotoxicity, Cellular homeostasis, Neurodegenerative, medicine.disease_cause, ADP-ribosylhydrolase, Medical and Health Sciences, 2.1 Biological and endogenous factors, oxidative stress, Aetiology, Exome, Genetics (clinical), Genetics, Pediatric, Genetics & Heredity, PARG, Neurodegeneration, neurodegeneration, Biological Sciences, 3. Good health, Cell biology, Neurological, medicine.symptom, ADP-ribosylation, poly-ADP ribose, Ataxia, Poly ADP ribose polymerase, Biology, 03 medical and health sciences, Rare Diseases, Report, ARH3, medicine, ADPRHL2, Epilepsy, business.industry, Stress induced, ataxia, Neurosciences, Correction, Regret, epilepsy, neuropathy, medicine.disease, Human genetics, Brain Disorders, 030104 developmental biology, business, Oxidative stress

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87bc59b3f195d11b53a8bfb26ab74a02
https://research.vumc.nl/en/publications/6629fa90-62c6-421c-9dac-cfee9b27d6f0

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