-
1دورية أكاديمية
المؤلفون: Stenton, SL, Tesarova, M, Sheremet, NL, Catarino, C, Carelli, V, Ciara, E, Curry, K, Engvall, M, Fleming, LR, Freisinger, P, Iwanicka-Pronicka, K, Jurkiewicz, E, Klopstock, T, Koenig, MK, Kolarova, H, Kousal, B, Krylova, T, La Morgia, C, Noskova, L, Piekutowska-Abramczuk, D, Russo, SN, Stranecky, V, Tothova, I, Traisk, F, Prokisch, H
المصدر: Brain : a journal of neurology. 145(5):1624-1631
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: Yepez V. A., Gusic M., Kopajtich R., Mertes C., Smith N. H., Alston C. L., Ban R., Beblo S., Berutti R., Blessing H., Ciara E., Distelmaier F., Freisinger P., Haberle J., Hayflick S. J., Hempel M., Itkis Y. S., Kishita Y., Klopstock T., Krylova T. D., Lamperti C., Lenz D., Makowski C., Mosegaard S., Muller M. F., Munoz-Pujol G., Nadel A., Ohtake A., Okazaki Y., Procopio E., Schwarzmayr T., Smet J., Staufner C., Stenton S. L., Strom T. M., Terrile C., Tort F., Van Coster R., Vanlander A., Wagner M., Xu M., Fang F., Ghezzi D., Mayr J. A., Piekutowska-Abramczuk D., Ribes A., Rotig A., Taylor R. W., Wortmann S. B., Murayama K., Meitinger T., Gagneur J., Prokisch H.
المساهمون: V.A. Yepez, M. Gusic, R. Kopajtich, C. Merte, N.H. Smith, C.L. Alston, R. Ban, S. Beblo, R. Berutti, H. Blessing, E. Ciara, F. Distelmaier, P. Freisinger, J. Haberle, S.J. Hayflick, M. Hempel, Y.S. Itki, Y. Kishita, T. Klopstock, T.D. Krylova, C. Lamperti, D. Lenz, C. Makowski, S. Mosegaard, M.F. Muller, G. Munoz-Pujol, A. Nadel, A. Ohtake, Y. Okazaki, E. Procopio, T. Schwarzmayr, J. Smet, C. Staufner, S.L. Stenton, T.M. Strom, C. Terrile, F. Tort, R. Van Coster, A. Vanlander, M. Wagner, M. Xu, F. Fang, D. Ghezzi, J.A. Mayr, D. Piekutowska-Abramczuk, A. Ribe, A. Rotig, R.W. Taylor, S.B. Wortmann, K. Murayama, T. Meitinger, J. Gagneur, H. Prokisch
مصطلحات موضوعية: Genetic diagnostic, Mendelian disease, RNA-seq, Allele, Human, Sequence Analysis, RNA, Whole Exome Sequencing, Transcriptome, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35379322; info:eu-repo/semantics/altIdentifier/wos/WOS:000778002100001; volume:14; issue:1; firstpage:1; lastpage:26; numberofpages:26; journal:GENOME MEDICINE; https://hdl.handle.net/2434/926220Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470335
-
3دورية أكاديمية
المؤلفون: Scala, M., Wortmann, S.B., Kaya, N., Stellingwerff, M.D., Pistorio, A., Glamuzina, E., van Karnebeek, C.D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T.B., Prokisch, H., Aldhalaan, H., Karimiani, E.G., Yildiz, Y., Ceylan, A.C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M.B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H.S., Maqbool, S., Farid, A., Al-Muhaizea, M.A., Alshwameen, M.O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A.H., AlRasheed, M.M., Colak, D., Alqudairy, H., Khan, S., Lines, M.A., Cazorla, M.A.G., Ribes, A., Morava, E., Bierau, J., van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry H.
المصدر: Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan ....
مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities, NUCLEOTIDE POOLS, MUTATIONS, RETARDATION, ASSOCIATION, GROWTH
الإتاحة: https://doi.org/10.1002/humu.24326Test
https://cris.maastrichtuniversity.nl/en/publications/4a65fa63-9e65-4f68-9186-ac4e7e5c9167Test -
4دورية أكاديمية
المؤلفون: Scala, M, Wortmann, SB, Kaya, N, Stellingwerff, MD, Pistorio, A, Glamuzina, E, van Karnebeek, CD, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, TB, Prokisch, H, Aldhalaan, H, Karimiani, EG, Yildiz, Y, Ceylan, AC, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, MB, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Maqbool, S, Farid, A, Al-Muhaizea, MA, Alshwameen, MO, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, AH, AlRasheed, MM, Colak, D, Alqudairy, H, Khan, S, Lines, MA, Cazorla, MAG, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, MP, Taylor, JC, Alsaif, HS, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, QS, Schmitt-Mechelke, T, Ziegler, A, Issa, MY, Elbendary, HM, Striano, P, Alkuraya, FS, Zaki, MS, Gleeson, JG, Barakat, TS, Bierau, J, van der Knaap, MS, Maroofian, R, Houlden, H
المصدر: Human Mutation (2022) (In press).
مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10142352Test/
-
5دورية أكاديمية
المؤلفون: Stenton, S., Piekutowska-Abramczuk, D., Kulterer, L., Kopajtich, R., Claeys, K.G., Ciara, E., Eisen, J., Płoski, R., Pronicka, E., Malczyk, K., Wagner, M., Wortmann, S.B., Prokisch, H.
المصدر: Hum. Mutat. 42, 310-319 (2021)
مصطلحات موضوعية: Functional Validation, Leigh Syndrome, Mitochondrial Disease, Phenotype, Variant Of Uncertain Significance
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33348459; info:eu-repo/semantics/altIdentifier/wos/WOS:000604115700001; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60970Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004
الإتاحة: https://doi.org/10.1002/humu.24160Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60970Test -
6
المؤلفون: Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schroter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, Niklas, 1964, Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W. Y., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Muller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rotig, A., Santer, R., Scaglia, F., Sehiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J. S., Weghuber, D., Wortmann, S.
المصدر: Genetics in Medicine. 25(6)
مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, Acute liver failure, Cysteine, Liver transplantation, Mitochondrial disease, Reversible
الوصول الحر: https://gup.ub.gu.se/publication/329166Test
-
7دورية أكاديمية
المؤلفون: Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS
العلاقة: pii: ACN3780; Hayhurst, H., de Coo, I. F. M., Piekutowska-Abramczuk, D., Alston, C. L., Sharma, S., Thompson, K., Rius, R., He, L., Hopton, S., Ploski, R., Ciara, E., Lake, N. J., Compton, A. G., Delatycki, M. B., Verrips, A., Bonnen, P. E., Jones, S. A., Morris, A. A., Shakespeare, D. ,. Ng, Y. S. (2019). Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019). ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 6 (4), pp.821-821. https://doi.org/10.1002/acn3.780Test.; http://hdl.handle.net/11343/271489Test
-
8دورية أكاديمية
المؤلفون: Piekutowska-Abramczuk, D., Assouline, Z., Mataković, L., Feichtinger, R.G., Konarikova, E., Jurkiewicz, E., Stawiński, P., Gusic, M., Koller, A., Pollak, A., Gasperowicz, P., Trubicka, J., Ciara, E., Iwanicka-Pronicka, K., Rokicki, D., Hanein, S., Wortmann, S.B., Sperl, W., Rötig, A., Prokisch, H., Pronicka, E., Płoski, R., Barcia, G., Mayr, J.A.
المصدر: Am. J. Hum. Genet. 102, 460-467 (2018)
مصطلحات موضوعية: Complex I, Lactic Acidosis, Leigh Syndrome, Mitochondria, Nadh Dehydrogenase, Oxidative Phosphorylation, Respiratory Chain
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29429571; info:eu-repo/semantics/altIdentifier/wos/WOS:000426469600016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52941Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2018.01.008Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52941Test -
9دورية أكاديمية
المؤلفون: Kremer, L.S., Danhauser, K., Herebian, D., Petkovic Ramadža, D., Piekutowska-Abramczuk, D., Seibt, A., Müller-Felber, W., Haack, T.B., Płoski, R., Lohmeier, K., Schneider, D., Klee, D., Rokicki, D., Mayatepek, E., Strom, T.M., Meitinger, T., Klopstock, T., Pronicka, E., Mayr, J.A., Baric, I., Distelmaier, F., Prokisch, H.
المصدر: Am. J. Hum. Genet. 99, 894-902 (2016)
مصطلحات موضوعية: Nad(p)hx, Energy Metabolism, Metabolite Repair, Mitochondrial
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27616477; info:eu-repo/semantics/altIdentifier/wos/WOS:000385333700009; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49468Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2016.07.018Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49468Test -
10دورية أكاديمية
المؤلفون: Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Krajewska-Walasek, M., Książyk, J., Sperl, W., Płoski, R., Pronicka, E.
المساهمون: CMHI, National Science Centre Harmonia 4, EU Structural Funds
المصدر: Molecular Genetics and Metabolism Reports ; volume 7, page 70-76 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2016.03.004Test
https://api.elsevier.com/content/article/PII:S2214426916300167?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426916300167?httpAccept=text/plainTest
النص الكامل