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1دورية أكاديمية
المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Silva, MTG, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Horster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB
المصدر: Annals of neurology. 82(6):1004-1015
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية 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 -
3دورية 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
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4دورية أكاديمية
المؤلفون: Wortmann, SB, van Hasselt, PM, Baric, I, Burlina, A, Darin, N, Horster, F, Coker, M, Ucar, SK, Krumina, Z, Naess, K, Ngu, LH, Pronicka, E, Riordan, G, Santer, R, Wassmer, E, Zschocke, J, Schiff, M, de Meirleir, L, Alowain, MA, Smeitink, JAM, Morava, E, Kozicz, T, Wevers, RA, Wolf, NI, Willemsen, MA
المصدر: Neuropediatrics. 46(2):98-103
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Repp, B.M. (Birgit M.), Mastantuono, E. (Elisa), Alston, C.L. (Charlotte L.), Schiff, M. (Manuel), Haack, T.B. (Tobias B.), Rötig, A. (Agns), Ardissone, A. (Anna), Lombès, A. (Anne), Catarino, C.F.B.S., Diodato, D. (Daria), Schottmann, G. (Gudrun), Poulton, J. (Joanna), Burlina, A.B. (Alberto), Jonckheere, A. (An), Munnich, A. (Arnold), Rolinski, B. (Boris), Ghezzi, D. (Daniele), Rokicki, D. (Dariusz), Wellesley, D. (Diana), Martinelli, D. (Diego), Wenhong, D. (Ding), Lamantea, E. (Eleonora), Østergaard, E. (Elsebet), Pronicka, E. (Ewa), Pierre, G. (Germaine), Smeets, H.J.M. (Hubert), Wittig, I. (Ilka), Scurr, I. (Ingrid), Coo, I.F.M. (René) de, Moroni, I. (Isabella), Smet, J. (Joél), Mayr, J.A. (Johannes A.), Dai, L. (Lifang), Meirleir, L. (Linda) de, Schuelke, M. (Markus), Zeviani, M. (Massimo), Morscher, R.J. (Raphael J.), McFarland, R. (Robert), Seneca, S. (S.), Klopstock, T. (Thomas), Meitinger, T. (Thomas), Wieland, T. (Thomas), Strom, T.M. (Tim), Herberg, U. (Ulrike), Ahting, U. (Uwe), Sperl, W. (Wolfgang), Nassogne, M.C. (M.), Ling, H. (Han), Fang, F. (Fang), Freisinger, P. (Peter), Coster, R.N.A. (R. N A) van, Strecker, V. (Valentina), Taylor, R.W. (Robert William), Häberle, J. (Johannes), Vockley, J. (Jerry), Prokisch, H. (Holger), Wortmann, S.B. (S.)
المصدر: Orphanet journal of rare diseases vol. 13 no. 1
مصطلحات موضوعية: Activities of daily living, Cardiomyopathy, Complex I, Heart transplantation, Lactic acidosis, Mitochondrial disorder, Neonatal, Prognosis, Treatment, Vitamin
وصف الملف: application/pdf
العلاقة: info:eu-repo/grantAgreement/EC/FP7/317433; http://repub.eur.nl/pub/109529Test; urn:hdl:1765/109529
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6دورية 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
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7دورية أكاديمية
المؤلفون: Bruni, F., Meo, I.D., Bellacchio, E., Webb, B.D., McFarland, R., Chrzanowska-Lightowlers, Z.M.A., He, L., Skorupa, E., Moroni, I., Ardissone, A., Walczak, A., Tyynismaa, H., Isohanni, P., Mandel, H., Prokisch, H., Haack, T.B., Bonnen, P.E., Enrico, B., Pronicka, E., Ghezzi, D., Taylor, R.W., Diodato, D.
المصدر: Hum. Mutat. 39, 563-578 (2018)
مصطلحات موضوعية: Cardioencephalomyopathy, Mitochondrial Disorders, Oxphos, Vars2
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29314548; info:eu-repo/semantics/altIdentifier/wos/WOS:000426727800009; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52701Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004
الإتاحة: https://doi.org/10.1002/humu.23398Test
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8دورية أكاديمية
المؤلفون: Iwanicka-Pronicka K., Riley L., Roeben B., Rutsch F., Santer R., Schiff M., Seders M., Sequeira S., Sperl W., Unal O., Maas R.R., Kalkan Ucar S., Alhaddad B., AlSayed M., Al-Owain M.A., Al-Zaidan H.I., Balasubramaniam S., Baric I., Bubshait D.K., Burlina A., Christodoulou J., Chung W.K., Colombo R., Darin N., Freisinger P., Garcia Silva M.T., Grunewald S., Haack T.B., van Hasselt P.M., Hikmat O., Hörster F., Isohanni P., Ramzan K., Kovacs-Nagy R., Krumina Z., Martin-Hernandez E., Mayr J.A., McClean P., De Meirleir L., Naess K., Ngu L.H., Pajdowska M., Rahman S., Riordan G., Staufner C., Synofzik M., Taylor R.W., Trubicka J., Tsiakas K., Wassmer E., Wedatilake Y., Wolff T., Prokisch H., Morava E., Pronicka E., Wevers R.A., de Brouwer A.P., Wortmann S.B.
العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Annals of Neurology; https://hdl.handle.net/11454/25350Test; https://doi.org/10.1002/ana.25110Test; 82; 1004; 1015
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9دورية أكاديمية
المؤلفون: Pronicka, E, Ropacka-Lesiak, M, Trubicka, J, Pajdowska, M, Linke, M, Ostergaard, E, Saunders, C, Horsch, S, van Karnebeek, C, Yaplito-Lee, J, Distelmaier, F, Õunap, K, Rahman, S, Castelle, M, Kelleher, J, Baris, S, Iwanicka-Pronicka, K, Steward, CG, Ciara, E, Wortmann, SB, Additional individual contributors, .
المصدر: Journal of Inherited Metabolic Disease (2017) (In press).
مصطلحات موضوعية: 3-methylglutaconic aciduria, Cataracts, Hyperekplexia, Neutropenia, Prenatal movement disorder, Prenatal seizures
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1563776/1/s10545-017-0057-z.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1563776Test/
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10دورية أكاديمية
المؤلفون: Bayat, A., Valles-Ibanez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., Heron, D., Hildebrand, M.S., Jezela-Stanek, A., Jouk, P.S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J.R., Li, H., Martinez, F., Maxton, C., Mefford, H.C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L.E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E.M.C., Stegmann, A.P.A., Stumpel, C.T.
المصدر: Bayat , A , Valles-Ibanez , G , Pendziwiat , M , Knaus , A , Alt , K , Biamino , E , Bley , A , Calvert , S , Carney , P , Caro-Llopis , A , Ceulemans , B , Cousin , J , Davis , S , Portes , V , Edery , P , England , E , Ferreira , C , Freeman , J , Gener , B , Gorce , M , Heron , D , Hildebrand , M S , Jezela-Stanek , A , Jouk , P S , Keren ....
مصطلحات موضوعية: congenital disorder of glycosylation, developmental and epileptic encephalopathy, epilepsy, GPI-anchoring disorder, intellectual disability, HYPOTONIA-SEIZURES SYNDROME, CONGENITAL-ANOMALIES, PRENATAL-DIAGNOSIS, MUTATION, PHENOTYPE, PROTEINS
العلاقة: https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0Test
الإتاحة: https://doi.org/10.1111/epi.17173Test
https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0Test
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