المؤلفون: Armirola-Ricaurte, C, Zonnekein, N, Koutsis, G, Amor-Barris, S, Pelayo-Negro, AL, Atkinson, D, Efthymiou, S, Turchetti, V, Dinopoulos, A, Garcia, A, Karakaya, M, Moris, G, Polat, AI, Yiş, U, Espinos, C, Van de Vondel, L, De Vriendt, E, Karadima, G, Wirth, B, Hanna, M, Houlden, H, Berciano, J, Jordanova, A

المصدر: Genetics in Medicine , 26 (6) , Article 101117. (2024)

مصطلحات موضوعية: Charcot-Marie-Tooth, Mitochondrial disorders, NDUFS6, Peripheral neuropathy, Splicing

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10191565/1/1-s2.0-S1098360024000509-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10191565/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10191565/1/1-s2.0-S1098360024000509-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10191565/

المؤلفون: Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Koken OY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Topf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Cavdarli B, Semerci Gunduz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yis U, Topaloglu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG

المصدر: Brain, 1 December 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/295486; https://eprints.ncl.ac.uk/fulltext.aspx?url=295486/1503C558-EE4D-4661-9A57-6E3B06FCA8A2.pdf&pub_id=295486

الاتاحة: https://eprints.ncl.ac.uk/295486

المؤلفون: Onay, H., Günay, Ç., Bademkiran, F., Hiz, Kurul, S., Yiş, U.

مصطلحات موضوعية: hearing loss, auditory neuropathy, hypotonia, spectrin, SPTBN4

Relation: Neurology Asia; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.54029/2023unk; https://hdl.handle.net/11454/92256; 28; 775; 779

الاتاحة: https://hdl.handle.net/11454/92256
https://doi.org/10.54029/2023unk

المؤلفون: Montanucci L., Lewis-Smith D., Collins R. L., Niestroj L. -M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R. H., Talkowski M., Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Goldstein D. B., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A. E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B. M., Berkovic S. F., Lerche H., Lowenstein D. H., Cavalleri G. L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Sisodiya S. M., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bennett C. A., Leech S. L., Leu C., O'Brien T. J., Todaro M., Stamberger H., Depondti C., Andrade D. M., Ali Q. Z., Sadoway T. R., Krestel H., Schaller A., Papacostas S. S., Kousiappa I., Tanteles G. A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Neubauer B. A., Zimprich F., Feucht M., Reinthaler E., Kunz W. S., Zsurka G., Surges R., Baumgartner T. H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B. J., Schulze-Bonhage A., Borggrafe I., Schankin C. J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A. -E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M. I., Chung S. -K., Pickrell W. O., Powell R. H. W., Baker M. D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Delanty N., Doherty C. P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M. S., Salpietro V., Scala M., Mancardi M. M., Lino N., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry-Zgheib N., Tumiene B., Utkus A., Sadleir L. G., King C., Caglayan S. H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Tsai M. -H., Ho C. -J., Lin C. -H., Lin K. -L., Chou I. -J., Poduri A., Shiedley B. R., Shain C., Noebels J. L., Goldman A., Busch R. M., Jehi L., Najm I. M., Ferguson L., Khoury J., Glauser T. A., Clark P. O., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Greenberg D. A., Ellis C. A., Goldberg E., Helbig K. L., Cosico M., Vaidiswaran P., Fitch E., Newton C. R. J. C., Kariuki S. M., Wagner R. G., Owusu-Agyei S., Cole A. J., McGraw C. M., Siena S. A., Davis L., Hucks D., Faucon A., Wu D., Abou-Khalil B. W., Haas K., Taneja R. S., Epi25 Collaborative

المساهمون: Montanucci L., Lewis-Smith D., Collins R.L., Niestroj L.-M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R.H., Talkowski M., Motelow J.E., Povysil G., Dhindsa R.S., Stanley K.E., Allen A.S., Goldstein D.B., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A.E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B.M., Berkovic S.F., Lerche H., Lowenstein D.H., Cavalleri G.L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Sisodiya S.M., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bennett C.A., Leech S.L., Leu C., O'Brien T.J., Todaro M., Stamberger H., Depondti C., Andrade D.M., Ali Q.Z., Sadoway T.R., Krestel H., Schaller A., Papacostas S.S., Kousiappa I., Tanteles G.A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Neubauer B.A., Zimprich F., Feucht M., Reinthaler E., Kunz W.S., Zsurka G., Surges R., Baumgartner T.H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S.

مصطلحات موضوعية: copy number variant, seizure, genome wide

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37474567; info:eu-repo/semantics/altIdentifier/wos/WOS:001040020600007; volume:14; issue:1; firstpage:1; lastpage:19; numberofpages:19; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11585/957673; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165735871; https://www.nature.com/articles/s41467-023-39539-6

الاتاحة: https://hdl.handle.net/11585/957673
https://doi.org/10.1038/s41467-023-39539-6
https://www.nature.com/articles/s41467-023-39539-6

المؤلفون: Magrinelli, F, Cali, E, Braga, VL, Yis, U, Tomoum, H, Shamseldin, H, Raiman, J, Kernstock, C, Rezende Filho, FM, Povoas Barsottini, OG, Taylor, RW, Ostergaard, E, Tamim, A, Schaeferhoff, K, Ferraz Sallum, JM, Zaki, MS, Kok, F, Bhatia, KP, Wissinger, B, Sergeant, K, Haack, TB, Horvath, R, Hiz, S, Alkuraya, FS, Houlden, H, Pedroso, JL, Maroofian, R

المصدر: Movement Disorders Clinical Practice (2022) (In press).

مصطلحات موضوعية: NDUFA12, dystonia, optic atrophy, Leigh syndrome, phenotypic heterogeneity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdf; https://discovery.ucl.ac.uk/id/eprint/10141102/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdf
https://discovery.ucl.ac.uk/id/eprint/10141102/

المؤلفون: Hiz Kurul, S, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A, Sonmezler, E, Matalonga, L, Yis, U, Schon, K, Paramonov, I, Kalafatcilar, İP, Gao, F, Rieger, A, Arslan, N, Yilmaz, E, Ekinci, B, Edem, PP, Aslan, M, Özgör, B, Lochmüller, A, Nair, A, O'Heir, E, Lovgren, AK, Broad Center for Mendelian Genomics, Maroofian, R, Houlden, H, Polavarapu, K, Roos, A, Müller, JS, Hathazi, D, Chinnery, PF, Laurie, S, Beltran, S, Lochmüller, H, Horvath, R

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/114579/1/awab395.pdf; https://openaccess.sgul.ac.uk/id/eprint/114579/2/awab395_supplementary_data.zip; Hiz Kurul, S; Oktay, Y; Töpf, A; Szabó, NZ; Güngör, S; Yaramis, A; Sonmezler, E; Matalonga, L; Yis, U; Schon, K; et al. Hiz Kurul, S; Oktay, Y; Töpf, A; Szabó, NZ; Güngör, S; Yaramis, A; Sonmezler, E; Matalonga, L; Yis, U; Schon, K; Paramonov, I; Kalafatcilar, İP; Gao, F; Rieger, A; Arslan, N; Yilmaz, E; Ekinci, B; Edem, PP; Aslan, M; Özgör, B; Lochmüller, A; Nair, A; O'Heir, E; Lovgren, AK; Broad Center for Mendelian Genomics; Maroofian, R; Houlden, H; Polavarapu, K; Roos, A; Müller, JS; Hathazi, D; Chinnery, PF; Laurie, S; Beltran, S; Lochmüller, H; Horvath, R (2022) High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain, 145 (4). pp. 1507-1518. ISSN 1460-2156 https://doi.org/10.1093/brain/awab395 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114579/
https://openaccess.sgul.ac.uk/id/eprint/114579/1/awab395.pdf
https://openaccess.sgul.ac.uk/id/eprint/114579/2/awab395_supplementary_data.zip
https://doi.org/10.1093/brain/awab395

المؤلفون: Gungor S, Oktay Y, Hiz S, Aranguren-Ibanez A, Kalafatcilar I, Yaramis A, Karaca E, Yis U, Sonmezler E, Ekinci B, Aslan M, Yilmaz E, Ozgor B, Balaraju S, Szabo N, Laurie S, Beltran S, MacArthur DG, Hathazi D, Topf A, Roos A, Lochmuller H, Vernos I, Horvath R

المصدر: iScience, 22 January 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/272562; https://eprints.ncl.ac.uk/fulltext.aspx?url=272562/7AF766D9-BD74-424B-8E5E-23861F5A355B.pdf&pub_id=272562

الاتاحة: https://eprints.ncl.ac.uk/272562

المؤلفون: Kurul, SH, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A, Sonmezler, E, Matalonga, L, Yis, U, Schon, K, Paramonov, I, Kalafatcilar, İP, Gao, F, Rieger, A, Arslan, N, Yilmaz, E, Ekinci, B, Edem, PP, Aslan, M, Özgör, B, Lochmüller, A, Nair, A, O'Heir, E, Lovgren, AK, Broad Center for Mendelian Genomics, Maroofian, R, Houlden, H, Polavarapu, K, Roos, A, Müller, JS, Hathazi, D, Chinnery, PF, Laurie, S, Beltran, S, Lochmüller, H, Horvath, R

المصدر: Brain , Article wab395. (2021) (In press).

مصطلحات موضوعية: Consanguineous families, neurogenetic disease burden, rate of consanguinity, whole exome sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10139421/1/awab395.pdf; https://discovery.ucl.ac.uk/id/eprint/10139421/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10139421/1/awab395.pdf
https://discovery.ucl.ac.uk/id/eprint/10139421/

المؤلفون: Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, Goldstein, DB

المصدر: American Journal of Human Genetics , 108 (6) pp. 965-982. (2021)

مصطلحات موضوعية: Epilepsy, epileptic encephalopathy, seizures, whole-exome sequencing, focal epilepsy, generalized epilepsy, intolerance, ClinVar, Epi25, Louvain

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdf; https://discovery.ucl.ac.uk/id/eprint/10131811/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdf
https://discovery.ucl.ac.uk/id/eprint/10131811/

المؤلفون: Keller, N, Paketci, C, Altmueller, J, Fuhrmann, N, Wunderlich, G, Schrank, B, Unver, O, Yilmaz, S, Boostani, R, Karimiani, EG, Motameny, S, Thiele, H, Nürnberg, P, Maroofian, R, Yis, U, Wirth, B, Karakaya, M

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/113088/1/humu.24181.pdf; Keller, N; Paketci, C; Altmueller, J; Fuhrmann, N; Wunderlich, G; Schrank, B; Unver, O; Yilmaz, S; Boostani, R; Karimiani, EG; et al. Keller, N; Paketci, C; Altmueller, J; Fuhrmann, N; Wunderlich, G; Schrank, B; Unver, O; Yilmaz, S; Boostani, R; Karimiani, EG; Motameny, S; Thiele, H; Nürnberg, P; Maroofian, R; Yis, U; Wirth, B; Karakaya, M (2021) Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum Mutat, 42 (4). pp. 460-472. ISSN 1098-1004 https://doi.org/10.1002/humu.24181 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113088/
https://openaccess.sgul.ac.uk/id/eprint/113088/1/humu.24181.pdf

المؤلفون: Keller, N., Paketci, C., Altmueller, J., Fuhrmann, N., Wunderlich, G., Schrank, B., Unver, O., Yilmaz, S., Boostani, R., Karimiani, E.G., Motameny, S., Thiele, H., Nürnberg, P., Maroofian, R., Yis, U., Wirth, Br., Karakaya, M.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; other

Relation: http://edoc.mdc-berlin.de/20516/1/20516oa.pdf; http://edoc.mdc-berlin.de/20516/2/20516suppl.docx; Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Keller, N. and Paketci, C. and Altmueller, J. and Fuhrmann, N. and Wunderlich, G. and Schrank, B. and Unver, O. and Yilmaz, S. and Boostani, R. and Karimiani, E.G. and Motameny, S. and Thiele, H. and Nürnberg, P. and Maroofian, R. and Yis, U. and Wirth, Br. and Karakaya, M. Human Mutation 42 (4): 460-472. April 2021

الاتاحة: http://edoc.mdc-berlin.de/20516/
https://edoc.mdc-berlin.de/20516/
http://edoc.mdc-berlin.de/20516/1/20516oa.pdf
http://edoc.mdc-berlin.de/20516/2/20516suppl.docx
https://doi.org/10.1002/humu.24181

المؤلفون: Daimagüler, H.S., Akpulat, U., Özdemir, Ö., Yis, U., Güngör, S., Talim, B., Diniz, G., Baydan, F., Thiele, H., Altmüller, J., Nürnberg, P., Cirak, S.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; application/msword

Relation: http://edoc.mdc-berlin.de/20499/1/20499oa.pdf; http://edoc.mdc-berlin.de/20499/7/20499suppl.doc; Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Daimagüler, H.S. and Akpulat, U. and Özdemir, Ö. and Yis, U. and Güngör, S. and Talim, B. and Diniz, G. and Baydan, F. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Cirak, S. American Journal of Medical Genetics A 185 (6): 1678-1690. 14 May 2021

الاتاحة: http://edoc.mdc-berlin.de/20499/
https://edoc.mdc-berlin.de/20499/
http://edoc.mdc-berlin.de/20499/1/20499oa.pdf
http://edoc.mdc-berlin.de/20499/7/20499suppl.doc
https://doi.org/10.1002/ajmg.a.62148

المؤلفون: Yis, U., Komurcu, M., Akinci, G., Ozyilmaz, B., Parlar, O., Unalp, A., Polat, I., Baydan, F., Karaoglu, P., Gazeteci, P., Dundar, N. Olgac, Ardicli, D., Koken, O. Yayici, Aksoy, Abdurrahman, Topaloglu, H., Cavusoglu, D.

Relation: 4922fa45-ff12-47c4-b027-7d21e100e2cd; https://avesis.deu.edu.tr/publication/details/4922fa45-ff12-47c4-b027-7d21e100e2cd/oai

الاتاحة: https://doi.org/10.1016/j.nmd.2023.07.478
https://avesis.deu.edu.tr/publication/details/4922fa45-ff12-47c4-b027-7d21e100e2cd/oai

المؤلفون: Oktay Y, Gungor S, Zeltner L, Wiethoff S, Schols L, Sonmezler E, Yilmaz E, Munro B, Bender B, Kernstock C, Kaemereit S, Liepelt I, Topf A, Yis U, Laurie S, Yaramis A, Zuchner S, Hiz S, Lochmuller H, Schule R, Horvath R

المصدر: Journal of Neuromuscular Diseases, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/276094; https://eprints.ncl.ac.uk/fulltext.aspx?url=276094/4F790CD1-4B51-45BA-BF3E-30BFDB25840D.pdf&pub_id=276094

الاتاحة: https://eprints.ncl.ac.uk/276094

المؤلفون: Yaramis A, Lochmuller H, Topf A, Sonmezler E, Yilmaz E, Hiz S, Yis U, Gungor S, Polat AI, Edem P, Beltran S, Laurie S, Horvath R, Oktay Y

المصدر: Neurology: Genetics, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/265659; https://eprints.ncl.ac.uk/fulltext.aspx?url=265659/C4B648CC-06F0-4857-BDCC-F72AFFA7C377.pdf&pub_id=265659

الاتاحة: https://eprints.ncl.ac.uk/265659

المؤلفون: Paketci, C., Edem, P., Hiz, S., Sonmezler, E., Soydemir, D., Uzan, G. Sarikaya, Oktay, Y., O'Heir, E., Beltran, S., Laurie, S., Topf, A., Lochmuller, H., Horvath, R., Yis, U.

المصدر: BRAIN & DEVELOPMENT 42(7) 539-545

Relation: https://aperta.ulakbim.gov.tr/record/5909; oai:zenodo.org:5909

الاتاحة: https://aperta.ulakbim.gov.tr/record/5909

المؤلفون: Oktay, Y., Gungor, S., Hiz, S., Yaramis, A., Aranguren-Ibanez, A., Yis, U., Sonmezler, E., Yilmaz, E., Ekinci, B., Aslan, M., Balaraju, S., Szabo, N., Laurie, S., Beltran, S., Hathazi, D., MacArthur, D., Roos, A., Lochmuller, H., Vernos, I., Horvath, R.

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS 28(SUPPL 1) 460-461

Relation: https://aperta.ulakbim.gov.tr/record/4383; oai:zenodo.org:4383

الاتاحة: https://aperta.ulakbim.gov.tr/record/4383

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: Topf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Gungor S, Lochmuller H, Hiz S, Horvath R

المصدر: European Journal of Human Genetics, 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/261317; https://eprints.ncl.ac.uk/fulltext.aspx?url=261317/A4BB9BF0-3CC8-4E37-B699-DEEE78328381.pdf&pub_id=261317

الاتاحة: https://eprints.ncl.ac.uk/261317

المؤلفون: Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S. M., Cavalleri G. L., Koeleman B. P. C., Lerche H., Jehi L., Davis L. K., Najm I. M., Palotie A., Daly M. J., Busch R. M., Lal D., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B. M., Berkovic S. F., Goldstein D. B., Lowenstein D. H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bellows S. T., Bennett C. A., Johns E. M. C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Sadoway T. R., Mo K., Krestel H., Gallati S., Papacostas S. S., Kousiappa I., Tanteles G. A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Kunz W. S., Zsurka G., Elger C. E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A. F., Steinhoff B. J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C. J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A. -E., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Barisic N., Delanty N., Doherty C. P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M. S., Mancardi M. M., Vincenzo Salpietro, Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L. G., King C., Mountier E., Caglayan S. H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B. R., Shain C., Poduri A., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Khankhanian P., Helbig K. L., Ellis C. A., Spalletta G., Piras F., Gili T., Ciullo V.

المساهمون: Leu, C., Stevelink, R., Smith, A. W., Goleva, S. B., Kanai, M., Ferguson, L., Campbell, C., Kamatani, Y., Okada, Y., Sisodiya, S. M., Cavalleri, G. L., Koeleman, B. P. C., Lerche, H., Jehi, L., Davis, L. K., Najm, I. M., Palotie, A., Daly, M. J., Busch, R. M., Lal, D., Feng, Y. -C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Churchhouse, C., Gupta, N., Neale, B. M., Berkovic, S. F., Goldstein, D. B., Lowenstein, D. H., Cossette, P., Cotsapas, C., De Jonghe, P., Dixon-Salazar, T., Guerrini, R., Hakonarson, H., Heinzen, E. L., Helbig, I., Kwan, P., Marson, A. G., Petrovski, S., Kamalakaran, S., Stewart, R., Weckhuysen, S., Depondt, C., Dlugos, D. J., Scheffer, I. E., Striano, P., Freyer, C., Krause, R., May, P., Mckenna, K., Regan, B. M., Bellows, S. T., Bennett, C. A., Johns, E. M. C., Macdonald, A., Shilling, H., Burgess, R., Weckhuysen, D., Bahlo, M., O'Brien, T. J., Todaro, M., Stamberger, H., Andrade, D. M., Sadoway, T. R., Mo, K., Krestel, H., Gallati, S., Papacostas, S. S., Kousiappa, I., Tanteles, G. A., Sterbova, K., Vlckova, M., Sedlackova, L., Lassuthova, P., Klein, K. M., Rosenow, F., Reif, P. S., Knake, S., Kunz, W. S., Zsurka, G., Elger, C. E., Bauer, J., Rademacher, M., Pendziwiat, M., Muhle, H., Rademacher, A., Van Baalen, A., Von Spiczak, S., Stephani, U., Afawi, Z., Korczyn, A. D., Kanaan, M., Canavati, C., Kurlemann, G., Muller-Schluter, K., Kluger, G., Hausler, M.

مصطلحات موضوعية: Common variant risk, Epilepsy, Genetic generalized epilepsy, Genetic, Cohort Studie, Cost of Illne, Databases, Factual, Epilepsies, Partial, Generalized, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Human, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31608925; info:eu-repo/semantics/altIdentifier/wos/WOS:000504323200026; volume:142; firstpage:3473; lastpage:3481; numberofpages:9; journal:BRAIN; http://hdl.handle.net/11567/1028583; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074309721

الاتاحة: http://hdl.handle.net/11567/1028583
https://doi.org/10.1093/brain/awz292