المؤلفون: Dominik N., Magri S., Curro R., Abati E., Facchini S., Corbetta M., MacPherson H., Di Bella D., Sarto E., Stevanovski I., Chintalaphani S. R., Akcimen F., Manini A., Vegezzi E., Quartesan I., Montgomery K. -A., Pirota V., Crespan E., Perini C., Grupelli G. P., Tomaselli P. J., Marques W., Ambrose J. C., Arumugam P., Baple E. L., Bleda M., Boardman-Pretty F., Boissiere J. M., Boustred C. R., Brittain H., Caulfield M. J., Chan G. C., Craig C. E. H., Daugherty L. C., De Burca A., Devereau A., Elgar G., Foulger R. E., Fowler T., Furio-Tari P., Gustavsson E., Hackett J. M., Halai D., Hamblin A., Henderson S., Holman J. E., Hubbard T. J. P., Ibanez K., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Lahnstein L., Lawson K., Leigh S. E. A., Leong I. U. S., Lopez F. J., Maleady-Crowe F., Mason J., McDonagh E. M., Moutsianas L., Mueller M., Murugaesu N., Need A. C., Odhams C. A., Patch C., Perez-Gil D., Polychronopoulos D., Pullinger J., Rahim T., Rendon A., Riesgo-Ferreiro P., Rogers T., Ryten M., Rugginini B., Savage K., Sawant K., Scott R. H., Siddiq A., Sieghart A., Smedley D., Smith K. R., Sosinsky A., Spooner W., Stevens H. E., Stuckey A., Sultana R., Thomas E. R. A., Thompson S. R., Tregidgo C., Tucci A., Walsh E., Watters S. A., Welland M. J., Williams E., Witkowska K., Wood S. M., Zarowiecki M., Shaw J., Polke J., Salsano E., Fenu S., Pareyson D., Pisciotta C., Tofaris G. K., Nemeth A. H., Ealing J., Radunovic A., Kearney S., Kumar K. R., Vucic S., Kennerson M., Reilly M. M., Houlden H., Deveson I., Taroni F., Cortese A.

المساهمون: Dominik, N, Magri, S, Curro, R, Abati, E, Facchini, S, Corbetta, M, Macpherson, H, Di Bella, D, Sarto, E, Stevanovski, I, Chintalaphani, S, Akcimen, F, Manini, A, Vegezzi, E, Quartesan, I, Montgomery, K, Pirota, V, Crespan, E, Perini, C, Grupelli, G, Tomaselli, P, Marques, W, Ambrose, J, Arumugam, P, Baple, E, Bleda, M, Boardman-Pretty, F, Boissiere, J, Boustred, C, Brittain, H, Caulfield, M, Chan, G, Craig, C, Daugherty, L, De Burca, A, Devereau, A, Elgar, G, Foulger, R, Fowler, T, Furio-Tari, P, Gustavsson, E, Hackett, J, Halai, D, Hamblin, A, Henderson, S, Holman, J, Hubbard, T, Ibanez, K, Jackson, R, Jones, L, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, S, Leong, I, Lopez, F, Maleady-Crowe, F, Mason, J, Mcdonagh, E, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A, Odhams, C, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Rugginini, B, Savage, K, Sawant, K, Scott, R, Siddiq, A, Sieghart, A, Smedley, D, Smith, K, Sosinsky, A, Spooner, W, Stevens, H, Stuckey, A, Sultana, R, Thomas, E, Thompson, S, Tregidgo, C, Tucci, A, Walsh, E, Watters, S, Welland, M, Williams, E, Witkowska, K, Wood, S, Zarowiecki, M, Shaw, J, Polke, J

مصطلحات موضوعية: ataxia, CANVAS, long-read sequencing, neuropathy, repeat expansion, RFC1

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37450567; info:eu-repo/semantics/altIdentifier/wos/WOS:001100798100001; volume:146; issue:12; firstpage:5060; lastpage:5069; numberofpages:10; journal:BRAIN; https://hdl.handle.net/10281/527826

الاتاحة: https://hdl.handle.net/10281/527826
https://doi.org/10.1093/brain/awad240

المؤلفون: Akçimen, F, Martins, S, Liao, C, Bourassa, CV, Catoire, H, Nicholson, GA, Riess, O, Raposo, M, França, MC, Vasconcelos, J, Lima, M, Lopes-Cendes, I, Saraiva-Pereira, ML, Jardim, LB, Sequeiros, J, Dion, PA, Rouleau, GA

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Adult, Age of Onset, Ataxin-3 / genetics, Female, Genome-Wide Association Study, Humans, Machado-Joseph Disease / epidemiology, Machado-Joseph Disease / genetics, Male, Polymorphism, Single Nucleotide, Repressor Proteins / genetics

وصف الملف: application/pdf

Relation: Aging, vol.12(6), p. 4742-4756; https://www.aging-us.com/article/102825/text; https://hdl.handle.net/10216/142510

الاتاحة: https://hdl.handle.net/10216/142510
https://doi.org/10.18632/aging.102825

المؤلفون: Akcimen, F, Vural, A, Durmus, H, Cakar, A, Houlden, H, Parman, YG, Basak, AN

المصدر: Journal of Human Genetics , 64 pp. 1141-1144. (2019)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10087788/3/Houlden%20akcimen_etal-Manuscript_EJHG_May2019.pdf; https://discovery.ucl.ac.uk/id/eprint/10087788/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10087788/3/Houlden%20akcimen_etal-Manuscript_EJHG_May2019.pdf
https://discovery.ucl.ac.uk/id/eprint/10087788/

المؤلفون: Mitropoulos K, MERKOURI PAPADIMA, ELENI, Xiromerisiou G, Balasopoulou A, Charalampidou K, Galani V, Zafeiri KV, Dardiotis E, Ralli S, Deretzi G, John A, Kydonopoulou K, Papadopoulou E, di Pardo A, Akcimen F, Loizedda A, Dobričić V, Novaković I, Kostić VS, Mizzi C, Peters BA, Basak N, Orrù S, Kiskinis E, Cooper DN, Gerou S, Drmanac R, Bartsakoulia M, Tsermpini EE, Hadjigeorgiou GM, Ali BR, Katsila T, Patrinos G.P.

المساهمون: Mitropoulos, K, MERKOURI PAPADIMA, Eleni, Xiromerisiou, G, Balasopoulou, A, Charalampidou, K, Galani, V, Zafeiri, Kv, Dardiotis, E, Ralli, S, Deretzi, G, John, A, Kydonopoulou, K, Papadopoulou, E, di Pardo, A, Akcimen, F, Loizedda, A, Dobričić, V, Novaković, I, Kostić, V, Mizzi, C, Peters, Ba, Basak, N, Orrù, S, Kiskinis, E, Cooper, Dn, Gerou, S, Drmanac, R, Bartsakoulia, M, Tsermpini, Ee, Hadjigeorgiou, Gm, Ali, Br, Katsila, T, Patrinos, G. P.

Relation: info:eu-repo/semantics/altIdentifier/pmid/29216901; info:eu-repo/semantics/altIdentifier/wos/WOS:000417529000001; volume:11; issue:1; numberofpages:10; journal:HUMAN GENOMICS; http://hdl.handle.net/11584/236806; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85045543468

الاتاحة: http://hdl.handle.net/11584/236806
https://doi.org/10.1186/s40246-017-0126-2

المؤلفون: Liao C., Castonguay C. -E., Heilbron K., Vuokila V., Medeiros M., Houle G., Akcimen F., Ross J. P., Catoire H., Diez-Fairen M., Kang J., Mueller S. H., Girard S. L., Hopfner F., Lorenz D., Clark L. N., Soto-Beasley A. I., Klebe S., Hallett M., Wszolek Z. K., Pendziwiat M., Lorenzo-Betancor O., Seppi K., Berg D., Vilarino-Guell C., Postuma R. B., Bernard G., Dupre N., Jankovic J., Testa C. M., Ross O. A., Arzberger T., Chouinard S., Louis E. D., Mandich P., Vitale C., Barone P., Garcia-Martin E., Alonso-Navarro H., Agundez J. A. G., Jimenez-Jimenez F. J., Pastor P., Rajput A., Deuschl G., Kuhlenbaumer G., Meijer I. A., Dion P. A., Rouleau G. A.

المساهمون: Liao, C., Castonguay, C. -E., Heilbron, K., Vuokila, V., Medeiros, M., Houle, G., Akcimen, F., Ross, J. P., Catoire, H., Diez-Fairen, M., Kang, J., Mueller, S. H., Girard, S. L., Hopfner, F., Lorenz, D., Clark, L. N., Soto-Beasley, A. I., Klebe, S., Hallett, M., Wszolek, Z. K., Pendziwiat, M., Lorenzo-Betancor, O., Seppi, K., Berg, D., Vilarino-Guell, C., Postuma, R. B., Bernard, G., Dupre, N., Jankovic, J., Testa, C. M., Ross, O. A., Arzberger, T., Chouinard, S., Louis, E. D., Mandich, P., Vitale, C., Barone, P., Garcia-Martin, E., Alonso-Navarro, H., Agundez, J. A. G., Jimenez-Jimenez, F. J., Pastor, P., Rajput, A., Deuschl, G., Kuhlenbaumer, G., Meijer, I. A., Dion, P. A., Rouleau, G. A.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34982113; info:eu-repo/semantics/altIdentifier/wos/WOS:000739991000003; volume:79; firstpage:185; lastpage:193; numberofpages:9; journal:JAMA NEUROLOGY; https://hdl.handle.net/11567/1142355; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122352691

الاتاحة: https://hdl.handle.net/11567/1142355
https://doi.org/10.1001/jamaneurol.2021.4781

المؤلفون: Liao, C, Sarayloo, F, Rochefort, D, Houle, G, Akçimen, F, He, Q, Laporte, AD, Spiegelman, D, Poewe, W, Berg, D, Müller, S, Hopfner, F, Deuschl, G, Kuhlenbäeumer, G, Rajput, A, Dion, PA, Rouleau, GA

المصدر: Movement Disorders (2020) (In press).

مصطلحات موضوعية: CACNA1A, essential tremor, pheWAS, PRKG1, SHF, transcriptome

Relation: https://discovery.ucl.ac.uk/id/eprint/10096572/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10096572/

المؤلفون: Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, Akgün T, Durmuş H, Şahin E, Çakar A, Başar Gürsoy E, Babacan Yıldız G, İşak B, Uluç K, Hanağası H, Bilgiç B, Turgut N, Aysal F, Ertaş M, Boz C, Kotan D, İdrisoğlu H, Soysal A, Uzun Adatepe N, Akalın MA, Koç F, Tan E, Oflazer P, Deymeer F, Taştan Ö, Çiçek AE, Kavak E, Parman Y, Başak AN.

Relation: Hum Mutat; Makale - Uluslararası Hakemli Dergi; Şeker T, Akçimen F, Coşkun C.Hum Mutat. 2020 Aug;41(8):e7-e45. doi:10.1002/humu.24055. Epub 2020 Jun 24.; http://doi.org/10.1002/humu.24055; https://hdl.handle.net/20.500.12619/71753

الاتاحة: https://hdl.handle.net/20.500.12619/71753
https://doi.org/10.1002/humu.24055

المؤلفون: Kotan D, Özözen Ayas Z, Tunca C, Gungen BD, Akçimen F, Başak AN.

Relation: Acta Neurol Belg; Makale - Uluslararası Hakemli Dergi; Özözen Ayas Z, Tunca C, Gungen BD.Acta Neurol Belg. 2020 Jul 15. doi:10.1007/s13760-020-01441-z. Online ahead of print.; http://doi.org/10.1007/s13760-020-01441-z; https://hdl.handle.net/20.500.12619/71649

الاتاحة: https://hdl.handle.net/20.500.12619/71649
https://doi.org/10.1007/s13760-020-01441-z

المؤلفون: Tunca, C., Seker, T., Akcimen, F., Coskun, C., Bayraktar, E., Palvadeau, R., Zor, S., Kocoglu, C., Kartal, E., Sen, N., Hamzeiy, H., Erimis, A., Norman, U., Karakahya, O., Olgun, G., Akgun, T., Durmus, H., Sahin, E., Cakar, A., Gursoy, E., Yildiz, G., Isak, B., Uluc, K., Hanagasi, H., Bilgic, B., Turgut, N., Aysal, F., Ertas, M., Boz, C., Kotan, D., Idrisoglu, H., Soysal, A., Adatepe, N., Akalin, M., Koc, F., Tan, E., Oflazer, P., Deymeer, F., Tastan, O., Cicek, A., Kavak, E., Parman, Y., Basak, A.

المصدر: Human Mutation

Relation: http://hdl.handle.net/21.11116/0000-0006-BA62-A

الاتاحة: http://hdl.handle.net/21.11116/0000-0006-BA62-A

المؤلفون: Consortium, P.M.A.L.S.S., Veldink, J.H., Shaw, P.J., Tazelaar, G.H.P., van Rheenen, W., Pulit, S.L., van der Spek, R., Dekker, A.M., Moisse, M., McLaughlin, R.L., Sproviero, W., Kenna, K.P., Kooyman, M., van Doormaal, P.T.C., van Eijk, K.E., Middelkoop, B.M., Schellevis , R.D., Brands, W.J., Al-Chalabi , A., Morrison, K.E., Newhouse, S.E., Shaw, C.E., van Es, M.A., Nazli Basak, A., Akçimen, F., Kocoglu, C., Tunca, C., Povedano, M., Mora, J.S., Glass , J.D., van Damme, P., Robberecht , W., Hardiman, O., Landers, J.E., van den Berg, L.H.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/139462/3/CHCHD10_Manuscript_Annals_v10.0.pdf; Consortium, P.M.A.L.S.S., Veldink, J.H., Shaw, P.J. et al. (32 more authors) (2018) CHCHD10 variants in amyotrophic lateral sclerosis: where Is the evidence? Annals of Neurology , 84 (1). pp. 110-116. ISSN 0364-5134

الاتاحة: https://eprints.whiterose.ac.uk/139462/
https://eprints.whiterose.ac.uk/139462/3/CHCHD10_Manuscript_Annals_v10.0.pdf
https://doi.org/10.1002/ana.25273

المؤلفون: Mitropoulos, K. Papadima, E.M. Xiromerisiou, G. Balasopoulou, A. Charalampidou, K. Galani, V. Zafeiri, K.-V. Dardiotis, E. Ralli, S. Deretzi, G. John, A. Kydonopoulou, K. Papadopoulou, E. Di Pardo, A. Akcimen, F. Loizedda, A. Dobriĉić, V. Novaković, I. Kostic, V.S. Mizzi, C. Peters, B.A. Basak, N. Orrù, S. Kiskinis, E. Cooper, D.N. Gerou, S. Drmanac, R. Bartsakoulia, M. Tsermpini, E.-E. Hadjigeorgiou, G.M. Ali, B.R. Katsila, T. Patrinos, G.P.

مصطلحات موضوعية: parasitic diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::c3b4ae78dbd2fd503aea767d176e6b44
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3022112

المؤلفون: Aslihan Ozoguz, Yesim Parman, Ayşe Nazlı Başak, Fulya Akçimen, Ceren Iskender, Ece Kartal, Cemile Kocoglu, Dilcan Kotan, Mefkure Eraksoy

المساهمون: Iskender, C, Kartal, E, Akcimen, F, Kocoglu, C, Ozoguz, A, Kotan, D, Eraksoy, M, Parman, YG, Basak, AN, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, Kotan Dündar, Dilcan

المصدر: Neurology: Genetics

مصطلحات موضوعية: Sanger sequencing, Genetics, Juvenile amyotrophic lateral sclerosis, Disease, Motor neuron, Biology, medicine.disease, Phenotype, Article, symbols.namesake, medicine.anatomical_structure, Atrophy, symbols, medicine, Missense mutation, Neurosciences & Neurology, Neurology (clinical), Differential diagnosis, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30bba1a49107febe13d6577997b1813a
http://europepmc.org/articles/PMC4809458

المؤلفون: Ceren Iskender, Ece Kartal, Fulya Akcimen, Cemile Kocoglu, Aslihan Ozoguz, Kotan Dündar, Dilcan, Mefkure Eraksoy, Yesim G. Parman, Ayse Nazli Basak

المساهمون: Iskender, C, Kartal, E, Akcimen, F, Kocoglu, C, Ozoguz, A, Kotan, D, Eraksoy, M, Parman, YG, Basak, AN, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, Kotan Dündar, Dilcan

مصطلحات موضوعية: Neurosciences & Neurology

Relation: NEUROLOGY-GENETICS; Iskender, C; Kartal, E; Akcimen, F; Kocoglu, C; Ozoguz, A; Kotan, D; Eraksoy, M; Parman, YG; Basak, AN; (2015). Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11. NEUROLOGY-GENETICS, 1, -; https://doi.org/10.1212/NXG.0000000000000025; https://hdl.handle.net/20.500.12619/66920; WOS:000445304600005

الاتاحة: https://hdl.handle.net/20.500.12619/66920
https://doi.org/10.1212/NXG.0000000000000025