Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Haridy N. A."'
Publikováno v:
Douleur et Analgésie; Mar2023, Vol. 36 Issue 1, p46-56, 11p
Autor:
Cortese A., Zhu Y., Rebelo A. P., Negri S., Courel S., Abreu L., Bacon C. J., Bai Y., Bis-Brewer D. M., Bugiardini E., Buglo E., Danzi M. C., Feely S. M. E., Athanasiou-Fragkouli A., Haridy N. A., Rodriguez A., Bacha A., Kosikowski A., Wood B., McCray B., Blume B., Siskind C., Sumner C., Calabrese D., Walk D., Vujovic D., Park E., Muntoni F., Donlevy G., Acsadi G., Day J., Burns J., Li J., Krajewski K., Eichinger K., Cornett K., Mullen K., Laura P. Q., Gutmann L., Barrett M., Saporta M., Skorupinska M., Grant N., Bray P., Seyedsadjadi R., Zuccarino R., Finkel R., Lewis R., Yum S., Hilbert S., Thomas S., Behrens-Spraggins S., Jones T., Lloyd T., Grider T., Estilow T., Fridman V., Isasi R., Khan A., Laura M., Magri S., Pipis M., Pisciotta C., Powell E., Rossor A. M., Saveri P., Sowden J. E., Tozza S., Vandrovcova J., Dallman J., Grignani E., Marchioni E., Scherer S. S., Tang B., Lin Z., Al-Ajmi A., Schule R., Synofzik M., Maisonobe T., Stojkovic T., Auer-Grumbach M., Abdelhamed M. A., Hamed S. A., Zhang R., Manganelli F., Santoro L., Taroni F., Pareyson D., Houlden H., Herrmann D. N., Reilly M. M., Shy M. E., Zhai R. G., Zuchner S.
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::fa2f2639bada99e106229ff5b044a7c0
http://hdl.handle.net/11588/808647
http://hdl.handle.net/11588/808647
Akademický článek
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AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders het
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::00ed26f79ff525b3b22543440ed019e6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3025879
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3025879
Autor:
Chelban, V, Wiethoff, S, Fabian-Jessing, B, Haridy, N, Khan, A, Efthymiou, S, Becker, E, O'Connor, E, Hersheson, J, Newland, K, Hojland, A, Gregersen, P, Lindquist, S, Petersen, M, Nielsen, J, Nielsen, M, Wood, N, Giunti, P, Houlden, H
Publikováno v:
Chelban, V, Wiethoff, S, Fabian-Jessing, B K, Haridy, N A, Khan, A, Efthymiou, S, Becker, E B E, O'Connor, E, Hersheson, J, Newland, K, Hojland, A T, Gregersen, P A, Lindquist, S G, Petersen, M B, Nielsen, J E, Nielsen, M, Wood, N W, Giunti, P & Houlden, H 2018, ' Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 ', Movement Disorders, vol. 33, no. 7, pp. 1119-1129 . https://doi.org/10.1002/mds.27334
Movement Disorders
Movement Disorders
BACKGROUND: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia.METHODS: Using next gen
Akademický článek
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Autor:
Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba‐Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D., Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James E. C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J. R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Khorassani, Mohamed El, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda‐Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Rothman, James, Giunti, Paola, Salpietro, Vincenzo, Oconnor, Emer, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Hostettler, Isabel, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen‐Yang, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al‐Khawaja, Issam, Al‐Mutairi, Fuad, Alkuraya, Fowzan S, Sherifa, Hamed, Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Oshinaike, Olajumoke O., Wahab, Kolawole, Bello, Abiodun H., Abubakar, Sanni, Obiabo, Yahaya, Nwazor, Ernest, Ekenze, Oluchi, Williams, Uduak, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Pchelina, Sofya, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Rossi, Salvatore, Silvestri, Gabriella, Bourinaris, Thomas, Xiromerisiou, Georgia, Fidani, Liana, Spanaki, Cleanthe, Tucci, Arianna
Publikováno v:
Annals of Neurology
Annals of Neurology, Wiley, 2019, 86 (2), pp.225-240. ⟨10.1002/ana.25524⟩
Chelban, V, Wilson, M P, Warman Chardon, J, Vandrovcova, J, Zanetti, M N, Zamba-papanicolaou, E, Efthymiou, S, Pope, S, Conte, M R, Abis, G, Liu, Y, Tribollet, E, Haridy, N A, Botía, J A, Ryten, M, Nicolaou, P, Minaidou, A, Christodoulou, K, Kernohan, K D, Eaton, A, Osmond, M, Ito, Y, Bourque, P, Jepson, J E C, Bello, O, Bremner, F, Cordivari, C, Reilly, M M, Foiani, M, Heslegrave, A, Zetterberg, H, Heales, S J R, Wood, N W, Rothman, J E, Boycott, K M, Mills, P B, Clayton, P T & Houlden, H 2019, ' PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation ', Annals of Neurology, vol. 86, no. 2, pp. 225-240 . https://doi.org/10.1002/ana.25524
Annals of Neurology, 86(2), 225-240. WILEY
Annals of Neurology, Wiley, 2019, 86 (2), pp.225-240. ⟨10.1002/ana.25524⟩
Chelban, V, Wilson, M P, Warman Chardon, J, Vandrovcova, J, Zanetti, M N, Zamba-papanicolaou, E, Efthymiou, S, Pope, S, Conte, M R, Abis, G, Liu, Y, Tribollet, E, Haridy, N A, Botía, J A, Ryten, M, Nicolaou, P, Minaidou, A, Christodoulou, K, Kernohan, K D, Eaton, A, Osmond, M, Ito, Y, Bourque, P, Jepson, J E C, Bello, O, Bremner, F, Cordivari, C, Reilly, M M, Foiani, M, Heslegrave, A, Zetterberg, H, Heales, S J R, Wood, N W, Rothman, J E, Boycott, K M, Mills, P B, Clayton, P T & Houlden, H 2019, ' PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation ', Annals of Neurology, vol. 86, no. 2, pp. 225-240 . https://doi.org/10.1002/ana.25524
Annals of Neurology, 86(2), 225-240. WILEY
OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for