المؤلفون: Holmquist, D, Epstein, D, Olsson, M, Wissinger, B, Kohl, S, Hengstler, J, Tear-Fahnehjelm, K

المصدر: Ophthalmic genetics. 42(5):570-576

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:147133858Test

المؤلفون: de Guimaraes, TAC, Georgiou, M, Robson, AG, Fujinami, K, Vincent, A, Nasser, F, Khateb, S, Mahroo, OA, Pontikos, N, Vargas, ME, Thiadens, AAHJ, de Carvalho, ER, Nguyen, XTA, Arno, G, Fujinami-Yokokawa, Y, Liu, X, Tsunoda, K, Hayashi, T, Jimenez-Rolando, B, Martin-Merida, MI, Avila-Fernandez, A, Salas, EC, Garcia-Sandoval, B, Ayuso, C, Sharon, D, Kohl, S, Huckfeldt, RM, Banin, E, Pennesi, ME, Khan, AO, Wissinger, B, Webster, AR, Heon, E, Boon, CJF, Zrenner, E, Michaelides, M

المصدر: de Guimaraes , TAC , Georgiou , M , Robson , AG , Fujinami , K , Vincent , A , Nasser , F , Khateb , S , Mahroo , OA , Pontikos , N , Vargas , ME , Thiadens , AAHJ , de Carvalho , ER , Nguyen , XTA , Arno , G , Fujinami-Yokokawa , Y , Liu , X , Tsunoda , K , Hayashi , T , Jimenez-Rolando , B , Martin-Merida , MI , Avila-Fernandez , A , Salas , EC , Garcia-Sandoval , B , Ayuso , C , Sharon ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/5cb4c761-6612-4857-ae8c-b174287d586dTest

الإتاحة: https://doi.org/10.1136/bjo-2023-323640Test
https://pure.eur.nl/en/publications/5cb4c761-6612-4857-ae8c-b174287d586dTest
https://pure.eur.nl/ws/files/118051987/bjo-2023-323640.full.pdfTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:001091235500001&DestLinkType=FullRecord&DestApp=WOSTest

المؤلفون: Mascio, A. A., Roman, A. J., Cideciyan, A. V., Sheplock, R., Wu, V., Garafalo, A. V., Sumaroka, A., Pirkle, S., Kohl, S., Wissinger, B., Jacobson, S.G., Barbur, J. L.

مصطلحات موضوعية: RE Ophthalmology

وصف الملف: text

العلاقة: https://openaccess.city.ac.uk/id/eprint/29916/1/i2164-2591-12-1-25_1674547467.12385.pdfTest; Mascio, A. A., Roman, A. J., Cideciyan, A. V. , Sheplock, R., Wu, V., Garafalo, A. V., Sumaroka, A., Pirkle, S., Kohl, S., Wissinger, B., Jacobson, S.G. Barbur, J. L. https://openaccess.city.ac.uk/view/creators_id/john=2Ebarbur.htmlTest orcid:0000-0002-2187-5004 orcid:0000-0002-2187-5004 view all authorsEPJS_limit_names_shown_load( 'creators_name_29916_et_al', 'creators_name_29916_rest' ); (2023). Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial. Translational Vision Science Technology, 12(1), article number 25. doi:10.1167/tvst.12.1.25 https://doi.org/10.1167/tvst.12.1.25Test

الإتاحة: https://doi.org/10.1167/tvst.12.1.25Test
https://openaccess.city.ac.uk/id/eprint/29916Test/
https://openaccess.city.ac.uk/id/eprint/29916/1/i2164-2591-12-1-25_1674547467.12385.pdfTest

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

العلاقة: 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.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141102Test/

الإتاحة: 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.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10141102Test/

المؤلفون: Charif, M, Gueguen, N, Ferré, M, Elkarhat, Z, Khiati, S, LeMao, M, Chevrollier, A, Desquiret-Dumas, V, Goudenège, D, Bris, C, Kane, S, Alban, J, Chupin, S, Wetterwald, C, Caporali, L, Tagliavini, F, LaMorgia, C, Carbonelli, M, Jurkute, N, Barakat, A, Gohier, P, Verny, C, Barth, M, Procaccio, V, Bonneau, D, Zanlonghi, X, Meunier, I, Weisschuh, N, Schimpf-Linzenbold, S, Tonagel, F, Kellner, U, Yu-Wai-Man, P, Carelli, V, Wissinger, B, Amati-Bonneau, P, Reynier, P, European ION Group, ., Lenaers, G

المصدر: Brain Communications , 3 (2) , Article fcab063. (2021)

مصطلحات موضوعية: ACO2, Krebs cycle, aconitase 2, mitochondria, optic neuropathy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129233Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10129233Test/

المؤلفون: Nassisi, M, Smirnov, V, Hernandez, CS, Mohand-Saïd, S, Condroyer, C, Antonio, A, Kühlewein, L, Kempf, M, Kohl, S, Wissinger, B, Nasser, F, Ragi, SD, Wang, N-K, Sparrow, JR, Greenstein, V, Michalakis, S, Mahroo, O, Ba-Abbad, R, Michaelides, M, Webster, AR, Esposti, SD, Saffren, B, Capasso, J, Levin, A, Hauswirth, WW, Dhaenens, C-M, Defoort-Dhellemmes, S, Tsang, SH, Zrenner, E, Sahel, J-A, Petersen-Jones, S, Zeitz, C, Audo, I

المصدر: Human Mutation , 42 (6) pp. 641-666. (2021)

مصطلحات موضوعية: CNGB1, cyclic nucleotide-gated channel, genotype-phenotype correlation inherited retinal disease, retinitis pigmentosa, rod-cone dystrophy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10125918/7/Mahroo_CNGB1-related%20rod-cone%20dystrophy-%20a%20mutation%20review%20and%20update_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10125918Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10125918/7/Mahroo_CNGB1-related%20rod-cone%20dystrophy-%20a%20mutation%20review%20and%20update_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10125918Test/

المؤلفون: Georgiou, M, Fujinami, K, Vincent, A, Nasser, F, Khateb, S, Vargas, ME, Thiadens, AAHJ, de Carvalho, ER, Nguyen, X-T-A, De Guimarães, TAC, Robson, AG, Mahroo, OA, Pontikos, N, Arno, G, Fujinami-Yokokawa, Y, Leo, SM, Liu, X, Tsunoda, K, Hayashi, T, Jimenez-Rolando, B, Martin-Merida, MI, Avila-Fernandez, A, Carreño, E, Garcia-Sandoval, B, Carmen, A, Sharon, D, Kohl, S, Huckfeldt, RM, Boon, CJF, Banin, E, Pennesi, ME, Wissinger, B, Webster, AR, Héon, E, Khan, AO, Zrenner, E, Michaelides, M

المصدر: American Journal of Ophthalmology , 230 pp. 1-11. (2021)

مصطلحات موضوعية: CDSRR, Clinical trials, Cone dystrophy with supernormal rod response, Endpoints, FAF, Gene therapy, Genetics, KCNV2, Natural history, OCT, Retinal dystrophy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124716/7/Mahroo_PIIS0002939421001173.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124716Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124716/7/Mahroo_PIIS0002939421001173.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124716Test/

المؤلفون: Kortüm, F., Kieninger, S., Mazzola, P., Kohl, S., Wissinger, B., Prokisch, H., Stingl, K., Weisschuh, N.

المصدر: Int. J. Mol. Sci. 22:850 (2021)

مصطلحات موضوعية: Rpgr, X-linked, In Vitro Splice Assay, Non-canonical Splice Site Variant, Retinitis Pigmentosa

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33467000; info:eu-repo/semantics/altIdentifier/wos/WOS:000611889200001; info:eu-repo/semantics/altIdentifier/isbn/1422-0067; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61085Test; urn:isbn:1422-0067; urn:issn:1422-0067; urn:issn:1661-6596

الإتاحة: https://doi.org/10.3390/ijms22020850Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61085Test

المؤلفون: Nguyen, D, Alavi, MV, Kim, K-Y, Kang, T, Scott, RT, Noh, YH, Lindsey, JD, Wissinger, B, Ellisman, MH, Weinreb, RN, Perkins, GA, Ju, W-K

المصدر: Cell death & disease. 2(12)

مصطلحات موضوعية: Retinal Ganglion Cells, Cell Line, Mitochondria, Animals, Mice, Optic Atrophy, Autosomal Dominant, GTP Phosphohydrolases, Superoxide Dismutase, Glutamic Acid, Receptors, N-Methyl-D-Aspartate, Apoptosis, Up-Regulation, Oxidative Stress, Phosphorylation, Mutation, bcl-X Protein, bcl-Associated Death Protein, bcl-2-Associated X Protein, OPA1 mutation, NMDA receptors, oxidative stress, mitochondrial fragmentation, retinal ganglion cells, glutamate excitotoxicity, Optic Atrophy, Autosomal Dominant, Receptors, N-Methyl-D-Aspartate, Eye Disease and Disorders of Vision, Neurodegenerative, Biotechnology, Neurosciences, Eye, Oncology and Carcinogenesis, Biochemistry and Cell Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2sp212qtTest

المؤلفون: Georgiou, M, Robson, AG, Fujinami, K, Leo, SM, Vincent, A, Nasser, F, Cabral De Guimarães, TA, Khateb, S, Pontikos, N, Fujinami-Yokokawa, Y, Liu, X, Tsunoda, K, Hayashi, T, Vargas, ME, Thiadens, AAHJ, de Carvalho, ER, Nguyen, X-T-A, Arno, G, Mahroo, OA, Martin-Merida, MI, Jimenez-Rolando, B, Gordo, G, Carreño, E, Carmen, A, Sharon, D, Kohl, S, Huckfeldt, RM, Wissinger, B, Boon, CJF, Banin, E, Pennesi, ME, Khan, AO, Webster, AR, Zrenner, E, Héon, E, Michaelides, M

المصدر: American Journal of Ophthalmology (2020) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10117449/1/Georgiou_et_al_KCNV2_AJO_Dec_2020.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10117449Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10117449/1/Georgiou_et_al_KCNV2_AJO_Dec_2020.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10117449Test/