Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy

por Nagel-Wolfrum, Kerstin, Fadl, Benjamin R, Becker, Mirjana M, Wunderlich, Kirsten A, Schäfer, Jessica, Sturm, Daniel, Fritze, Jacques, Gür, Burcu, Kaplan, Lew, Andreani, Tommaso, Goldmann, Tobias, Brooks, Matthew, Starostik, Margaret R, Lokhande, Anagha, Apel, Melissa, Fath, Karl R, Stingl, Katarina, Kohl, Susanne, DeAngelis, Margaret M, Schlötzer-Schrehardt, Ursula, Kim, Ivana K, Owen, Leah A, Vetter, Jan M, Pfeiffer, Norbert, Andrade-Navarro, Miguel A, Grosche, Antje, Swaroop, Anand, Wolfrum, Uwe
Publicado 2022

Between life and death: the brain twilight zones

por Charpier, Stéphane
Publicado 2023

Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons

por Green, James A, Yang, Jun, Grati, M’hamed, Kachar, Bechara, Bhat, Manzoor A
Publicado 2013

Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

por Chen, Xue, Sheng, Xunlun, Liu, Xiaoxing, Li, Huiping, Liu, Yani, Rong, Weining, Ha, Shaoping, Liu, Wenzhou, Kang, Xiaoli, Zhao, Kanxing, Zhao, Chen
Publicado 2014

The Contribution of L-Type Ca(v)1.3 Channels to Retinal Light Responses

por Shi, Liheng, Chang, Janet Ya-An, Yu, Fei, Ko, Michael L., Ko, Gladys Y.-P.
Publicado 2017

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report

por Wang, Hairong, Wan, Yang, Yang, Yun, Li, Hao, Mao, Liangwei, Gao, Shuyang, Xu, Jingjing, Wang, Jing
Publicado 2019

Multimodal Human and Environmental Sensing for Longitudinal Behavioral Studies in Naturalistic Settings: Framework for Sensor Selection, Deployment, and Management

por Booth, Brandon M, Mundnich, Karel, Feng, Tiantian, Nadarajan, Amrutha, Falk, Tiago H, Villatte, Jennifer L, Ferrara, Emilio, Narayanan, Shrikanth
Publicado 2019

The search for the Holy Grail: autoantigenic targets in primary sclerosing cholangitis associated with disease phenotype and neoplasia

por Lopens, Steffi, Krawczyk, Marcin, Papp, Maria, Milkiewicz, Piotr, Schierack, Peter, Liu, Yudong, Wunsch, Ewa, Conrad, Karsten, Roggenbuck, Dirk
Publicado 2020

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

por Jiman, Omamah A., Taylor, Rachel L., Lenassi, Eva, Smith, Jill Clayton, Douzgou, Sofia, Ellingford, Jamie M., Barton, Stephanie, Hardcastle, Claire, Fletcher, Tracy, Campbell, Christopher, Ashworth, Jane, Biswas, Susmito, Ramsden, Simon C., Manson, Forbes D., Black, Graeme C.
Publicado 2019

The role of children in transmission of SARS-CoV-2: A rapid review

por Li, Xue, Xu, Wei, Dozier, Marshall, He, Yazhou, Kirolos, Amir, Theodoratou, Evropi
Publicado 2020

Standard echocardiography versus handheld echocardiography for the detection of subclinical rheumatic heart disease: a systematic review and meta-analysis of diagnostic accuracy

por Telford, Lisa Helen, Abdullahi, Leila Hussein, Ochodo, Eleanor Atieno, Zuhlke, Liesl Joanna, Engel, Mark Emmanuel
Publicado 2020

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

por Adeyemo, Adebolajo, Faridi, Rabia, Chattaraj, Parna, Yousaf, Rizwan, Tona, Risa, Okorie, Samuel, Bharadwaj, Thashi, Nouel-Saied, Liz M., Acharya, Anushree, Schrauwen, Isabelle, Morell, Robert J., Leal, Suzanne M., Friedman, Thomas B., Griffith, Andrew J., Roux, Isabelle
Publicado 2021

Pediatric specific challenges of the single institutional review board mandate

por Hu, Andrew, Holl, Jane L., Raval, Mehul V.
Publicado 2022

Convergence of Biofilm Formation and Antibiotic Resistance in Acinetobacter baumannii Infection

por Roy, Subhasree, Chowdhury, Goutam, Mukhopadhyay, Asish K., Dutta, Shanta, Basu, Sulagna
Publicado 2022

Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy

por Su, Bing-Nan, Shen, Ren-Juan, Liu, Zhuo-Lin, Li, Yang, Jin, Zi-Bing
Publicado 2022

Transcriptional comparison of adult human primary Retinal Pigment Epithelium, human pluripotent stem cell-derived Retinal Pigment Epithelium, and ARPE19 cells

por Markert, Elke K., Klein, Holger, Viollet, Coralie, Rust, Werner, Strobel, Benjamin, Kauschke, Stefan G., Makovoz, Bar, Neubauer, Heike, Bakker, Remko A., Blenkinsop, Timothy A.
Publicado 2022

SOX-1 antibodies in a patient with Crohn’s disease: a case report

por Polilli, Ennio, Frattari, Antonella, Esposito, Jessica Elisabetta, Angelini, Gilda, Di Risio, Annalisa, Mazzotta, Elena, Coladonato, Simona, Di Iorio, Giancarlo, Parruti, Giustino, Tocco, Pierluigi
Publicado 2022

The Single-Phase ProtoDUNE Technical Design Report

por Abi, B., Acciarri, R., Acero, M.A., Adamowski, M., Adams, C., Adams, D.L., Adamson, P., Adinolfi, M., Ahmad, Z., Albright, C.H., Alion, T., Anderson, J., Anderson, K., Andreopoulos, C., Andrews, M.P., Andrews, R.A., dos Anjos, J., Ankowski, A., Anthony, J., Antonello, M., Aranda Fernandez, A., Ariga, A., Ariga, T., Arrieta Diaz, E., Asaadi, J., Ascencio, M., Asner, D.M., Athar, M.S., Auger, M., Aurisano, A., Aushev, V., Autiero, D., Azfar, F., Back, J.J., Back, H.O., Backhouse, C., Bai, X., Baird, M., Balantekin, A.B., Balasubramanian, S., Baller, B., Ballett, P., Bambah, B., Band, H., Bansal, M., Bansal, S., Barker, G.J., Barr, G., Barranco Monarca, J., Barros, N., Bashyal, A., Bass, M., Bay, F., Bazo, J.L., Beacom, J.F., Behera, B.R., Bellettini, G., Bellini, V., Beltramello, O., Benekos, N., Benetti, P.A., Bercellie, A., Berman, E., Berns, H., Bernstein, R., Bertolucci, S., Bhatnagar, V., Bhuyan, B., Bian, J., Biery, K., Bishai, M., Bitadze, A., Blackburn, T., Blake, A., Blaszczyk, F.d.M., Blaufuss, E., Blazey, G.C., Blennow, M., Blucher, E., Bocean, V., Boffelli, F., Boissevain, J., Bolognesi, S., Bolton, T., Bonesini, M., Boone, T., Booth, C., Bordoni, S., Bour, P., Bourguille, B., Boyd, S.B., Boyden, D., Brailsford, D., Brandt, A., Bremer, J., Brice, S.J., Bromberg, C., Brooijmans, G., Brown, G., Brunetti, G., Buchanan, N., Budd, H., Calafiura, P., Calatayud, A., Calligarich, E., Calvo, E., Camilleri, L., Campanelli, M., Cantini, C., Carls, B., Cascella, M., Catano-Mur, E., Cavaili-Sforza, M., Cavanna, F., Centro, S., Cervera Villanueva, A., Cervi, T., Chalifour, M., Chappuis, A., Chatterjee, A., Chattopadhyay, S., Chattopadhyay, S., Chaussard, L., Chembra, S., Chen, H., Chen, M., Cherdack, D., Chi, C., Childress, S., Choubey, S., Choudhary, B.C., Christodoulou, G., Christofferson, C., Church, E., Coan, T.E., Cocco, A., Cole, P., Collin, G., Conrad, J.M., Convery, M., Corey, R., Corwin, L., Crespo-Anadón, J.I., Creus Prats, J., Crivelli, P., Cronin-Hennessy, D., Crowley, C., Curioni, A., Cussans, D., da Motta, H., Dale, D., Davenne, T., Davies, G.S., Davies, J., Dawson, J., De, K., De Bonis, I., De Gouvea, A., de Holanda, P.C., De Jong, P., De Lurgio, P., de Vries, J.J., Decowski, M.P., Dedin-Neto, P., Delbart, A., Delepine, D., Delgado, M., Demuth, D., Dennis, S., Densham, C., Dharmapalan, R., Dhingra, N., Diamantopoulou, M., Diaz, J.S., Diaz Bautista, G., Ding, P., Diwan, M., Djurcic, Z., Dolinski, M.J., Drake, G., Duchesneau, D., Dutta, D., Duvernois, M., Duyang, H., Dwyer, D.A., Dye, S., Dyshkant, A.S., Dytman, S., Eads, M., Eberly, B., Edmunds, D., Elliott, S., Ellsworth, W.M., Elnimr, M., Emery, S., Eno, S., Ereditato, A., Escobar, C.O., Escudero Sanchez, L., Evans, J.J., Fahey, K., Falcone, A., Falk, L., Farbin, A., Farnese, C., Farzan, Y., Fasoli, M., Fava, A., Felix, J., Fernandez Menendez, P., Fernandez-Martinez, E., Fields, L., Filthaut, F., Finch, A., Fitton, M., Fleming, B.T., Forest, T., Fowler, J., Fox, W., Freeman, J., Freestone, J., Friant, D., Fried, J., Friedland, A., Fuess, S., Fujikawa, B., Gago, A., Gallagher, H., Galvin, S., Galymov, S., Gamble, T., Gandhi, R., Gao, S., Garcia-Gamez, D., Gardiner, S., Gastler, D., Gendotti, A., Gibin, D., Gil-Botella, I., Gill, R., Giri, A.K., Goeldi, D., Gold, M., Gollapinni, S., Gomes, R.A., Gomez Cadenas, J.J., Goodman, M.C., Gorbunov, D., Goswami, S., Graf, N., Graf, N., Graham, M., Gramelini, E., Gran, R., Grant, C., Grant, N., Greco, V., Greenlee, H., Greenler, L., Groh, M., Grzelak, K., Guardincerri, E., Guarino, V., Guedes, G.P., Guenette, R., Guglielmi, A., Guthikonda, K.K., Guzzo, M.M., Habig, A.T., Hackenburg, A., Hackenburg, R.W., Hadavand, H., Haenni, R., Hahn, A., Haigh, M.D., Haines, T., Hamernik, T., Hamilton, P., Handler, T., Hans, S., Harris, D., Hartnell, J., Hasegawa, T., Hatcher, R., Hatzikoutelis, A., Hays, S., Hazen, E., Headley, M., Heavey, A., Heeger, K.M., Heise, J., Hennessy, K., Henry, S., Hernandez-Garcia, J., Hewes, V., Hewes, J., Higuera, A., Hill, T., Himmel, A., Holin, A., Hoppe, E.W., Horikawa, S., Horton-Smith, G., Hostert, M., Hourlier, A., Howard, B., Howell, J., Hugon, J., Hurh, P., Huston, J., Hylen, J., Insler, J., Introzzi, G., Ioannisian, A., Izmaylov, A., Jaffe, D.E., James, C., James, E., Jang, C.H., Jediny, F., Jen, C., Jhingan, A., Jiménez, S., Johnson, M., Johnson, R., Johnstone, J., Joshi, J., Jostlein, H., Jung, C.K., Junk, T., Kaboth, A., Kadenko, I., Kamyshkov, Y., Karagiorgi, G., Karasavvas, D., Karyotakis, Y., Kaur, P., Kayser, B., Kazaryan, N., Kearns, E., Keener, P.T., Kemp, E., Kendziora, C., Ketchum, W., Kettell, S.H., Khabibullin, M., Khotjantsev, A., Kirby, B., Kirby, M., Klein, J., Ko, Y.J., Kobilarcik, T., Kocaman, B., Koerner, L.W., Kohn, S., Koizumi, G., Kopylov, A., Kordosky, M., Kormos, L., Kose, U., Kostelecký, V.A., Kramer, M., Kreslo, I., Kriesel, K., Kropp, W., Kudenko, Y., Kudryavtsev, V.A., Kulagin, S., Kumar, A., Kumar, J., Kumar, L., Kus, V., Kutter, T., Lande, K., Lane, C., Lang, K., Langford, T., Lanni, F., Laundrie, A., Le, T., Learned, J., Lebrun, P., Lee, D., Lee, W.M., Leigui de Oliveira, M.A., Li, Q.Z., Li, S., Li, S.W., Li, X., Li, Y., Li, Z., Lin, C.S., Lin, S., Linehan, R., Link, J., Liptak, Z., Lissauer, D., Littenberg, L., Littlejohn, B.R., Liu, J., Liu, Q., Liu, T., Lockwitz, S., Lockyer, N., Loew, T., Lokajicek, M., LoMonaco, L., Long, K., Loo, K., Lopez, J.P., Lorca, D., LoSecco, J.M., Louis, W., Luethi, M., Luk, K.B., Lundin, T., Luo, X., Lux, T., Lykken, J., Maalampi, J., Machado, A.A., Macias, C.T., Macier, J.R., MacLellan, R., Magill, S., Mahler, G., Mahn, K., Malek, M., Mammoliti, F., Mandal, S.K., Mandodi, S., Manly, S., Mann, A., Marchionni, A., Marciano, W., Marfatia, D., Mariani, C., Maricic, J., Marino, A.D., Marshak, M., Marshall, C.M., Marshall, J., Marteau, J., Martin-Albo, J., Martinez Caicedo, D.A., Masud, M., Matsuno, S., Matthews, J., Mauger, C., Mavrokoridis, K., Mazza, R., Mazzacane, A., Mazzucato, E., McCauley, N., McCluskey, E., McConkey, N., McDonald, K.T., McFarland, K.S., McGivern, C., McGowan, A.M., McGrew, C., McGuinness, S.R., McKeown, R., McNulty, D., McTaggart, R., Mefodiev, A., Mehta, P., Mei, D., Mena, O., Menary, S., Mendez, D.P., Mendez, H., Menegolli, A., Meng, G., Messier, M., Metcalf, W., Mewes, M., Meyer, H., Miao, T., Milincic, R., Miller, W., Mills, G., Mineev, O., Miranda, O.G., Mishra, C.S., Mishra, S.R., Mitrica, B., Mladenov, D., Mocioiu, I., Moffat, K., Mohanta, R., Mokhov, N., Molina Bueno, L., Montanari, C., Montanari, D., Moon, J., Mooney, M., Moore, C.D., Morgan, B., Morris, C., Morse, W., Mossey, C., Moura, C.A., Mousseau, J., Mualem, L., Muether, M., Mufson, S., Murphy, S., Musser, J., Nakajima, Y., Naples, D., Navarro, J., Navas-Nicolás, D., Nelson, J., Nessi, M., Newbold, D., Newcomer, M., Nguyen, K.T.T., Nichol, R., Nicholls, T.C., Niner, E., Norman, A., Norris, B., Novakova, P., Novella, P., Nowak, E., Nowak, J., Nunes, M.S., O'Keeffe, H., Olivares Del Campo, A., Oliveira, R., Olivier, A., Onishchuk, Y., Ovsjannikova, T., Pakvasa, S., Palamara, O., Paley, J., Palomares, C., Pantic, E., Paolone, V., Papadimitriou, V., Paramesvaran, S., Park, J., Parke, S., Parsa, Z., Pascoli, S., Pasternak, J., Pater, J., Patterson, R.B., Patton, S.J., Patzak, T., Paulos, B., Paulucci, L., Pavlovic, Z., Pawloski, G., Payne, D., Peeters, S.J.M., Pennacchio, E., Perdue, G.N., Peres, O.L.G., Periale, L., Perkin, J.D., Petridis, K., Petti, R., Petukhov, A., Picchi, P., Pietropaolo, F., Plonski, P., Plunkett, R., Poling, R., Popovic, M., Pordes, R., Pordes, S., Potekhin, M., Potenza, R., Potukuchi, B., Poudel, S., Pozimski, J., Prokofiev, O., Pruthi, N., Przewlocki, P., Pumulo, N., Pushka, D., Qian, X., Raaf, J.L., Raboanary, R., Radeka, V., Rademacker, J., Radics, B., Radovic, A., Rakhno, I., Rakotondramanana, H.T., Rakotondravohitra, L., Ramachers, Y.A., Rameika, R., Ramsey, J., Rappoldi, A., Raselli, G., Ratoff, P., Rebel, B., Regenfus, C., Reichenbacher, J., Reitzner, S.D., Remoto, A., Renshaw, A., Rescia, S., Rice, L., Rielage, K., Riesselmann, K., Rivera, D., Robinson, M., Rochester, L., Rodrigues, O.B., Rodrigues, P., Roe, B., Roser, R.M., Ross-Lonergan, M., Rossella, M., Rout, J., Roy, S., Rubbia, A., Rubbia, C., Rucinski, R., Rudolph von Rohr, C., Russell, B., Ruterbories, D., Saakyan, R., Sachdev, K., Sahu, N., Sala, P., Samios, N., Sanchez, F., Sanchez, M.C., Sands, W.R., Santana, S., Santorelli, R., Santos, L.M., Santucci, G., Saoulidou, N., Savage, G., Scaramelli, A., Scarpelli, A., Schaffer, T., Schellman, H., Schlabach, P., Schmitz, D., Schneps, J., Scholberg, K., Schukraft, A., Segreto, E., Sehrawat, S., Sepulveda-Quiroz, J.A., Sergiampietri, F., Sexton, K., Sexton-Kennedy, L., Shaevitz, M.H., Shahi, J., Shahsavarani, S., Shanahan, P., Sharma, R., Sharma, R.K., Shaw, T., Shooltz, D., Shrock, R., Simos, N., Sinclair, J., Sinev, G., Singh, I., Singh, J., Singh, J., Singh, V., Sippach, F.W., Siyeon, K., Smith, A., Smith, P., Smolik, J., Smy, M., Snider, E., Snopok, P., Sobczyk, J., Sobel, H., Soderberg, M., Solomey, N., Sondheim, W., Sorel, M., Sousa, A., Soustruznik, K., Spanu, M., Spitz, J., Spooner, N.J.C., Stancari, M., Stefan, D., Stefanik, A., Steiner, H.M., Stewart, J., Stock, J., Stoica, S., Stone, J., Strait, J., Strait, M., Strauss, T., Striganov, S., Sulej, R., Sullivan, G., Sun, Y., Suter, L., Sutera, C.M., Svoboda, R., Szczerbinska, B., Szelc, A.M., Söldner-Rembold, S., Talaga, R., Tariq, S., Tatar, E., Tayloe, R., Terao, K., Thiesse, M., Thompson, L.F., Thomson, M., Thorn, C., Thorpe, M., Tian, X., Tiedt, D., Timm, S.C., Todd, J., Tonazzo, A., Tope, T., Torres, F.R., Torti, M., Tortola, M., Tortorici, F., Toups, M., Touramanis, C., Trevor, J., Tripathi, M., Tropin, I., Trzaska, W.H., Tsai, Y., Tsang, K.V., Tsaris, A., Tsenov, R., Tufanli, S., Tull, C., Turner, J., Tzanov, M., Tziaferi, E., Uchida, Y., Uma Sankar, S., Urheim, J., Usher, T., Vagins, M.R., Vahle, P., Valdiviesso, G.A., Valerio, L., Vallari, Z., Valle, J., Van Berg, R., Van de Water, R., Varanini, F., Varner, G., Vasseur, G., Vaziri, K., Velev, G., Ventura, S., Verdugo, A., Vermeulen, M.A., Vernon, E., Viant, T., Vieira, T.V., Vignoli, C., Vihonen, S., Vilela, C., Viren, B., Vokac, P., Vrba, T., Wachala, T., Wahl, D., Wallbank, M., Wang, B., Wang, H., Wang, T., Warburton, T.K., Warner, D., Wascko, M., Waters, D., Weber, A., Weber, M., Wei, W., Weinstein, A., Wenman, D., Wetstein, M., White, A., Whitehead, L.H., Whittington, D., Wilking, M.J., Willhite, J., Wilson, P., Wilson, R.J., Wittich, P., Wolcott, J., Wong, H.H., Wongjirad, T., Wood, K., Wood, L.S., Worcester, E., Worcester, M., Wu, S., Xu, W., Yanagisawa, C., Yang, S., Yang, T., Ye, J., Yeh, M., Yershov, N., Yonehara, K., Yu, B., Yu, J., Zalesak, J., Zambelli, L., Zamorano, B., Zang, L., Zani, A., Zaremba, K., Zeller, G.P., Zhang, C., Zhang, C., Zhou, Y., Zimmerman, E.D., Zito, M., Zuklin, J., Zutshi, V., Zwaska, R.
Publicado 2017

Choroidal structure investigated by choroidal vascularity index in patients with inherited retinal diseases

por Bayat, Kia, Hassanpour, Kiana, Sabbaghi, Hamideh, Fekri, Sahba, Daftarian, Narsis, Motevasseli, Tahmineh, Suri, Fatemeh, Kheiri, Bahareh, Yaseri, Mehdi, Ahmadieh, Hamid
Publicado 2023

Matching the pitch perception of the cochlear implanted ear with the contralateral ear in patients with single-sided deafness: a novel approach

por Tóth, Tamás Ferenc, Németh, Adrienne, Bakó, Péter, Révész, Péter, Gerlinger, Imre, Szanyi, István
Publicado 2023