Presynaptic release-regulating alpha2 autoreceptors: Potential molecular target for ellagic acid nutraceutical properties
2021-01-01 Romeo, I.; Vallarino, G.; Turrini, F.; Roggeri, A.; Olivero, G.; Boggia, R.; Alcaro, S.; Costa, G.; Pittaluga, A.
BOPC1 Enantiomers Preparation and HuR Interaction Study. From Molecular Modeling to a Curious DEEP-STD NMR Application
2020-01-01 Volpe, S. D.; Listro, R.; Parafioriti, M.; Di Giacomo, M.; Rossi, D.; Ambrosio, F. A.; Costa, G.; Alcaro, S.; Ortuso, F.; Hirsch, A. K. H.; Vasile, F.; Collina, S.
Identification of Compounds Targeting HuD. Another Brick in the Wall of Neurodegenerative Disease Treatment
2021-01-01 Ambrosio, F. A.; Coricello, A.; Costa, G.; Lupia, A.; Micaelli, M.; Marchesi, N.; Sala, F.; Pascale, A.; Rossi, D.; Vasile, F.; Alcaro, S.; Collina, S.
Colchicine in Managing Skin Conditions: A Systematic Review
2022-01-01 Dastoli, S.; Nistico, S. P.; Morrone, P.; Patruno, C.; Leo, A.; Citraro, R.; Gallelli, L.; Russo, E.; De Sarro, G.; Bennardo, L.
Choroidal vascular changes after encircling scleral buckling for rhegmatogenous retinal detachment
2021-01-01 Bernabei, F; Pellegrini, M; Taroni, L; Roda, M; Toschi, Pg; Schiavi, C; Giannaccare, G; Rothschild, Pr
Crossing the Death Valley of publication process in cornea and ocular surface diseases: from abstracts presented at the Association for Research in Vision and Ophthalmology annual meeting to full-text manuscripts
2021-01-01 Giannaccare, G; Pellegrini, M; Roda, M; Taroni, L; Sebastiani, S; Bernabei, F; Litvin, Afa; Moscardelli, F; Campos, Ec.
Long term results of accelerated 9 mW corneal crosslinking for early progressive keratoconus: the Siena Eye-Cross Study 2
2021-01-01 Mazzotta, C; Raiskup, F; Hafezi, F; Torres-Netto, Ea; Armia Balamoun, A; Giannaccare, G; Bagaglia, Sa
Outcomes of cataract surgery with toric intraocular lens implantation after keratoplasty
2022-01-01 Pellegrini, M; Furiosi, L; Yu, Ac; Giannaccare, G; Scuteri, G; Gardeli, I; Busin, M; Bovone, C; Spena, R.
Sex Hormones Related Ocular Dryness in Breast Cancer WomenSex Hormones Related Ocular Dryness in Breast Cancer Women
2021-01-01 Grasso, A; Di Zazzo, A; Giannaccare, G; Sung, J; Inomata, T; Shih, Kc; Micera, A; Gaudenzi, D; Spelta, S; Romeo, Ma; Orsaria, P; Coassin, M; Altomare, V.
Factors predictive of cystoid macular oedema following endothelial keratoplasty: a single-centre review of 2233 cases
2021-01-01 Myerscough, J; Roberts, Hw; Yu, Ac; Mimouni, M; Furiosi, L; Mandrioli, M; Giannaccare, G; Busin, M
Publication Rate of Abstracts Presented at AAPOS Annual Meetings: From Conference Abstract to Full-Text Article
2021-01-01 Vagge, A; Roda, M; Nucci, P; Siccardi, G; Agrusta, M; Catti, C; Cannavacciuolo, T; Giannaccare, G; Traverso, Ce.
Sutureless Tectonic Mini-Descemet's Stripping Automated Endothelial Keratoplasty ("mini-DSAEK") for the management of corneal perforations
2021-01-01 Roberts, Hw; Gunasekera, Cd; Law, Em; Seifelnasr, M; Giannaccare, G; Busin, M; Myerscough, J.
Efficacy of Preoperative Music Intervention on Pain and Anxiety in Patients Undergoing Cataract Surgery
2021-01-01 Guerrier, G; Bernabei, F; Lehmann, M; Pellegrini, M; Giannaccare, G; Rothschild, Pr.
As the world has become multiethnic, clinical trials should adapt accordingly
2022-01-01 Nasso, G; Santarpino, G
Reflective functioning and Alexithymia as mediators between attachment and psychopathology symptoms: cross-sectional evidence in a community sample
2022-01-01 Barberis, Nadia; Cannavò, Marco; Calaresi, Danilo; Verrastro, Valeria
Selection of antiseizure medications for first add-on use: A consensus paper
2021-01-01 Gambardella, A.; Tinuper, P.; Acone, B.; Bonanni, P.; Coppola, G.; Perucca, E.
Guillain-Barré syndrome following BNT162b2 COVID-19 vaccine
2021-01-01 Trimboli, M.; Zoleo, P.; Arabia, G.; Gambardella, A.
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009))
2021-01-01 Motelow, J. E.; Povysil, G.; Dhindsa, R. S.; Stanley, K. E.; Allen, A. S.; 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.; 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.; Leu, C.; Leech, S. L.; O'Brien, T. J.; Todaro, M.; Stamberger, H.; Andrade, D. M.; Ali, Q. Z.; Sadoway, T. R.; Krestel, H.; Schaller, A.; Papacostas, S. S.; Kousiappa, I.; Tanteles, G. A.; Christou, Y.; 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. M.; Kunz, W. S.; 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, 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.; 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.; 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.; 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.; Berkovic, S. F.; Lerche, H.; Lowenstein, D. H.; Goldstein, D. B.
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects
2020-01-01 Niestroj, L. -M.; Perez-Palma, E.; Howrigan, D. P.; Zhou, Y.; Cheng, F.; Saarentaus, E.; Nurnberg, P.; Stevelink, R.; Daly, M. J.; Palotie, A.; Lal, D.; Feng, Y. -C. A.; Abbott, L. E.; Tashman, K.; Cerrato, F.; Churchhouse, C.; Gupta, N.; Neale, B. M.; Berkovic, S. F.; Lerche, H.; Goldstein, D. B.; 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.; Leu, C.; Bennett, C. A.; Bellows, S. T.; 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.; Martin, K.; 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.; Salpietro, V.; 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.; Tumiene, B.; Mameniskiene, R.; Utkus, A.; Praninskiene, R.; Grikiniene, J.; Samaitiene, R.; 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.; Piras, F.; Gili, T.; Ciullo, V.
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
2021-01-01 Courage, C.; Oliver, K. L.; Park, E. J.; Cameron, J. M.; Grabinska, K. A.; Muona, M.; Canafoglia, L.; Gambardella, A.; Said, E.; Afawi, Z.; Baykan, B.; Brandt, C.; di Bonaventura, C.; Chew, H. B.; Criscuolo, C.; Dibbens, L. M.; Castellotti, B.; Riguzzi, P.; Labate, A.; Filla, A.; Giallonardo, A. T.; Berecki, G.; Jackson, C. B.; Joensuu, T.; Damiano, J. A.; Kivity, S.; Korczyn, A.; Palotie, A.; Striano, P.; Uccellini, D.; Giuliano, L.; Andermann, E.; Scheffer, I. E.; Michelucci, R.; Bahlo, M.; Franceschetti, S.; Sessa, W. C.; Berkovic, S. F.; Lehesjoki, A. -E.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Presynaptic release-regulating alpha2 autoreceptors: Potential molecular target for ellagic acid nutraceutical properties | 1-gen-2021 | Romeo, I.; Vallarino, G.; Turrini, F.; Roggeri, A.; Olivero, G.; Boggia, R.; Alcaro, S.; Costa, G.; Pittaluga, A. | |
| BOPC1 Enantiomers Preparation and HuR Interaction Study. From Molecular Modeling to a Curious DEEP-STD NMR Application | 1-gen-2020 | Volpe, S. D.; Listro, R.; Parafioriti, M.; Di Giacomo, M.; Rossi, D.; Ambrosio, F. A.; Costa, G.; Alcaro, S.; Ortuso, F.; Hirsch, A. K. H.; Vasile, F.; Collina, S. | |
| Identification of Compounds Targeting HuD. Another Brick in the Wall of Neurodegenerative Disease Treatment | 1-gen-2021 | Ambrosio, F. A.; Coricello, A.; Costa, G.; Lupia, A.; Micaelli, M.; Marchesi, N.; Sala, F.; Pascale, A.; Rossi, D.; Vasile, F.; Alcaro, S.; Collina, S. | |
| Colchicine in Managing Skin Conditions: A Systematic Review | 1-gen-2022 | Dastoli, S.; Nistico, S. P.; Morrone, P.; Patruno, C.; Leo, A.; Citraro, R.; Gallelli, L.; Russo, E.; De Sarro, G.; Bennardo, L. | |
| Choroidal vascular changes after encircling scleral buckling for rhegmatogenous retinal detachment | 1-gen-2021 | Bernabei, F; Pellegrini, M; Taroni, L; Roda, M; Toschi, Pg; Schiavi, C; Giannaccare, G; Rothschild, Pr | |
| Crossing the Death Valley of publication process in cornea and ocular surface diseases: from abstracts presented at the Association for Research in Vision and Ophthalmology annual meeting to full-text manuscripts | 1-gen-2021 | Giannaccare, G; Pellegrini, M; Roda, M; Taroni, L; Sebastiani, S; Bernabei, F; Litvin, Afa; Moscardelli, F; Campos, Ec. | |
| Long term results of accelerated 9 mW corneal crosslinking for early progressive keratoconus: the Siena Eye-Cross Study 2 | 1-gen-2021 | Mazzotta, C; Raiskup, F; Hafezi, F; Torres-Netto, Ea; Armia Balamoun, A; Giannaccare, G; Bagaglia, Sa | |
| Outcomes of cataract surgery with toric intraocular lens implantation after keratoplasty | 1-gen-2022 | Pellegrini, M; Furiosi, L; Yu, Ac; Giannaccare, G; Scuteri, G; Gardeli, I; Busin, M; Bovone, C; Spena, R. | |
| Sex Hormones Related Ocular Dryness in Breast Cancer WomenSex Hormones Related Ocular Dryness in Breast Cancer Women | 1-gen-2021 | Grasso, A; Di Zazzo, A; Giannaccare, G; Sung, J; Inomata, T; Shih, Kc; Micera, A; Gaudenzi, D; Spelta, S; Romeo, Ma; Orsaria, P; Coassin, M; Altomare, V. | |
| Factors predictive of cystoid macular oedema following endothelial keratoplasty: a single-centre review of 2233 cases | 1-gen-2021 | Myerscough, J; Roberts, Hw; Yu, Ac; Mimouni, M; Furiosi, L; Mandrioli, M; Giannaccare, G; Busin, M | |
| Publication Rate of Abstracts Presented at AAPOS Annual Meetings: From Conference Abstract to Full-Text Article | 1-gen-2021 | Vagge, A; Roda, M; Nucci, P; Siccardi, G; Agrusta, M; Catti, C; Cannavacciuolo, T; Giannaccare, G; Traverso, Ce. | |
| Sutureless Tectonic Mini-Descemet's Stripping Automated Endothelial Keratoplasty ("mini-DSAEK") for the management of corneal perforations | 1-gen-2021 | Roberts, Hw; Gunasekera, Cd; Law, Em; Seifelnasr, M; Giannaccare, G; Busin, M; Myerscough, J. | |
| Efficacy of Preoperative Music Intervention on Pain and Anxiety in Patients Undergoing Cataract Surgery | 1-gen-2021 | Guerrier, G; Bernabei, F; Lehmann, M; Pellegrini, M; Giannaccare, G; Rothschild, Pr. | |
| As the world has become multiethnic, clinical trials should adapt accordingly | 1-gen-2022 | Nasso, G; Santarpino, G | |
| Reflective functioning and Alexithymia as mediators between attachment and psychopathology symptoms: cross-sectional evidence in a community sample | 1-gen-2022 | Barberis, Nadia; Cannavò, Marco; Calaresi, Danilo; Verrastro, Valeria | |
| Selection of antiseizure medications for first add-on use: A consensus paper | 1-gen-2021 | Gambardella, A.; Tinuper, P.; Acone, B.; Bonanni, P.; Coppola, G.; Perucca, E. | |
| Guillain-Barré syndrome following BNT162b2 COVID-19 vaccine | 1-gen-2021 | Trimboli, M.; Zoleo, P.; Arabia, G.; Gambardella, A. | |
| Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) | 1-gen-2021 | Motelow, J. E.; Povysil, G.; Dhindsa, R. S.; Stanley, K. E.; Allen, A. S.; 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.; 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.; Leu, C.; Leech, S. L.; O'Brien, T. J.; Todaro, M.; Stamberger, H.; Andrade, D. M.; Ali, Q. Z.; Sadoway, T. R.; Krestel, H.; Schaller, A.; Papacostas, S. S.; Kousiappa, I.; Tanteles, G. A.; Christou, Y.; 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. M.; Kunz, W. S.; 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, 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.; 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.; 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.; 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.; Berkovic, S. F.; Lerche, H.; Lowenstein, D. H.; Goldstein, D. B. | |
| Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects | 1-gen-2020 | Niestroj, L. -M.; Perez-Palma, E.; Howrigan, D. P.; Zhou, Y.; Cheng, F.; Saarentaus, E.; Nurnberg, P.; Stevelink, R.; Daly, M. J.; Palotie, A.; Lal, D.; Feng, Y. -C. A.; Abbott, L. E.; Tashman, K.; Cerrato, F.; Churchhouse, C.; Gupta, N.; Neale, B. M.; Berkovic, S. F.; Lerche, H.; Goldstein, D. B.; 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.; Leu, C.; Bennett, C. A.; Bellows, S. T.; 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.; Martin, K.; 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.; Salpietro, V.; 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.; Tumiene, B.; Mameniskiene, R.; Utkus, A.; Praninskiene, R.; Grikiniene, J.; Samaitiene, R.; 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.; Piras, F.; Gili, T.; Ciullo, V. | |
| Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes | 1-gen-2021 | Courage, C.; Oliver, K. L.; Park, E. J.; Cameron, J. M.; Grabinska, K. A.; Muona, M.; Canafoglia, L.; Gambardella, A.; Said, E.; Afawi, Z.; Baykan, B.; Brandt, C.; di Bonaventura, C.; Chew, H. B.; Criscuolo, C.; Dibbens, L. M.; Castellotti, B.; Riguzzi, P.; Labate, A.; Filla, A.; Giallonardo, A. T.; Berecki, G.; Jackson, C. B.; Joensuu, T.; Damiano, J. A.; Kivity, S.; Korczyn, A.; Palotie, A.; Striano, P.; Uccellini, D.; Giuliano, L.; Andermann, E.; Scheffer, I. E.; Michelucci, R.; Bahlo, M.; Franceschetti, S.; Sessa, W. C.; Berkovic, S. F.; Lehesjoki, A. -E. |
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