1987 …2020

Research activity per year

If you made any changes in Pure these will be visible here soon.

Search results

  • 2020

    A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

    COVID Human Genetic Effort, Jun 11 2020, In: Cell. 181, 6, p. 1194-1199 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Autoantibodies against type I IFNs in patients with life-threatening COVID-19: Science

    Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., Manry, J., Shaw, E., Haljasmägi, L., Peterson, P., Lorenzo, L., Bizien, L., Assant, S., Dobbs, K., de Jesus, A. A., Belot, A. & 680 others, Kallaste, A., Catherinot, E., Tandjaoui-Lambiotte, Y., Le Pen, J., Kerner, G., Bigio, B., Seeleuthner, Y., Yang, R., Bolze, A., Spaan, A. N., Delmonte, O. M., Abers, M. S., Aiuti, A., Casari, G., Lampasona, V., Piemonti, L., Ciceri, F., Bilguvar, K., Lifton, R. P., Vasse, M., Smadja, D. M., Migaud, M., Hadjadj, J., Terrier, B., Duffy, D., Quintana-Murci, L., van de Beek, D., Roussel, L., Vinh, D. C., Tangye, S., Haerynck, F., Dalmau, D., Martinez-Picado, J., Brodin, P., Nussenzweig, M. C., Boisson-Dupuis, S., Rodríguez-Gallego, C., Vogt, G., Mogensen, T. H., Oler, A. J., Gu, J., Burbelo, P. D., Cohen, J. I., Biondi, A., Bettini, L. R., DÁngio, M., Bonfanti, P., Rossignol, P., Mayaux, J., Rieux-Laucat, F., Husebye, E. S., Fusco, F., Ursini, M. V., Imberti, L., Sottini, A., Paghera, S., Quiros-Roldan, E., Rossi, C., Castagnoli, R., Montagna, D., Licari, A., Marseglia, G. L., Duval, X., Ghosn, J., Tsang, J. S., Goldbach-Mansky, R., Kisand, K., Lionakis, M. S., Puel, A., Zhang, S-Y., Holland, S. M., Gorochov, G., Jouanguy, E., Rice, C. M., Cobat, A., Notarangelo, L. D., Abel, L., Su, H. C., Casanova, J-L., Arias, A. A., Boisson, B., Boucherit, S., Bustamante, J., Chbihi, M., Chen, J., Chrabieh, M., Kochetkov, T., Le Voyer, T., Liu, D., Nemirovskaya, Y., Ogishi, M., Papandrea, D., Patissier, C., Rapaport, F., Roynard, M., Vladikine, N., Woollett, M., Zhang, P., Kashyap, A., Ding, L., Bosticardo, M., Wang, Q., Ochoa, S., Liu, H., Chauvin, S. D., Stack, M., Koroleva, G., Bansal, N., Dalgard, C. L., Snow, A., Abad, J., Aguilera-Albesa, S., Akcan, O. M., Darazam, I. A., Aldave, J. C., Ramos, M. A., Nadji, S. A., Alkan, G., Allardet-Servent, J., Allende, L. M., Alsina, L., Alyanakian, M-A., Amador-Borrero, B., Amoura, Z., Antolí, A., Arslan, S., Assant, S., Auguet, T., Azot, A., Bajolle, F., Baldolli, A., Ballester, M., Feldman, H. B., Barrou, B., Beurton, A., Bilbao, A., Blanchard-Rohner, G., Blanco, I., Blandinières, A., Blazquez-Gamero, D., Bloomfield, M., Bolivar-Prados, M., Borie, R., Bousfiha, A. A., Bouvattier, C., Boyarchuk, O., Bueno, M. R. P., Agra, J. J. C., Calimli, S., Capra, R., Carrabba, M., Casasnovas, C., Caseris, M., Castelle, M., Castelli, F., de Vera, M. C., Castro, M. V., Chalumeau, M., Charbit, B., Cheng, M. P., Clavé, P., Clotet, B., Codina, A., Colkesen, F., Colobran, R., Comarmond, C., Corsico, A. G., Darley, D. R., Dauby, N., Dauger, S., de Pontual, L., Dehban, A., Delplancq, G., Demoule, A., Di Sabatino, A., Diehl, J-L., Dobbelaere, S., Durand, S., Eldars, W., Elgamal, M., Elnagdy, M. H., Emiroglu, M., Erdeniz, E. H., Aytekin, S. E., Euvrard, R., Evcen, R., Fabio, G., Faivre, L., Falck, A., Fartoukh, M., Faure, M., Arquero, M. F., Flores, C., Francois, B., Fumadó, V., Solis, B. G., Gaussem, P., Gil-Herrera, J., Gilardin, L., Alarcon, M. G., Girona-Alarcón, M., Goffard, J-C., Gok, F., González-Montelongo, R., Guerder, A., Gul, Y., Guner, S. N., Gut, M., Halwani, R., Hammarström, L., Hatipoglu, N., Hernandez-Brito, E., Holanda-Peña, M. S., Horcajada, J. P., Hraiech, S., Humbert, L., Iglesias, A. D., Íñigo-Campos, A., Jamme, M., Arranz, M. J., Jordan, I., Kanat, F., Kapakli, H., Kara, I., Karbuz, A., Yasar, K. K., Keles, S., Demirkol, Y. K., Klocperk, A., Król, Z. J., Kuentz, P., Kwan, Y. W. M., Lagier, J-C., Lau, Y-L., Le Bourgeois, F., Leo, Y-S., Lopez, R. L., Leung, D., Levin, M., Levy, M., Lévy, R., Li, Z., Linglart, A., Lorenzo-Salazar, J. M., Louapre, C., Lubetzki, C., Luyt, C-E., Lye, D. C., Mansouri, D., Marjani, M., Pereira, J. M., Martin, A., Pueyo, D. M., Marzana, I., Mathian, A., Matos, L. R. B., Matthews, G. V., Mège, J-L., Melki, I., Meritet, J-F., Metin, O., Meyts, I., Mezidi, M., Migeotte, I., Millereux, M., Mirault, T., Mircher, C., Mirsaeidi, M., Melián, A. M., Martinez, A. M., Morange, P., Mordacq, C., Morelle, G., Mouly, S., Muñoz-Barrera, A., Nafati, C., Neves, J. F., Ng, L. F. P., Medina, Y. N., Cuadros, E. N., Gonzalo Ocejo-Vinyals, J., Orbak, Z., Oualha, M., Özçelik, T., Hammarström, Q. P., Parizot, C., Pascreau, T., Paz-Artal, E., de Diego, R. P., Philippe, A., Philippota, Q., Planas-Serra, L., Ploin, D., Poissy, J., Poncelet, G., Pouletty, M., Quentric, P., Raoult, D., Rebillat, A-S., Reisli, I., Ricart, P., Richard, J-C., Rivet, N., Rivière, J. G., Blanch, G. R., Rodrigo, C., Rodriguez-Gallego, C., Rodríguez-Palmero, A., Romero, C. S., Rothenbuhler, A., Rozenberg, F., del Prado, M. Y. R., Riera, J. S., Sanchez, O., Sánchez-Ramón, S., Schluter, A., Schmidt, M., Schweitzer, C. E., Scolari, F., Sediva, A., Seijo, L. M., Sene, D., Senoglu, S., Seppänen, M. R. J., Ilovich, A. S., Shahrooei, M., Smadja, D., Sobh, A., Moreno, X. S., Solé-Violán, J., Soler, C., Soler-Palacín, P., Stepanovskiy, Y., Stoclin, A., Taccone, F., Tandjaoui-Lambiottea, Y., Taupin, J-L., Tavernier, S. J., Thumerelle, C., Tomasoni, G., Toubiana, J., Alvarez, J. T., Trouillet-Assanta, S., Troya, J., Tucci, A., Uzunhan, Y., Vabres, P., Valencia-Ramos, J., van Den Rym, A. M., Vandernoot, I., Vatansev, H., Vélez-Santamaria, V., Viel, S., Vilain, C., Vilaire, M. E., Vincent, A., Voiriot, G., Vuotto, F., Yosunkaya, A., Young, B. E., Yucel, F., Zannad, F., Zatz, M., Belota, A., Foti, G., Bellani, G., Citerio, G., Contro, E., Pesci, A., Valsecchi, M. G., Cazzaniga, M., Bole-Feysot, C., Lyonnet, S., Masson, C., Nitschke, P., Pouliet, A., Schmitt, Y., Tores, F., Zarhrate, M., Abela, L., Andrejak, C., Angoulvant, F., Bachelet, D., Basmaci, R., Behillil, S., Beluze, M., Benkerrou, D., Bhavsar, K., Bompart, F., Bouadma, L., Bouscambert, M., Caralp, M., Cervantes-Gonzalez, M., Chair, A., Coelho, A., Couffignal, C., Couffin-Cadiergues, S., D'ortenzio, E., da Silveira, C., Debray, M-P., Deplanque, D., Descamps, D., Desvallées, M., Diallo, A., Diouf, A., Dorival, C., Dubos, F., Eloy, P., Enouf, V. V. E., Esperou, H., Esposito-Farese, M., Etienne, M., Ettalhaoui, N., Gault, N., Gaymard, A., Gigante, T., Gorenne, I., Guedj, J., Hoctin, A., Hoffmann, I., Jaafoura, S., Kafif, O., Kaguelidou, F., Kali, S., Khalil, A., Khan, C., Laouénan, C., Laribi, S., Le, M., Le Hingrat, Q., Le Mestre, S., Le Nagard, H., Lescure, F-X., Lévy, Y., Levy-Marchal, C., Lina, B., Lingas, G., Lucet, J-C., Malvy, D., Mambert, M., Mentré, F., Mercier, N., Meziane, A., Mouquet, H., Mullaert, J., Neant, N., Noret, M., Pages, J., Papadopoulos, A., Paul, C., Peiffer-Smadja, N., Petrov-Sanchez, V., Peytavin, G., Picone, O., Puéchal, O., Rosa-Calatrava, M., Rossignol, B., Roy, C., Schneider, M., Semaille, C., Mohammed, N. S., Tagherset, L., Tardivon, C., Tellier, M-C., Téoulé, F., Terrier, O., Timsit, J-F., Treoux, T., Tual, C., Tubiana, S., van der Werf, S., Vanel, N., Veislinger, A., Visseaux, B., Wiedemann, A., Yazdanpanah, Y., Abelc, L., Alcover, A., Aschard, H., Astrom, K., Bousso, P., Bruhns, P., Cumano, A., Demangel, C., Deriano, L., Santo, J. D., Dromer, F., Eberl, G., Enninga, J., Fellay, J., Gomperts-Boneca, I., Hasan, M., Hercberg, S., Lantz, O., Patin, E., Pellegrini, S., Pol, S., Rausell, A., Rogge, L., Sakuntabhai, A., Schwartz, O., Schwikowski, B., Shorte, S., Tangy, F., Toubert, A., Touvier, M., Ungeheuer, M-N., Albert, M. L., Alavoine, L., Amat, K. K. A., Bielicki, J., Bruijning, P., Burdet, C., Caumes, E., Charpentier, C., Coignard, B., Costa, Y., Damond, F., Dechanet, A., Delmas, C., Ecobichon, J-L., Enouf, V., Espérou, H., Frezouls, W., Houhou, N., Ilic-Habensus, E., Kikoine, J., Lebeaux, D., Leclercq, A., Lehacaut, J., Letrou, S., Lucet, J-C., Manchon, P., Mandic, M., Meghadecha, M., Motiejunaite, J., Nouroudine, M., Piquard, V., Postolache, A., Quintin, C., Rexach, J., Roufai, L., Terzian, Z., Thy, M., Vignali, V., van Agtmael, M., Algera, A. G., van Baarle, F., Bax, D., Beudel, M., Bogaard, H. J., Bomers, M., Bos, L., Botta, M., de Brabander, J., Bree, G., Brouwer, M. C., de Bruin, S., Bugiani, M., Bulle, E., Chouchane, O., Cloherty, A., Elbers, P., Fleuren, L., Geerlings, S., Geerts, B., Geijtenbeek, T., Girbes, A., Goorhuis, B., Grobusch, M. P., Hafkamp, F., Hagens, L., Hamann, J., Harris, V., Hemke, R., Hermans, S. M., Heunks, L., Hollmann, M. W., Horn, J., Hovius, J. W., de Jong, M. D., Koning, R., van Mourik, N., Nellen, J., Paulus, F., Peters, E., van der Poll, T., Preckel, B., Prins, J. M., Raasveld, J., Reijnders, T., Schinkel, M., Schultz, M. J., Schuurman, A., Sigaloff, K., Smit, M., Stijnis, C. S., Stilma, W., Teunissen, C., Thoral, P., Tsonas, A., van der Valk, M., Veelo, D., Vlaar, A. P. J., de Vries, H., van Vugt, M., Joost Wiersinga, W., Wouters, D., Zwinderman, A. H., Abelb, L., Muhsen, S. A., Al-Mulla, F., Anderson, M. S., Bogunovic, D., Bondarenko, A., Bryceson, Y., Bustamante, C. D., Butte, M., Chakravorty, S., Christodoulou, J., Cirulli, E., Condino-Neto, A., Cooper, M. A., DeRisi, J. L., Desai, M., Drolet, B. A., Espinosa, S., Franco, J. L., Gregersen, P. K., Hagin, D., Heath, J., Henrickson, S. E., Hsieh, E., Imai, K., Itan, Y., Karamitros, T., Kisanda, K., Ku, C-L., Ling, Y., Lucas, C. L., Maniatis, T., Marodi, L., Milner, J. D., Mironska, K., Morio, T., Notarangeloa, L. D., Novelli, G., Novelli, A., O'Farrelly, C., Okada, S., Ozcelik, T., Planas, A. M., Prando, C., Pujol, A., Renia, L., Renieri, A., Sancho-Shimizu, V., Sankaran, V., Barrett, K. S., Snow, A., Tangye, S., Turvey, S., Uddin, F., Uddin, M. J., Vazquez, S. E., von Bernuth, H., Washington, N., Zawadzki, P., Sua, H. C., Casanovaa, J-L., Lab, HGID., Group, NIAID-USUHS. I. R. T. COVID., Clinicians, COVID., Clinicians, COVID-STORM., Group, I. COVID., Group, F. COVID. C. S., Consortium, M. I., Cohort, C-C., Biobank, A. UMC. C. & Effort, COVID. H. G., 2020, In: Sci.. 370, 6515

    Research output: Contribution to journalArticlepeer-review

  • Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group, French COVID Cohort Study Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank & COVID Human Genetic Effort, Oct 23 2020, In: Science (New York, N.Y.). 370, 6515

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Bicuspid aortic valve in children: importance of aortic shape, role of follow up and risk of aortic dilatation

    SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY, Jul 1 2020, In: Journal of Biological Regulators and Homeostatic Agents. 34, 4, p. 127-129 3 p.

    Research output: Contribution to journalLetterpeer-review

  • De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome: Genetics in Medicine

    Cappuccio, G., Sayou, C., Tanno, P. L., Tisserant, E., Bruel, A-L., Kennani, S. E., Sá, J., Low, K. J., Dias, C., Havlovicová, M., Hančárová, M., Eichler, E. E., Devillard, F., Moutton, S., Van-Gils, J., Dubourg, C., Odent, S., Gerard, B., Piton, A., Yamamoto, T. & 52 others, Okamoto, N., Firth, H., Metcalfe, K., Moh, A., Chapman, K. A., Aref-Eshghi, E., Kerkhof, J., Torella, A., Nigro, V., Perrin, L., Piard, J., Le Guyader, G., Jouan, T., Thauvin-Robinet, C., Duffourd, Y., George-Abraham, J. K., Buchanan, C. A., Williams, D., Kini, U., Wilson, K., Brunetti-Pierri, N., Casari, G., Pinelli, M., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Capra, V., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Zollino, M., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D’Arrigo, S., Sousa, S. B., Hennekam, R. C. M., Sadikovic, B., Thevenon, J., Govin, J., Vitobello, A. & Program, T. U. D., 2020, In: Gen. Med.. 22, 11, p. 1838-1850 13 p.

    Research output: Contribution to journalArticlepeer-review

  • Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia

    Sambri, I., Massa, F., Gullo, F., Meneghini, S., Cassina, L., Carraro, M., Dina, G., Quattrini, A., Patanella, L., Carissimo, A., Iuliano, A., Santorelli, F., Codazzi, F., Grohovaz, F., Bernardi, P., Becchetti, A. & Casari, G., Nov 2020, In: EBioMedicine. 61, 103050.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, NIAID-USUHS/TAGC COVID Immunity Group, COVID Clinicians, Imagine COVID Group, COVID-STORM Clinicians, COVID-STORM Clinicians, French COVID Cohort Study Group & CoV-Contact Cohort, Oct 23 2020, In: Science. 370, 6515, eabd4570.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Novel scn5a p.V1429m variant segregation in a family with brugada syndrome

    Monasky, M. M., Micaglio, E., Ciconte, G., Borrelli, V., Giannelli, L., Vicedomini, G., Ghiroldi, A., Anastasia, L., Locati, E. T., Benedetti, S., Di Resta, C., Casari, G. & Pappone, C., Aug 2 2020, In: International Journal of Molecular Sciences. 21, 16, p. 1-8 8 p., 5902.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Novel scn5a p.V1429m variant segregation in a family with brugada syndrome: International Journal of Molecular Sciences

    Monasky, M. M., Micaglio, E., Ciconte, G., Borrelli, V., Giannelli, L., Vicedomini, G., Ghiroldi, A., Anastasia, L., Locati, E. T., Benedetti, S., Di Resta, C., Casari, G. & Pappone, C., 2020, In: Int. J. Mol. Sci.. 21, 16, p. 1-8 8 p.

    Research output: Contribution to journalArticlepeer-review

  • 2019

    Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

    TUDP Study Group, Oct 1 2019, In: Cerebellum. 18, 5, p. 972-975 4 p.

    Research output: Contribution to journalArticlepeer-review

  • Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions: Cephalalgia : an international journal of headache

    Iure, A., Mazzocchetti, P., Bastioli, G., Picconi, B., Costa, C., Marchionni, I., Casari, G., Tozzi, A., Pietrobon, D. & Calabresi, P., 2019, In: Cephalalgia. 39, 10, p. 1333-1338 6 p.

    Research output: Contribution to journalArticlepeer-review

  • Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions

    Iure, A. D., Mazzocchetti, P., Bastioli, G., Picconi, B., Costa, C., Marchionni, I., Casari, G., Tozzi, A., Pietrobon, D. & Calabresi, P., Sep 1 2019, In: Cephalalgia. 39, 10, p. 1333-1338 6 p.

    Research output: Contribution to journalArticlepeer-review

  • Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2: Nature Communications

    Corbett, MA., Kroes, T., Veneziano, L., Bennett, MF., Florian, R., Schneider, AL., Coppola, A., Licchetta, L., Franceschetti, S., Suppa, A., Wenger, A., Mei, D., Pendziwiat, M., Kaya, S., Delledonne, M., Straussberg, R., Xumerle, L., Regan, B., Crompton, D., van Rootselaar, AF. & 49 others, Correll, A., Catford, R., Bisulli, F., Chakraborty, S., Baldassari, S., Tinuper, P., Barton, K., Carswell, S., Smith, M., Berardelli, A., Carroll, R., Gardner, A., Friend, KL., Blatt, I., Iacomino, M., Di Bonaventura, C., Striano, S., Buratti, J., Keren, B., Nava, C., Forlani, S., Rudolf, G., Hirsch, E., Leguern, E., Labauge, P., Balestrini, S., Sander, JW., Afawi, Z., Helbig, I., Ishiura, H., Tsuji, S., Sisodiya, SM., Casari, G., Sadleir, LG., van Coller, R., Tijssen, MAJ., Klein, KM., van den Maagdenberg, AMJM., Zara, F., Guerrini, R., Berkovic, SF., Pippucci, T., Canafoglia, L., Bahlo, M., Striano, P., Scheffer, IE., Brancati, F., Depienne, C. & Gecz, J., 2019, In: Nature Communications. 10

    Research output: Contribution to journalArticlepeer-review

  • Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

    Mancini, C., Hoxha, E., Iommarini, L., Brussino, A., Richter, U., Montarolo, F., Cagnoli, C., Parolisi, R., Gondor Morosini, D. I., Nicolò, V., Maltecca, F., Muratori, L., Ronchi, G., Geuna, S., Arnaboldi, F., Donetti, E., Giorgio, E., Cavalieri, S., Di Gregorio, E., Pozzi, E. & 11 others, Ferrero, M., Riberi, E., Casari, G., Altruda, F., Turco, E., Gasparre, G., Battersby, B. J., Porcelli, A. M., Ferrero, E., Brusco, A. & Tempia, F., Apr 2019, In: Neurobiology of Disease. 124, p. 14-28 15 p.

    Research output: Contribution to journalArticlepeer-review

  • Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

    Tulli, S., Del Bondio, A., Baderna, V., Mazza, D., Codazzi, F., Pierson, T. M., Ambrosi, A., Nolte, D., Goizet, C., Toro, C., Baets, J., Deconinck, T., Dejonghe, P., Mandich, P., Casari, G. & Maltecca, F., Aug 1 2019, In: Journal of Medical Genetics. 56, 8, p. 499-511 13 p.

    Research output: Contribution to journalArticlepeer-review

  • Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation: Journal of Medical Genetics

    Tulli, S., Del Bondio, A., Baderna, V., Mazza, D., Codazzi, F., Pierson, TM., Ambrosi, A., Nolte, D., Goizet, C., Toro, C., Baets, J., Deconinck, T., Dejonghe, P., Mandich, P., Casari, G. & Maltecca, F., 2019, In: Journal of Medical Genetics. 56, 8, p. 499-511 13 p.

    Research output: Contribution to journalArticlepeer-review

  • TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

    Lüthy, K., Mei, D., Fischer, B., De Fusco, M., Swerts, J., Paesmans, J., Parrini, E., Lubarr, N., Meijer, I. A., Mackenzie, K. M., Lee, W. T., Cittaro, D., Aridon, P., Schoovaerts, N., Versées, W., Verstreken, P., Casari, G. & Guerrini, R., Aug 1 2019, In: Brain : a journal of neurology. 142, 8, p. 2319-2335 17 p.

    Research output: Contribution to journalArticlepeer-review

  • Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions

    Bettegazzi, B., Pelizzoni, I., Scarzella, F. S., Restelli, L. M., Zacchetti, D., Maltecca, F., Casari, G., Grohovaz, F. & Codazzi, F., Jan 1 2019, In: Oxidative Medicine and Cellular Longevity. 2019, 4721950.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • 2018

    m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics

    Consolato, F., Maltecca, F., Tulli, S., Sambri, I. & Casari, G., 2018, In: Journal of Cell Science. 131, 7, jcs213546.

    Research output: Contribution to journalArticlepeer-review

  • VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

    TUDP, Dec 12 2018, In: BMC Bioinformatics. 19, 1, p. 477 14 p.

    Research output: Contribution to journalArticlepeer-review

  • 2016

    A TRAPPC6B splicing variant associates to restless legs syndrome

    Aridon, P., De Fusco, M., Winkelmann, J. W., Zucconi, M., Arnao, V., Ferini-Strambi, L. & Casari, G., Oct 1 2016, In: Parkinsonism and Related Disorders. 31, p. 135-138 4 p.

    Research output: Contribution to journalArticlepeer-review

  • Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2

    Capuani, C., Melone, M., Tottene, A., Bragina, L., Crivellaro, G., Santello, M., Casari, G., Conti, F. & Pietrobon, D., Aug 1 2016, In: EMBO Molecular Medicine. 8, 8, p. 967-986 20 p.

    Research output: Contribution to journalArticlepeer-review

  • Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2

    Capuani, C., Melone, M., Tottene, A., Bragina, L., Crivellaro, G., Santello, M., Casari, G. N., Conti, F. & Pietrobon, D., Aug 1 2016, In: EMBO Molecular Medicine. 8, 8, p. 967-986 20 p.

    Research output: Contribution to journalArticlepeer-review

  • Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2

    Henden, L., Freytag, S., Afawi, Z., Baldassari, S., Berkovic, S. F., Bisulli, F., Canafoglia, L., Casari, G., Crompton, D. E., Depienne, C., Gecz, J., Guerrini, R., Helbig, I., Hirsch, E., Keren, B., Klein, K. M., Labauge, P., LeGuern, E., Licchetta, L., Mei, D. & 9 others, Nava, C., Pippucci, T., Rudolf, G., Scheffer, I. E., Striano, P., Tinuper, P., Zara, F., Corbett, M. & Bahlo, M., Oct 1 2016, In: Human Genetics. 135, 10, p. 1117 - 1125 9 p.

    Research output: Contribution to journalArticlepeer-review

  • Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2

    Henden, L., Freytag, S., Afawi, Z., Baldassari, S., Berkovic, S. F., Bisulli, F., Canafoglia, L., Casari, G. N., Crompton, D. E., Depienne, C., Gecz, J., Guerrini, R., Helbig, I., Hirsch, E., Keren, B., Klein, K. M., Labauge, P., Leguern, E., Licchetta, L., Mei, D. & 9 others, Nava, C., Pippucci, T., Rudolf, G., Scheffer, I. E., Striano, P., Tinuper, P., Zara, F., Corbett, M. A. & Bahlo, M., Jul 1 2016, (Accepted/In press) In: Human Genetics. p. 1-9 9 p.

    Research output: Contribution to journalArticlepeer-review

  • Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2

    Henden, L., Freytag, S., Afawi, Z., Baldassari, S., Berkovic, S. F., Bisulli, F., Canafoglia, L., Casari, G. N., Crompton, D. E., Depienne, C., Gecz, J., Guerrini, R., Helbig, I., Hirsch, E., Keren, B., Klein, K. M., Labauge, P., Leguern, E., Licchetta, L., Mei, D. & 9 others, Nava, C., Pippucci, T., Rudolf, G., Scheffer, I. E., Striano, P., Tinuper, P., Zara, F., Corbett, M. A. & Bahlo, M., 2016, In: Human Genetics. p. 1-9 9 p.

    Research output: Contribution to journalArticlepeer-review

  • 2015

    Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

    Maltecca, F., Baseggio, E., Consolato, F., Mazza, D., Podini, P., Young, S. M., Drago, I., Bahr, B. A., Puliti, A., Codazzi, F., Quattrini, A. & Casari, G., Jan 2 2015, In: Journal of Clinical Investigation. 125, 1, p. 263-274 12 p.

    Research output: Contribution to journalArticlepeer-review

  • 2014

    A novel truncated form of eNOS associates with altered vascular function

    Galluccio, E., Cassina, L., Russo, I., Gelmini, F., Setola, E., Rampoldi, L., Citterio, L., Rossodivita, A., Kamami, M., Colombo, A., Alfieri, O., Carini, M., Bosi, E., Trovati, M., Piatti, P., Monti, L. D. & Casari, G., Mar 1 2014, In: Cardiovascular Research. 101, 3, p. 492-502 11 p.

    Research output: Contribution to journalArticlepeer-review

  • Antisense transcription at the TRPM2 locus as a novel prognostic marker and therapeutic target in prostate cancer

    Orfanelli, U., Jachetti, E., Chiacchiera, F., Grioni, M., Brambilla, P., Briganti, A., Freschi, M., Martinelli-Boneschi, F., Doglioni, C., Montorsi, F., Bellone, M., Casari, G., Pasini, D. & Lavorgna, G., Jun 9 2014, In: Oncogene. 34, 16, p. 2094-2102 9 p.

    Research output: Contribution to journalArticlepeer-review

  • Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis

    Daniele, T., Hurbain, I., Vago, R., Casari, G., Raposo, G., Tacchetti, C. & Schiaffino, M. V., Feb 17 2014, In: Current Biology. 24, 4, p. 393-403 11 p.

    Research output: Contribution to journalArticlepeer-review

  • Multi-electrode array study of neuronal cultures expressing nicotinic (β2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy

    Gullo, F., Manfredi, I., Lecchi, M., Casari, G., Wanke, E. & Becchetti, A., Jul 24 2014, In: Frontiers in Neural Circuits. 8, JULY, 87.

    Research output: Contribution to journalArticlepeer-review

  • The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy

    De Fusco, M., Vago, R., Striano, P., Di Bonaventura, C., Zara, F., Mei, D., Kim, M. S., Muallem, S., Chen, Y., Wang, Q., Guerrini, R. & Casari, G., Jan 2014, In: Annals of Neurology. 75, 1, p. 77-87 11 p.

    Research output: Contribution to journalArticlepeer-review

  • What makes Y family Pols potential candidates for molecular targeted therapies and novel biotechnological applications

    Tomasso, A., Casari, G. & Maga, G., 2014, In: Current Molecular Medicine. 14, 1, p. 96-114 19 p.

    Research output: Contribution to journalArticlepeer-review

  • 2013

    Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

    Mancini, C., Roncaglia, P., Brussino, A., Stevanin, G., Lo Buono, N., Krmac, H., Maltecca, F., Gazzano, E., Bartoletti Stella, A., Calvaruso, M. A., Iommarini, L., Cagnoli, C., Forlani, S., Le Ber, I., Durr, A., Brice, A., Ghigo, D., Casari, G., Porcelli, A. M., Funaro, A. & 3 others, Gasparre, G., Gustincich, S. & Brusco, A., 2013, In: BMC Medical Genomics. 6, 1, 22.

    Research output: Contribution to journalArticlepeer-review

  • Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up

    Minelli, C., De Grandi, A., Weichenberger, C. X., Gögele, M., Modenese, M., Attia, J., Barrett, J. H., Boehnke, M., Borsani, G., Casari, G., Fox, C. S., Freina, T., Hicks, A. A., Marroni, F., Parmigiani, G., Pastore, A., Pattaro, C., Pfeufer, A., Ruggeri, F., Schwienbacher, C. & 4 others, Taliun, D., Pramstaller, P. P., Domingues, F. S. & Thompson, J. R., Feb 2013, In: Genetic Epidemiology. 37, 2, p. 205-213 9 p.

    Research output: Contribution to journalArticlepeer-review

  • Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

    Magnoni, R., Palmfeldt, J., Christensen, J. H., Sand, M., Maltecca, F., Corydon, T. J., West, M., Casari, G. & Bross, P., Jun 2013, In: Neurobiology of Disease. 54, p. 12-23 12 p.

    Research output: Contribution to journalArticlepeer-review

  • SNP Prioritization Using a Bayesian Probability of Association

    Thompson, J. R., Gögele, M., Weichenberger, C. X., Modenese, M., Attia, J., Barrett, J. H., Boehnke, M., De Grandi, A., Domingues, F. S., Hicks, A. A., Marroni, F., Pattaro, C., Ruggeri, F., Borsani, G., Casari, G., Parmigiani, G., Pastore, A., Pfeufer, A., Schwienbacher, C., Taliun, D. & 4 others, Consortium, C., Fox, C. S., Pramstaller, P. P. & Minelli, C., Feb 2013, In: Genetic Epidemiology. 37, 2, p. 214-221 8 p.

    Research output: Contribution to journalArticlepeer-review

  • 2012

    Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4)

    Palmisano, I., Della Chiara, G., D'Ambrosio, R. L., Huichalaf, C., Brambilla, P., Corbetta, S., Riba, M., Piccirillo, R., Valente, S., Casari, G., Mai, A., Boneschi, F. M., Gabellini, D., Poli, G. & Schiaffino, M. V., Aug 21 2012, In: Proceedings of the National Academy of Sciences of the United States of America. 109, 34

    Research output: Contribution to journalArticlepeer-review

  • De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

    Heinzen, E. L., Swoboda, K. J., Hitomi, Y., Gurrieri, F., De Vries, B., Tiziano, F. D., Fontaine, B., Walley, N. M., Heavin, S., Panagiotakaki, E., Fiori, S., Abiusi, E., Di Pietro, L., Sweney, M. T., Newcomb, T. M., Viollet, L., Huff, C., Jorde, L. B., Reyna, S. P., Murphy, K. J. & 58 others, Shianna, K. V., Gumbs, C. E., Little, L., Silver, K., Ptáček, L. J., Haan, J., Ferrari, M. D., Bye, A. M., Herkes, G. K., Whitelaw, C. M., Webb, D., Lynch, B. J., Uldall, P., King, M. D., Scheffer, I. E., Neri, G., Arzimanoglou, A., Van Den Maagdenberg, A. M. J. M., Sisodiya, S. M., Mikati, M. A., Goldstein, D. B., Koelewijn, S., Kamphorst, J., Geilenkirchen, M., Pelzer, N., Ferrari, M., Van Den Maagdenberg, A., Zucca, C., Franchini, F., Vavassori, R., Giannotta, M., Gobbi, G., Granata, T., Nardocci, N., De Grandis, E., Veneselli, E., Stagnaro, M., Vigevano, F., Oechsler, C., Nicole, S., Ninan, M., Neville, B., Ebinger, F., Fons, C., Campistol, J., Kemlink, D., Nevsimalova, S., Laan, L., Peeters-Scholte, C., Casaer, P., Casari, G., Sange, G., Spiel, G., Boneschi, F. M., Bassi, M. T., Schyns, T., Crawley, F. & Poncelin, D., Sep 2012, In: Nature Genetics. 44, 9, p. 1030-1034 5 p.

    Research output: Contribution to journalArticlepeer-review

  • Guidelines for the use and interpretation of assays for monitoring autophagy

    Klionsky, D. J., Abdalla, F. C., Abeliovich, H., Abraham, R. T., Acevedo-Arozena, A., Adeli, K., Agholme, L., Agnello, M., Agostinis, P., Aguirre-Ghiso, J. A., Ahn, H. J., Ait-Mohamed, O., Ait-Si-Ali, S., Akematsu, T., Akira, S., Al-Younes, H. M., Al-Zeer, M. A., Albert, M. L., Albin, R. L., Alegre-Abarrategui, J. & 1,249 others, Aleo, M. F., Alirezaei, M., Almasan, A., Almonte-Becerril, M., Amano, A., Amaravadi, R., Amarnath, S., Amer, A. O., Andrieu-Abadie, N., Anantharam, V., Ann, D. K., Anoopkumar-Dukie, S., Aoki, H., Apostolova, N., Arancia, G., Aris, J. P., Asanuma, K., Asare, N. Y. O., Ashida, H., Askanas, V., Askew, D. S., Auberger, P., Baba, M., Backues, S. K., Baehrecke, E. H., Bahr, B. A., Bai, X. Y., Bailly, Y., Baiocchi, R., Baldini, G., Balduini, W., Ballabio, A., Bamber, B. A., Bampton, E. T. W., Bánhegyi, G., Bartholomew, C. R., Bassham, D. C., Bast, R. C., Batoko, H., Bay, B. H., Beau, I., Béchet, D. M., Begley, T. J., Behl, C., Behrends, C., Bekri, S., Bellaire, B., Bendall, L. J., Benetti, L., Berliocchi, L., Bernardi, H., Bernassola, F., Besteiro, S., Bhatia-Kissova, I., Bi, X., Biard-Piechaczyk, M., Blum, J. S., Boise, L. H., Bonaldo, P., Boone, D. L., Bornhauser, B. C., Bortoluci, K. R., Bossis, I., Bost, F., Bourquin, J. P., Boya, P., Boyer-Guittaut, M., Bozhkov, P. V., Brady, N. R., Brancolini, C., Brech, A., Brenman, J. E., Brennand, A., Bresnick, E. H., Brest, P., Bridges, D., Bristol, M. L., Brookes, P. S., Brown, E. J., Brumell, J. H., Brunetti-Pierri, N., Brunk, U. T., Bulman, D. E., Bultman, S. J., Bultynck, G., Burbulla, L. F., Bursch, W., Butchar, J. P., Buzgariu, W., Bydlowski, S. P., Cadwell, K., Cahová, M., Cai, D., Cai, J., Cai, Q., Calabretta, B., Calvo-Garrido, J., Camougrand, N., Campanella, M., Campos-Salinas, J., Candi, E., Cao, L., Caplan, A. B., Carding, S. R., Cardoso, S. M., Carew, J. S., Carlin, C. R., Carmignac, V., Carneiro, L. A. M., Carra, S., Caruso, R. A., Casari, G., Casas, C., Castino, R., Cebollero, E., Cecconi, F., Celli, J., Chaachouay, H., Chae, H. J., Chai, C. Y., Chan, D. C., Chan, E. Y., Chang, R. C. C., Che, C. M., Chen, C. C., Chen, G. C., Chen, G. Q., Chen, M., Chen, Q., Chen, S. S. L., Chen, W., Chen, X., Chen, X., Chen, X., Chen, Y. G., Chen, Y., Chen, Y., Chen, Y. J., Chen, Z., Cheng, A., Cheng, C. H. K., Cheng, Y., Cheong, H., Cheong, J. H., Cherry, S., Chess-Williams, R., Cheung, Z. H., Chevet, E., Chiang, H. L., Chiarelli, R., Chiba, T., Chin, L. S., Chiou, S. H., Chisari, F. V., Cho, C. H., Cho, D. H., Choi, A. M. K., Choi, D., Choi, K. S., Choi, M. E., Chouaib, S., Choubey, D., Choubey, V., Chu, C. T., Chuang, T. H., Chueh, S. H., Chun, T., Chwae, Y. J., Chye, M. L., Ciarcia, R., Ciriolo, M. R., Clague, M. J., Clark, R. S. B., Clarke, P. G. H., Clarke, R., Codogno, P., Coller, H. A., Colombo, M. I., Comincini, S., Condello, M., Condorelli, F., Cookson, M. R., Coombs, G. H., Coppens, I., Corbalan, R., Cossart, P., Costelli, P., Costes, S., Coto-Montes, A., Couve, E., Coxon, F. P., Cregg, J. M., Crespo, J. L., Cronjé, M. J., Cuervo, A. M., Cullen, J. J., Czaja, M. J., D'Amelio, M., Darfeuille-Michaud, A., Davids, L. M., Davies, F. E., De Felici, M., De Groot, J. F., De Haan, C. A. M., De Martino, L., De Milito, A., De Tata, V., Debnath, J., Degterev, A., Dehay, B., Delbridge, L. M. D., Demarchi, F., Deng, Y. Z., Dengjel, J., Dent, P., Denton, D., Deretic, V., Desai, S. D., Devenish, R. J., Di Gioacchino, M., Di Paolo, G., Di Pietro, C., Díaz-Araya, G., Díaz-Laviada, I., Diaz-Meco, M. T., Diaz-Nido, J., Dikic, I., Dinesh-Kumar, S. P., Ding, W. X., Distelhorst, C. W., Diwan, A., Djavaheri-Mergny, M., Dokudovskaya, S., Dong, Z., Dorsey, F. C., Dosenko, V., Dowling, J. J., Doxsey, S., Dreux, M., Drew, M. E., Duan, Q., Duchosal, M. A., Duff, K., Dugail, I., Durbeej, M., Duszenko, M., Edelstein, C. L., Edinger, A. L., Egea, G., Eichinger, L., Eissa, N. T., Ekmekcioglu, S., El-Deiry, W. S., Elazar, Z., Elgendy, M., Ellerby, L. M., Er Eng, K., Engelbrecht, A. M., Engelender, S., Erenpreisa, J., Escalante, R., Esclatine, A., Eskelinen, E. L., Espert, L., Espina, V., Fan, H., Fan, J., Fan, Q. W., Fan, Z., Fang, S., Fang, Y., Fanto, M., Fanzani, A., Farkas, T., Farré, J. C., Faure, M., Fechheimer, M., Feng, C. G., Feng, J., Feng, Q., Feng, Y., Fésüs, L., Feuer, R., Figueiredo-Pereira, M. E., Fimia, G. M., Fingar, D. C., Finkbeiner, S., Finkel, T., Finley, K. D., Fiorito, F., Fisher, E. A., Fisher, P. B., Flajolet, M., Florez-McClure, M. L., Florio, S., Fon, E. A., Fornai, F., Fortunato, F., Fotedar, R., Fowler, D. H., Fox, H. S., Franco, R., Frankel, L. B., Fransen, M., Fuentes, J. M., Fueyo, J., Fujii, J., Fujisaki, K., Fujita, E., Fukuda, M., Furukawa, R. H., Gaestel, M., Gailly, P., Gajewska, M., Galliot, B., Galy, V., Ganesh, S., Ganetzky, B., Ganley, I. G., Gao, F. B., Gao, G. F., Gao, J., Garcia, L., Garcia-Manero, G., Garcia-Marcos, M., Garmyn, M., Gartel, A. L., Gatti, E., Gautel, M., Gawriluk, T. R., Gegg, M. E., Geng, J., Germain, M., Gestwicki, J. E., Gewirtz, D. A., Ghavami, S., Ghosh, P., Giammarioli, A. M., Giatromanolaki, A. N., Gibson, S. B., Gilkerson, R. W., Ginger, M. L., Ginsberg, H. N., Golab, J., Goligorsky, M. S., Golstein, P., Gomez-Manzano, C., Goncu, E., Gongora, C., Gonzalez, C. D., Gonzalez, R., González-Estévez, C., González-Polo, R. A., Gonzalez-Rey, E., Gorbunov, N. V., Gorski, S., Goruppi, S., Gottlieb, R. A., Gozuacik, D., Granato, G. E., Grant, G. D., Green, K. N., Gregorc, A., Gros, F., Grose, C., Grunt, T. W., Gual, P., Guan, J. L., Guan, K. L., Guichard, S. M., Gukovskaya, A. S., Gukovsky, I., Gunst, J., Gustafsson, A. B., Halayko, A. J., Hale, A. N., Halonen, S. K., Hamasaki, M., Han, F., Han, T., Hancock, M. K., Hansen, M., Harada, H., Harada, M., Hardt, S. E., Harper, J. W., Harris, A. L., Harris, J., Harris, S. D., Hashimoto, M., Haspel, J. A., Hayashi, S. I., Hazelhurst, L. A., He, C., He, Y. W., Hébert, M. J., Heidenreich, K. A., Helfrich, M. H., Helgason, G. V., Henske, E. P., Herman, B., Herman, P. K., Hetz, C., Hilfiker, S., Hill, J. A., Hocking, L. J., Hofman, P., Hofmann, T. G., Höhfeld, J., Holyoake, T. L., Hong, M. H., Hood, D. A., Hotamisligil, G. S., Houwerzijl, E. J., Høyer-Hansen, M., Hu, B., Hu, C. A. A., Hu, H. M., Hua, Y., Huang, C., Huang, J., Huang, S., Huang, W. P., Huber, T. B., Huh, W. K., Hung, T. H., Hupp, T. R., Hur, G. M., Hurley, J. B., Hussain, S. N. A., Hussey, P. J., Hwang, J. J., Hwang, S., Ichihara, A., Ilkhanizadeh, S., Inoki, K., Into, T., Iovane, V., Iovanna, J. L., Ip, N. Y., Isaka, Y., Ishida, H., Isidoro, C., Isobe, K. I., Iwasaki, A., Izquierdo, M., Izumi, Y., Jaakkola, P. M., Jäättelä, M., Jackson, G. R., Jackson, W. T., Janji, B., Jendrach, M., Jeon, J. H., Jeung, E. B., Jiang, H., Jiang, H., Jiang, J. X., Jiang, M., Jiang, Q., Jiang, X., Jiménez, A., Jin, M., Jin, S., Joe, C. O., Johansen, T., Johnson, D. E., Johnson, G. V. W., Jones, N. L., Joseph, B., Joseph, S. K., Joubert, A. M., Juhász, G., Juillerat-Jeanneret, L., Jung, C. H., Jung, Y. K., Kaarniranta, K., Kaasik, A., Kabuta, T., Kadowaki, M., Kagedal, K., Kamada, Y., Kaminskyy, V. O., Kampinga, H. H., Kanamori, H., Kang, C., Kang, K. B., Il Kang, K., Kang, R., Kang, Y. A., Kanki, T., Kanneganti, T. D., Kanno, H., Kanthasamy, A. G., Kanthasamy, A., Karantza, V., Kaushal, G. P., Kaushik, S., Kawazoe, Y., Ke, P. Y., Kehrl, J. H., Kelekar, A., Kerkhoff, C., Kessel, D. H., Khalil, H., Kiel, J. A. K. W., Kiger, A. A., Kihara, A., Kim, D. R., Kim, D. H., Kim, D. H., Kim, E. K., Kim, H. R., Kim, J. S., Kim, J. H., Kim, J. C., Kim, J. K., Kim, P. K., Kim, S. W., Kim, Y. S., Kim, Y., Kimchi, A., Kimmelman, A. C., King, J. S., Kinsella, T. J., Kirkin, V., Kirshenbaum, L. A., Kitamoto, K., Kitazato, K., Klein, L., Klimecki, W. T., Klucken, J., Knecht, E., Ko, B. C. B., Koch, J. C., Koga, H., Koh, J. Y., Koh, Y. H., Koike, M., Komatsu, M., Kominami, E., Kong, H. J., Kong, W. J., Korolchuk, V. I., Kotake, Y., Koukourakis, M. I., Kouri Flores, J. B., Kovács, A. L., Kraft, C., Krainc, D., Krämer, H., Kretz-Remy, C., Krichevsky, A. M., Kroemer, G., Krüger, R., Krut, O., Ktistakis, N. T., Kuan, C. Y., Kucharczyk, R., Kumar, A., Kumar, R., Kumar, S., Kundu, M., Kung, H. J., Kurz, T., Kwon, H. J., La Spada, A. R., Lafont, F., Lamark, T., Landry, J., Lane, J. D., Lapaquette, P., Laporte, J. F., László, L., Lavandero, S., Lavoie, J. N., Layfield, R., Lazo, P. A., Le, W., Le Cam, L., Ledbetter, D. J., Lee, A. J. X., Lee, B. W., Lee, G. M., Lee, J., Lee, J. H., Lee, M., Lee, M. S., Lee, S. H., Leeuwenburgh, C., Legembre, P., Legouis, R., Lehmann, M., Lei, H. Y., Lei, Q. Y., Leib, D. A., Leiro, J., Lemasters, J. J., Lemoine, A., Lesniak, M. S., Lev, D., Levenson, V. V., Levine, B., Levy, E., Li, F., Li, J. L., Li, L., Li, S., Li, W., Li, X. J., Li, Y. B., Li, Y. P., Liang, C., Liang, Q., Liao, Y. F., Liberski, P. P., Lieberman, A., Lim, H. J., Lim, K. L., Lim, K., Lin, C. F., Lin, F. C., Lin, J., Lin, J. D., Lin, K., Lin, W. W., Lin, W. C., Lin, Y. L., Linden, R., Lingor, P., Lippincott-Schwartz, J., Lisanti, M. P., Liton, P. B., Liu, B., Liu, C. F., Liu, K., Liu, L., Liu, Q. A., Liu, W., Liu, Y. C., Liu, Y., Lockshin, R. A., Lok, C. N., Lonial, S., Loos, B., Lopez-Berestein, G., López-Otín, C., Lossi, L., Lotze, M. T., Lõw, P., Lu, B., Lu, B., Lu, B., Lu, Z., Luciano, F., Lukacs, N. W., Lund, A. H., Lynch-Day, M. A., Ma, Y., Macian, F., MacKeigan, J. P., Macleod, K. F., Madeo, F., Maiuri, L., Maiuri, M. C., Malagoli, D., Malicdan, M. C. V., Malorni, W., Man, N., Mandelkow, E. M., Manon, S., Manov, I., Mao, K., Mao, X., Mao, Z., Marambaud, P., Marazziti, D., Marcel, Y. L., Marchbank, K., Marchetti, P., Marciniak, S. J., Marcondes, M., Mardi, M., Marfe, G., Mariño, G., Markaki, M., Marten, M. R., Martin, S. J., Martinand-Mari, C., Martinet, W., Martinez-Vicente, M., Masini, M., Matarrese, P., Matsuo, S., Matteoni, R., Mayer, A., Mazure, N. M., McConkey, D. J., McConnell, M. J., McDermott, C., McDonald, C., McInerney, G. M., McKenna, S. L., McLaughlin, B., McLean, P. J., McMaster, C. R., McQuibban, G. A., Meijer, A. J., Meisler, M. H., Meléndez, A., Melia, T. J., Melino, G., Mena, M. A., Menendez, J. A., Menna-Barreto, R. F. S., Menon, M. B., Menzies, F. M., Mercer, C. A., Merighi, A., Merry, D. E., Meschini, S., Meyer, C. G., Meyer, T. F., Miao, C. Y., Miao, J. Y., Michels, P. A. M., Michiels, C., Mijaljica, D., Milojkovic, A., Minucci, S., Miracco, C., Miranti, C. K., Mitroulis, I., Miyazawa, K., Mizushima, N., Mograbi, B., Mohseni, S., Molero, X., Mollereau, B., Mollinedo, F., Momoi, T., Monastyrska, I., Monick, M. M., Monteiro, M. J., Moore, M. N., Mora, R., Moreau, K., Moreira, P. I., Moriyasu, Y., Moscat, J., Mostowy, S., Mottram, J. C., Motyl, T., Moussa, C. E. H., Müller, S., Muller, S., Münger, K., Münz, C., Murphy, L. O., Murphy, M. E., Musarò, A., Mysorekar, I., Nagata, E., Nagata, K., Nahimana, A., Nair, U., Nakagawa, T., Nakahira, K., Nakano, H., Nakatogawa, H., Nanjundan, M., Naqvi, N. I., Narendra, D. P., Narita, M., Navarro, M., Nawrocki, S. T., Nazarko, T. Y., Nemchenko, A., Netea, M. G., Neufeld, T. P., Ney, P. A., Nezis, I. P., Nguyen, H. P., Nie, D., Nishino, I., Nislow, C., Nixon, R. A., Noda, T., Noegel, A. A., Nogalska, A., Noguchi, S., Notterpek, L., Novak, I., Nozaki, T., Nukina, N., Nürnberger, T., Nyfeler, B., Obara, K., Oberley, T. D., Oddo, S., Ogawa, M., Ohashi, T., Okamoto, K., Oleinick, N. L., Oliver, F. J., Olsen, L. J., Olsson, S., Opota, O., Osborne, T. F., Ostrander, G. K., Otsu, K., Ou, J. H. J., Ouimet, M., Overholtzer, M., Ozpolat, B., Paganetti, P., Pagnini, U., Pallet, N., Palmer, G. E., Palumbo, C., Pan, T., Panaretakis, T., Pandey, U. B., Papackova, Z., Papassideri, I., Paris, I., Park, J., Park, O. K., Parys, J. B., Parzych, K. R., Patschan, S., Patterson, C., Pattingre, S., Pawelek, J. M., Peng, J., Perlmutter, D. H., Perrotta, I., Perry, G., Pervaiz, S., Peter, M., Peters, G. J., Petersen, M., Petrovski, G., Phang, J. M., Piacentini, M., Pierre, P., Pierrefite-Carle, V., Pierron, G., Pinkas-Kramarski, R., Piras, A., Piri, N., Platanias, L. C., Pöggeler, S., Poirot, M., Poletti, A., Poüs, C., Pozuelo-Rubio, M., Prætorius-Ibba, M., Prasad, A., Prescott, M., Priault, M., Produit-Zengaffinen, N., Progulske-Fox, A., Proikas-Cezanne, T., Przedborski, S., Przyklenk, K., Puertollano, R., Puyal, J., Qian, S. B., Qin, L., Qin, Z. H., Quaggin, S. E., Raben, N., Rabinowich, H., Rabkin, S. W., Rahman, I., Rami, A., Ramm, G., Randall, G., Randow, F., Rao, V. A., Rathmell, J. C., Ravikumar, B., Ray, S. K., Reed, B. H., Reed, J. C., Reggiori, F., Régnier-Vigouroux, A., Reichert, A. S., Reiners, J. J., Reiter, R. J., Ren, J., Revuelta, J. L., Rhodes, C. J., Ritis, K., Rizzo, E., Robbins, J., Roberge, M., Roca, H., Roccheri, M. C., Rocchi, S., Rodemann, H. P., De Córdoba, S. R., Rohrer, B., Roninson, I. B., Rosen, K., Rost-Roszkowska, M. M., Rouis, M., Rouschop, K. M. A., Rovetta, F., Rubin, B. P., Rubinsztein, D. C., Ruckdeschel, K., Rucker, E. B., Rudich, A., Rudolf, E., Ruiz-Opazo, N., Russo, R., Rusten, T. E., Ryan, K. M., Ryter, S. W., Sabatini, D. M., Sadoshima, J., Saha, T., Saitoh, T., Sakagami, H., Sakai, Y., Salekdeh, G. H., Salomoni, P., Salvaterra, P. M., Salvesen, G., Salvioli, R., Sanchez, A. M. J., Sánchez-Alcázar, J. A., Sánchez-Prieto, R., Sandri, M., Sankar, U., Sansanwal, P., Santambrogio, L., Saran, S., Sarkar, S., Sarwal, M., Sasakawa, C., Sasnauskiene, A., Sass, M., Sato, K., Sato, M., Schapira, A. H. V., Scharl, M., Schätzl, H. M., Scheper, W., Schiaffino, S., Schneider, C., Schneider, M. E., Schneider-Stock, R., Schoenlein, P. V., Schorderet, D. F., Schüller, C., Schwartz, G. K., Scorrano, L., Sealy, L., Seglen, P. O., Segura-Aguilar, J., Seiliez, I., Seleverstov, O., Sell, C., Seo, J. B., Separovic, D., Setaluri, V., Setoguchi, T., Settembre, C., Shacka, J. J., Shanmugam, M., Shapiro, I. M., Shaulian, E., Shaw, R. J., Shelhamer, J. H., Shen, H. M., Shen, W. C., Sheng, Z. H., Shi, Y., Shibuya, K., Shidoji, Y., Shieh, J. J., Shih, C. M., Shimada, Y., Shimizu, S., Shintani, T., Shirihai, O. S., Shore, G. C., Sibirny, A. A., Sidhu, S. B., Sikorska, B., Silva-Zacarin, E. C. M., Simmons, A., Simon, A. K., Simon, H. U., Simone, C., Simonsen, A., Sinclair, D. A., Singh, R., Sinha, D., Sinicrope, F. A., Sirko, A., Siu, P. M., Sivridis, E., Skop, V., Skulachev, V. P., Slack, R. S., Smaili, S. S., Smith, D. R., Soengas, M. S., Soldati, T., Song, X., Sood, A. K., Soong, T. W., Sotgia, F., Spector, S. A., Spies, C. D., Springer, W., Srinivasula, S. M., Stefanis, L., Steffan, J. S., Stendel, R., Stenmark, H., Stephanou, A., Stern, S. T., Sternberg, C., Stork, B., Strålfors, P., Subauste, C. S., Sui, X., Sulzer, D., Sun, J., Sun, S. Y., Sun, Z. J., Sung, J. J. Y., Suzuki, K., Suzuki, T., Swanson, M. S., Swanton, C., Sweeney, S. T., Sy, L. K., Szabadkai, G., Tabas, I., Taegtmeyer, H., Tafani, M., Takács-Vellai, K., Takano, Y., Takegawa, K., Takemura, G., Takeshita, F., Talbot, N. J., Tan, K. S. W., Tanaka, K., Tanaka, K., Tang, D., Tang, D., Tanida, I., Tannous, B. A., Tavernarakis, N., Taylor, G. S., Taylor, G. A., Taylor, J. P., Terada, A. S., Terman, A., Tettamanti, G., Thevissen, K., Thompson, C. B., Thorburn, A., Thumm, M., Tian, F., Tian, Y., Tocchini-Valentini, G., Tolkovsky, A. M., Tomino, Y., Tönges, L., Tooze, S. A., Tournier, C., Tower, J., Towns, R., Trajkovic, V., Travassos, L. H., Tsai, T. F., Tschan, M. P., Tsubata, T., Tsung, A., Turk, B., Turner, L. S., Tyagi, S. C., Uchiyama, Y., Ueno, T., Umekawa, M., Umemiya-Shirafuji, R., Unni, V. K., Vaccaro, M. I., Valente, E. M., Van Den Berghe, G., Van Der Klei, I. J., Van Doorn, W. G., Van Dyk, L. F., Van Egmond, M., Van Grunsven, L. A., Vandenabeele, P., Vandenberghe, W. P., Vanhorebeek, I., Vaquero, E. C., Velasco, G., Vellai, T., Vicencio, J. M., Vierstra, R. D., Vila, M., Vindis, C., Viola, G., Viscomi, M. T., Voitsekhovskaja, O. V., Von Haefen, C., Votruba, M., Wada, K., Wade-Martins, R., Walker, C. L., Walsh, C. M., Walter, J., Wan, X. B., Wang, A., Wang, C., Wang, D., Wang, F., Wang, F., Wang, G., Wang, H., Wang, H. G., Wang, H. D., Wang, J., Wang, K., Wang, M., Wang, R. C., Wang, X., Wang, X., Wang, Y. J., Wang, Y., Wang, Z., Wang, Z. C., Wang, Z., Wansink, D. G., Ward, D. M., Watada, H., Waters, S. L., Webster, P., Wei, L., Weihl, C. C., Weiss, W. A., Welford, S. M., Wen, L. P., Whitehouse, C. A., Whitton, J. L., Whitworth, A. J., Wileman, T., Wiley, J. W., Wilkinson, S., Willbold, D., Williams, R. L., Williamson, P. R., Wouters, B. G., Wu, C., Wu, D. C., Wu, W. K. K., Wyttenbach, A., Xavier, R. J., Xi, Z., Xia, P., Xiao, G., Xie, Z., Xie, Z., Xu, D. Z., Xu, J., Xu, L., Xu, X., Yamamoto, A., Yamamoto, A., Yamashina, S., Yamashita, M., Yan, X., Yanagida, M., Yang, D. S., Yang, E., Yang, J. M., Yang, S. Y., Yang, W., Yang, W. Y., Yang, Z., Yao, M. C., Yao, T. P., Yeganeh, B., Yen, W. L., Yin, J. J., Yin, X. M., Yoo, O. J., Yoon, G., Yoon, S. Y., Yorimitsu, T., Yoshikawa, Y., Yoshimori, T., Yoshimoto, K., You, H. J., Youle, R. J., Younes, A., Yu, L., Yu, L., Yu, S. W., Yu, W. H., Yuan, Z. M., Yue, Z., Yun, C. H., Yuzaki, M., Zabirnyk, O., Silva-Zacarin, E., David Zacks, E., Zacksenhaus, L., Zaffaroni, N., Zakeri, Z., Zeh, H. J., Zeitlin, S. O., Zhang, H., Zhang, H. L., Zhang, J., Zhang, J. P., Zhang, L., Zhang, L., Zhang, M. Y., Zhang, X. D., Zhao, M., Zhao, Y. F., Zhao, Y., Zhao, Z. J., Zheng, X., Zhivotovsky, B., Zhong, Q., Zhou, C. Z., Zhu, C., Zhu, W. G., Zhu, X. F., Zhu, X., Zhu, Y., Zoladek, T., Zong, W. X., Zorzano, A., Zschocke, J. & Zuckerbraun, B., Apr 2012, In: Autophagy. 8, 4, p. 445-544 100 p.

    Research output: Contribution to journalArticlepeer-review

  • Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

    Maltecca, F., De Stefani, D., Cassina, L., Consolato, F., Wasilewski, M., Scorrano, L., Rizzuto, R. & Casari, G., Sep 2012, In: Human Molecular Genetics. 21, 17, p. 3858-3870 13 p., dds214.

    Research output: Contribution to journalArticlepeer-review

  • 2011

    Increased susceptibility to cortical spreading depression in the mouse model of Familial hemiplegic migraine type 2

    Leo, L., Gherardini, L., Barone, V., de Fusco, M., Pietrobon, D., Pizzorusso, T. & Casari, G., Jun 2011, In: PLoS Genetics. 7, 6, e1002129.

    Research output: Contribution to journalArticlepeer-review

  • Influence of 9p21.3 genetic variants on clinical and angiographic outcomes in early-onset myocardial infarction.

    Ardissino, D., Berzuini, C., Merlini, P. A., Mannuccio Mannucci, P., Surti, A., Burtt, N., Voight, B., Tubaro, M., Peyvandi, F., Spreafico, M., Celli, P., Lina, D., Notarangelo, M. F., Ferrario, M., Fetiveau, R., Casari, G., Galli, M., Ribichini, F., Rossi, M. L., Bernardi, F. & 9 others, Marziliano, N., Zonzin, P., Mauri, F., Piazza, A., Foco, L., Bernardinelli, L., Altshuler, D., Kathiresan, S. & Italian Atherosclerosis, Thrombosis, A. T., Jul 19 2011, In: Journal of the American College of Cardiology. 58, 4, p. 426-434 9 p.

    Research output: Contribution to journalArticlepeer-review

  • 2010
  • The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy

    Michiorri, S., Gelmetti, V., Giarda, E., Lombardi, F., Romano, F., Marongiu, R., Nerini-Molteni, S., Sale, P., Vago, R., Arena, G., Torosantucci, L., Cassina, L., Russo, M. A., Dallapiccola, B., Valente, E. M. & Casari, G., Jun 2010, In: Cell Death and Differentiation. 17, 6, p. 962-974 13 p.

    Research output: Contribution to journalArticlepeer-review

  • 2009

    Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly

    Schaeffer, C., Santambrogio, S., Perucca, S., Casari, G. & Rampoldi, L., Jan 15 2009, In: Molecular Biology of the Cell. 20, 2, p. 589-599 11 p.

    Research output: Contribution to journalArticlepeer-review

  • Expression of mutant β2 nicotinic receptors during development is crucial for epileptogenesis

    Manfredi, I., Zani, A. D., Rampoldi, L., Pegorini, S., Bernascone, I., Moretti, M., Gotti, C., Croci, L., Consalez, G. G., Ferini-Strambi, L., Sala, M., Pattini, L. & Casari, G., 2009, In: Human Molecular Genetics. 18, 6, p. 1075-1088 14 p.

    Research output: Contribution to journalArticlepeer-review

  • Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration

    Martinelli, P., La Mattina, V., Bernacchia, A., Magnoni, R., Cerri, F., Cox, G., Quattrini, A., Casari, G. & Rugarli, E. I., 2009, In: Human Molecular Genetics. 18, 11, p. 2001-2013 13 p.

    Research output: Contribution to journalArticlepeer-review

  • Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

    Kathiresan, S., Voight, B. F., Purcell, S., Musunuru, K., Ardissino, D., Mannucci, P. M., Anand, S., Engert, J. C., Samani, N. J., Schunkert, H., Erdmann, J., Reilly, M. P., Rader, D. J., Morgan, T., Spertus, J. A., Stoll, M., Girelli, D., McKeown, P. P., Patterson, C. C., Siscovick, D. S. & 100 others, O'Donnell, C. J., Elosua, R., Peltonen, L., Salomaa, V., Schwartz, S. M., Melander, O., Altshuler, D., Merlini, P. A., Berzuini, C., Bernardinelli, L., Peyvandi, F., Tubaro, M., Celli, P., Ferrario, M., Fetiveau, R., Marziliano, N., Casari, G., Galli, M., Ribichini, F., Rossi, M., Bernardi, F., Zonzin, P., Piazza, A., Yee, J., Friedlander, Y., Marrugat, J., Lucas, G., Subirana, I., Sala, J., Ramos, R., Meigs, J. B., Williams, G., Nathan, D. M., MacRae, C. A., Havulinna, A. S., Berglund, G., Hirschhorn, J. N., Asselta, R., Duga, S., Spreafico, M., Daly, M. J., Nemesh, J., Korn, J. M., McCarroll, S. A., Surti, A., Guiducci, C., Gianniny, L., Mirel, D., Parkin, M., Burtt, N., Gabriel, S. B., Thompson, J. R., Braund, P. S., Wright, B. J., Balmforth, A. J., Ball, S. G., Hall, A. S., Linsel-Nitschke, P., Lieb, W., Ziegler, A., König, I. R., Hengstenberg, C., Fischer, M., Stark, K., Grosshennig, A., Preuss, M., Wichmann, H. E., Schreiber, S., Ouwehand, W., Deloukas, P., Scholz, M., Cambien, F., Cardiogenics, N. V., Li, M., Chen, Z., Wilensky, R., Matthai, W., Qasim, A., Hakonarson, H. H., Devaney, J., Burnett, M. S., Pichard, A. D., Kent, K. M., Satler, L., Lindsay, J. M., Waksman, R., Epstein, S. E., Scheffold, T., Berger, K., Huge, A., Martinelli, N., Olivieri, O., Corrocher, R., Hólm, H., Thorleifsson, G., Thorsteinsdottir, U., Stefansson, K., Do, R., Xie, C. & Siscovick, D., 2009, In: Nature Genetics. 41, 3, p. 334-341 8 p.

    Research output: Contribution to journalArticlepeer-review