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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

JAMA neurology

Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E.
PMID: 34459874
JAMA Neurol. 2021 Oct 01;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.

IMPORTANCE: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.OBJECTIVE: To identify the genetic variants associated with juvenile ALS.DESIGN, SETTING, AND PARTICIPANTS: In...

Cite
Johnson JO, Chia R, Miller DE, et al. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol. 2021;78(10):1236-1248doi: 10.1001/jamaneurol.2021.2598.
Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S. D., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Troakes, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., van Rheenen, W., Rademakers, R., van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Williams, K. L., Nicholson, G. A., Blair, I. P., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Morrison, K. E., Veldink, J. H., van den Berg, L. H., Al-Chalabi, A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Silani, V., Shaw, C. E., Landers, J. E., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M., Abramzon, Y., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Chia, R., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., MacGowan, D. J. L., Maragakis, N. J., Mora, G., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Shaw, P. J., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Tienari, P. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Landers, J. E., Chiò, A., Traynor, B. J., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Calvo, A., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Chiò, A., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., DeMarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Lauria, G., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mora, G., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M., & Zucchi, E. (2021). Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA neurology, 78(10), 1236-1248. https://doi.org/10.1001/jamaneurol.2021.2598
Johnson, Janel O, et al. "Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis." JAMA neurology vol. 78,10 (2021): 1236-1248. doi: https://doi.org/10.1001/jamaneurol.2021.2598
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol. 2021 Oct 01;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. PMID: 34459874; PMCID: PMC8406220.
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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

JAMA neurology

Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E.
PMID: 34459874
JAMA Neurol. 2021 Oct 01;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.

IMPORTANCE: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.OBJECTIVE: To identify the genetic variants associated with juvenile ALS.DESIGN, SETTING, AND PARTICIPANTS: In...

Cite
Johnson JO, Chia R, Miller DE, et al. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol. 2021;78(10):1236-1248doi: 10.1001/jamaneurol.2021.2598.
Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S. D., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Troakes, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., van Rheenen, W., Rademakers, R., van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Williams, K. L., Nicholson, G. A., Blair, I. P., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Morrison, K. E., Veldink, J. H., van den Berg, L. H., Al-Chalabi, A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Silani, V., Shaw, C. E., Landers, J. E., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M., Abramzon, Y., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Chia, R., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., MacGowan, D. J. L., Maragakis, N. J., Mora, G., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Shaw, P. J., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Tienari, P. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Landers, J. E., Chiò, A., Traynor, B. J., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Calvo, A., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Chiò, A., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., DeMarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Lauria, G., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mora, G., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M., & Zucchi, E. (2021). Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA neurology, 78(10), 1236-1248. https://doi.org/10.1001/jamaneurol.2021.2598
Johnson, Janel O, et al. "Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis." JAMA neurology vol. 78,10 (2021): 1236-1248. doi: https://doi.org/10.1001/jamaneurol.2021.2598
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol. 2021 Oct 01;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. PMID: 34459874; PMCID: PMC8406220.
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Cardiac resynchronization therapy defibrillators in patients with permanent atrial fibrillation.

ESC heart failure

Rapacciuolo A, Iacopino S, D'Onofrio A, Curnis A, Pisanò EC, Biffi M, Della Bella P, Dello Russo A, Caravati F, Zanotto G, Calvi V, Rovaris G, Senatore G, Nicolis D, Santamaria M, Giammaria M, Maglia G, Duca A, Ammirati G, Romano SA, Piacenti M, Celentano E, Bisignani G, Vaccaro P, Miracapillo G, Bertini M, Nigro G, Giacopelli D, Gargaro A, Bisceglia C.
PMID: 34514741
ESC Heart Fail. 2021 Dec;8(6):5204-5212. doi: 10.1002/ehf2.13599. Epub 2021 Sep 12.

AIMS: There are conflicting data on the benefit of cardiac resynchronization therapy (CRT) in heart failure (HF) patients with permanent atrial fibrillation (AF). We aimed to compare patient outcomes according to the presence or absence of permanent AF at...

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Rapacciuolo A, Iacopino S, D'Onofrio A, et al. Cardiac resynchronization therapy defibrillators in patients with permanent atrial fibrillation. ESC Heart Fail. 2021;8(6):5204-5212doi: 10.1002/ehf2.13599.
Rapacciuolo, A., Iacopino, S., D'Onofrio, A., Curnis, A., Pisanò, E. C., Biffi, M., Della Bella, P., Dello Russo, A., Caravati, F., Zanotto, G., Calvi, V., Rovaris, G., Senatore, G., Nicolis, D., Santamaria, M., Giammaria, M., Maglia, G., Duca, A., Ammirati, G., Romano, S. A., Piacenti, M., Celentano, E., Bisignani, G., Vaccaro, P., Miracapillo, G., Bertini, M., Nigro, G., Giacopelli, D., Gargaro, A., & Bisceglia, C. (2021). Cardiac resynchronization therapy defibrillators in patients with permanent atrial fibrillation. ESC heart failure, 8(6), 5204-5212. https://doi.org/10.1002/ehf2.13599
Rapacciuolo, Antonio, et al. "Cardiac resynchronization therapy defibrillators in patients with permanent atrial fibrillation." ESC heart failure vol. 8,6 (2021): 5204-5212. doi: https://doi.org/10.1002/ehf2.13599
Rapacciuolo A, Iacopino S, D'Onofrio A, Curnis A, Pisanò EC, Biffi M, Della Bella P, Dello Russo A, Caravati F, Zanotto G, Calvi V, Rovaris G, Senatore G, Nicolis D, Santamaria M, Giammaria M, Maglia G, Duca A, Ammirati G, Romano SA, Piacenti M, Celentano E, Bisignani G, Vaccaro P, Miracapillo G, Bertini M, Nigro G, Giacopelli D, Gargaro A, Bisceglia C. Cardiac resynchronization therapy defibrillators in patients with permanent atrial fibrillation. ESC Heart Fail. 2021 Dec;8(6):5204-5212. doi: 10.1002/ehf2.13599. Epub 2021 Sep 12. PMID: 34514741.
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Landing on the spot: Approaches to outflow tract PVCs; from ECG to EGMs to intracardiac echocardiography.

Pacing and clinical electrophysiology : PACE

Hadjis A, Frontera A, Limite LR, Lipartiti F, Tsitsinakis G, Vlachos K, Becker G, Sturmer M, Jaïs P, Hsia H, Gerstenfeld E, Della Bella P.
PMID: 34081333
Pacing Clin Electrophysiol. 2021 Aug;44(8):1449-1463. doi: 10.1111/pace.14290. Epub 2021 Jun 20.

Premature ventricular complexes (PVCs) are increasingly recognized, as the use of ECG wearables becomes more widespread. In particular, PVCs arising from both the right ventricular outflow tract (RVOT) and left ventricular outflow tract (LVOT) comprise the majority of these...

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Hadjis A, Frontera A, Limite LR, et al. Landing on the spot: Approaches to outflow tract PVCs; from ECG to EGMs to intracardiac echocardiography. Pacing Clin Electrophysiol. 2021;44(8):1449-1463doi: 10.1111/pace.14290.
Hadjis, A., Frontera, A., Limite, L. R., Lipartiti, F., Tsitsinakis, G., Vlachos, K., Becker, G., Sturmer, M., Jaïs, P., Hsia, H., Gerstenfeld, E., & Della Bella, P. (2021). Landing on the spot: Approaches to outflow tract PVCs; from ECG to EGMs to intracardiac echocardiography. Pacing and clinical electrophysiology : PACE, 44(8), 1449-1463. https://doi.org/10.1111/pace.14290
Hadjis, Alexios, et al. "Landing on the spot: Approaches to outflow tract PVCs; from ECG to EGMs to intracardiac echocardiography." Pacing and clinical electrophysiology : PACE vol. 44,8 (2021): 1449-1463. doi: https://doi.org/10.1111/pace.14290
Hadjis A, Frontera A, Limite LR, Lipartiti F, Tsitsinakis G, Vlachos K, Becker G, Sturmer M, Jaïs P, Hsia H, Gerstenfeld E, Della Bella P. Landing on the spot: Approaches to outflow tract PVCs; from ECG to EGMs to intracardiac echocardiography. Pacing Clin Electrophysiol. 2021 Aug;44(8):1449-1463. doi: 10.1111/pace.14290. Epub 2021 Jun 20. PMID: 34081333.
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Right ventricular endomyocardial biopsy in patients with cardiac magnetic resonance showing left ventricular myocarditis.

Journal of cardiovascular medicine (Hagerstown, Md.)

Peretto G, Cappelletti AM, Spoladore R, Slavich M, Rizzo S, Palmisano A, Esposito A, De Cobelli F, Margonato A, Basso C, Della Bella P, Sala S.
PMID: 34076604
J Cardiovasc Med (Hagerstown). 2021 Jul 01;22(7):560-566. doi: 10.2459/JCM.0000000000001162.

AIMS: The aim of this study was to evaluate the sensitivity of right ventricular endomyocardial biopsy (EMB) in myocarditis patients with cardiac magnetic resonance (CMR) and electroanatomical mapping (EAM) showing left ventricular abnormalities.METHODS: We performed right ventricular EMB in...

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Peretto G, Cappelletti AM, Spoladore R, et al. Right ventricular endomyocardial biopsy in patients with cardiac magnetic resonance showing left ventricular myocarditis. J Cardiovasc Med (Hagerstown). 2021;22(7):560-566doi: 10.2459/JCM.0000000000001162.
Peretto, G., Cappelletti, A. M., Spoladore, R., Slavich, M., Rizzo, S., Palmisano, A., Esposito, A., De Cobelli, F., Margonato, A., Basso, C., Della Bella, P., & Sala, S. (2021). Right ventricular endomyocardial biopsy in patients with cardiac magnetic resonance showing left ventricular myocarditis. Journal of cardiovascular medicine (Hagerstown, Md.), 22(7), 560-566. https://doi.org/10.2459/JCM.0000000000001162
Peretto, Giovanni, et al. "Right ventricular endomyocardial biopsy in patients with cardiac magnetic resonance showing left ventricular myocarditis." Journal of cardiovascular medicine (Hagerstown, Md.) vol. 22,7 (2021): 560-566. doi: https://doi.org/10.2459/JCM.0000000000001162
Peretto G, Cappelletti AM, Spoladore R, Slavich M, Rizzo S, Palmisano A, Esposito A, De Cobelli F, Margonato A, Basso C, Della Bella P, Sala S. Right ventricular endomyocardial biopsy in patients with cardiac magnetic resonance showing left ventricular myocarditis. J Cardiovasc Med (Hagerstown). 2021 Jul 01;22(7):560-566. doi: 10.2459/JCM.0000000000001162. PMID: 34076604.
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A multicenter prospective randomized controlled trial of cardiac resynchronization therapy guided by invasive dP/dt.

Heart rhythm O2

Sohal M, Hamid S, Perego G, Della Bella P, Adhya S, Paisey J, Betts T, Kamdar R, Lambiase P, Leyva F, McComb JM, Behar J, Jackson T, Claridge S, Mehta V, Elliott M, Niederer S, Razavi R, Rinaldi CA.
PMID: 34113901
Heart Rhythm O2. 2021 Jan 22;2(1):19-27. doi: 10.1016/j.hroo.2021.01.005. eCollection 2021 Feb.

BACKGROUND: No periprocedural metric has demonstrated improved cardiac resynchronization therapy (CRT) outcomes in a multicenter setting.OBJECTIVE: We sought to determine if left ventricular (LV) lead placement targeted to the coronary sinus (CS) branch generating the best acute hemodynamic response...

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Sohal M, Hamid S, Perego G, et al. A multicenter prospective randomized controlled trial of cardiac resynchronization therapy guided by invasive dP/dt. Heart Rhythm O2. 2021;2(1):19-27doi: 10.1016/j.hroo.2021.01.005.
Sohal, M., Hamid, S., Perego, G., Della Bella, P., Adhya, S., Paisey, J., Betts, T., Kamdar, R., Lambiase, P., Leyva, F., McComb, J. M., Behar, J., Jackson, T., Claridge, S., Mehta, V., Elliott, M., Niederer, S., Razavi, R., & Rinaldi, C. A. (2021). A multicenter prospective randomized controlled trial of cardiac resynchronization therapy guided by invasive dP/dt. Heart rhythm O2, 2(1), 19-27. https://doi.org/10.1016/j.hroo.2021.01.005
Sohal, Manav, et al. "A multicenter prospective randomized controlled trial of cardiac resynchronization therapy guided by invasive dP/dt." Heart rhythm O2 vol. 2,1 (2021): 19-27. doi: https://doi.org/10.1016/j.hroo.2021.01.005
Sohal M, Hamid S, Perego G, Della Bella P, Adhya S, Paisey J, Betts T, Kamdar R, Lambiase P, Leyva F, McComb JM, Behar J, Jackson T, Claridge S, Mehta V, Elliott M, Niederer S, Razavi R, Rinaldi CA. A multicenter prospective randomized controlled trial of cardiac resynchronization therapy guided by invasive dP/dt. Heart Rhythm O2. 2021 Jan 22;2(1):19-27. doi: 10.1016/j.hroo.2021.01.005. eCollection 2021 Feb. PMID: 34113901; PMCID: PMC8183864.
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Check the Need-Prevalence and Outcome after Transvenous Cardiac Implantable Electric Device Extraction without Reimplantation.

Journal of clinical medicine

D'Angelo G, Zweiker D, Fierro N, Marzi A, Paglino G, Gulletta S, Matta M, Melillo F, Bisceglia C, Limite LR, Cireddu M, Vergara P, Bosica F, Falasconi G, Pannone L, Brugliera L, Oloriz T, Sala S, Radinovic A, Baratto F, Malatino L, Peretto G, Nakajima K, Spartalis MD, Frontera A, Della Bella P, Mazzone P.
PMID: 34575152
J Clin Med. 2021 Sep 07;10(18). doi: 10.3390/jcm10184043.

BACKGROUND: after transvenous lead extraction (TLE) of cardiac implantable electric devices (CIEDs), some patients may not benefit from device reimplantation. This study sought to analyse predictors and long-term outcome of patients after TLE with vs. without reimplantation in a...

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D'Angelo G, Zweiker D, Fierro N, et al. Check the Need-Prevalence and Outcome after Transvenous Cardiac Implantable Electric Device Extraction without Reimplantation. J Clin Med. 2021;10(18)doi: 10.3390/jcm10184043.
D'Angelo, G., Zweiker, D., Fierro, N., Marzi, A., Paglino, G., Gulletta, S., Matta, M., Melillo, F., Bisceglia, C., Limite, L. R., Cireddu, M., Vergara, P., Bosica, F., Falasconi, G., Pannone, L., Brugliera, L., Oloriz, T., Sala, S., Radinovic, A., Baratto, F., Malatino, L., Peretto, G., Nakajima, K., Spartalis, M. D., Frontera, A., Della Bella, P., & Mazzone, P. (2021). Check the Need-Prevalence and Outcome after Transvenous Cardiac Implantable Electric Device Extraction without Reimplantation. Journal of clinical medicine, 10(18), . https://doi.org/10.3390/jcm10184043
D'Angelo, Giuseppe, et al. "Check the Need-Prevalence and Outcome after Transvenous Cardiac Implantable Electric Device Extraction without Reimplantation." Journal of clinical medicine vol. 10,18 (2021). doi: https://doi.org/10.3390/jcm10184043
D'Angelo G, Zweiker D, Fierro N, Marzi A, Paglino G, Gulletta S, Matta M, Melillo F, Bisceglia C, Limite LR, Cireddu M, Vergara P, Bosica F, Falasconi G, Pannone L, Brugliera L, Oloriz T, Sala S, Radinovic A, Baratto F, Malatino L, Peretto G, Nakajima K, Spartalis MD, Frontera A, Della Bella P, Mazzone P. Check the Need-Prevalence and Outcome after Transvenous Cardiac Implantable Electric Device Extraction without Reimplantation. J Clin Med. 2021 Sep 07;10(18). doi: 10.3390/jcm10184043. PMID: 34575152; PMCID: PMC8467543.
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Severity of respiratory failure and outcome of patients needing a ventilatory support in the Emergency Department during Italian novel coronavirus SARS-CoV2 outbreak: Preliminary data on the role of Helmet CPAP and Non-Invasive Positive Pressure Ventilation.

EClinicalMedicine

Duca A, Memaj I, Zanardi F, Preti C, Alesi A, Della Bella L, Ghezzi E, Di Marco F, Lorini FL, Venturelli S, Fagiuoli S, Cosentini R.
PMID: 32766538
EClinicalMedicine. 2020 Jun 18;24:100419. doi: 10.1016/j.eclinm.2020.100419. eCollection 2020 Jul.

BACKGROUND: Novel Coronavirus SARS-CoV-2 pandemic is spreading around the world. At the end of February, the outburst of the pandemic has hit hard on northern Italian's hospitals. As of today, no data have been published regarding the severity of...

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Duca A, Memaj I, Zanardi F, et al. Severity of respiratory failure and outcome of patients needing a ventilatory support in the Emergency Department during Italian novel coronavirus SARS-CoV2 outbreak: Preliminary data on the role of Helmet CPAP and Non-Invasive Positive Pressure Ventilation. EClinicalMedicine. 2020;24:100419doi: 10.1016/j.eclinm.2020.100419.
Duca, A., Memaj, I., Zanardi, F., Preti, C., Alesi, A., Della Bella, L., Ghezzi, E., Di Marco, F., Lorini, F. L., Venturelli, S., Fagiuoli, S., & Cosentini, R. (2020). Severity of respiratory failure and outcome of patients needing a ventilatory support in the Emergency Department during Italian novel coronavirus SARS-CoV2 outbreak: Preliminary data on the role of Helmet CPAP and Non-Invasive Positive Pressure Ventilation. EClinicalMedicine, 24100419. https://doi.org/10.1016/j.eclinm.2020.100419
Duca, Andrea, et al. "Severity of respiratory failure and outcome of patients needing a ventilatory support in the Emergency Department during Italian novel coronavirus SARS-CoV2 outbreak: Preliminary data on the role of Helmet CPAP and Non-Invasive Positive Pressure Ventilation." EClinicalMedicine vol. 24 (2020): 100419. doi: https://doi.org/10.1016/j.eclinm.2020.100419
Duca A, Memaj I, Zanardi F, Preti C, Alesi A, Della Bella L, Ghezzi E, Di Marco F, Lorini FL, Venturelli S, Fagiuoli S, Cosentini R. Severity of respiratory failure and outcome of patients needing a ventilatory support in the Emergency Department during Italian novel coronavirus SARS-CoV2 outbreak: Preliminary data on the role of Helmet CPAP and Non-Invasive Positive Pressure Ventilation. EClinicalMedicine. 2020 Jun 18;24:100419. doi: 10.1016/j.eclinm.2020.100419. eCollection 2020 Jul. PMID: 32766538; PMCID: PMC7301102.
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Quality control methods in musculoskeletal tissue engineering: from imaging to biosensors.

Bone research

Zuncheddu D, Della Bella E, Schwab A, Petta D, Rocchitta G, Generelli S, Kurth F, Parrilli A, Verrier S, Rau JV, Fosca M, Maioli M, Serra PA, Alini M, Redl H, Grad S, Basoli V.
PMID: 34707086
Bone Res. 2021 Oct 27;9(1):46. doi: 10.1038/s41413-021-00167-9.

Tissue engineering is rapidly progressing toward clinical application. In the musculoskeletal field, there has been an increasing necessity for bone and cartilage replacement. Despite the promising translational potential of tissue engineering approaches, careful attention should be given to the...

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Zuncheddu D, Della Bella E, Schwab A, et al. Quality control methods in musculoskeletal tissue engineering: from imaging to biosensors. Bone Res. 2021;9(1):46doi: 10.1038/s41413-021-00167-9.
Zuncheddu, D., Della Bella, E., Schwab, A., Petta, D., Rocchitta, G., Generelli, S., Kurth, F., Parrilli, A., Verrier, S., Rau, J. V., Fosca, M., Maioli, M., Serra, P. A., Alini, M., Redl, H., Grad, S., & Basoli, V. (2021). Quality control methods in musculoskeletal tissue engineering: from imaging to biosensors. Bone research, 9(1), 46. https://doi.org/10.1038/s41413-021-00167-9
Zuncheddu, Daniele, et al. "Quality control methods in musculoskeletal tissue engineering: from imaging to biosensors." Bone research vol. 9,1 (2021): 46. doi: https://doi.org/10.1038/s41413-021-00167-9
Zuncheddu D, Della Bella E, Schwab A, Petta D, Rocchitta G, Generelli S, Kurth F, Parrilli A, Verrier S, Rau JV, Fosca M, Maioli M, Serra PA, Alini M, Redl H, Grad S, Basoli V. Quality control methods in musculoskeletal tissue engineering: from imaging to biosensors. Bone Res. 2021 Oct 27;9(1):46. doi: 10.1038/s41413-021-00167-9. PMID: 34707086; PMCID: PMC8551153.
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A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly.

Cell death and differentiation

Capitani N, Onnis A, Finetti F, Cassioli C, Plebani A, Brunetti J, Troilo A, D'Elios S, Baronio M, Gazzurelli L, Della Bella C, Billadeau DD, D'Elios MM, Lougaris V, Baldari CT.
PMID: 34294890
Cell Death Differ. 2021 Jul 22; doi: 10.1038/s41418-021-00837-5. Epub 2021 Jul 22.

Ciliogenesis proteins orchestrate vesicular trafficking pathways that regulate immune synapse (IS) assembly in the non-ciliated T-cells. We hypothesized that ciliogenesis-related genes might be disease candidates for common variable immunodeficiency with impaired T-cell function (T-CVID). We identified a heterozygous, predicted...

Cite
Capitani N, Onnis A, Finetti F, et al. A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. Cell Death Differ. 2021;doi: 10.1038/s41418-021-00837-5.
Capitani, N., Onnis, A., Finetti, F., Cassioli, C., Plebani, A., Brunetti, J., Troilo, A., D'Elios, S., Baronio, M., Gazzurelli, L., Della Bella, C., Billadeau, D. D., D'Elios, M. M., Lougaris, V., & Baldari, C. T. (2021). A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. Cell death and differentiation, . https://doi.org/10.1038/s41418-021-00837-5
Capitani, Nagaja, et al. "A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly." Cell death and differentiation vol. (2021). doi: https://doi.org/10.1038/s41418-021-00837-5
Capitani N, Onnis A, Finetti F, Cassioli C, Plebani A, Brunetti J, Troilo A, D'Elios S, Baronio M, Gazzurelli L, Della Bella C, Billadeau DD, D'Elios MM, Lougaris V, Baldari CT. A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. Cell Death Differ. 2021 Jul 22; doi: 10.1038/s41418-021-00837-5. Epub 2021 Jul 22. PMID: 34294890.
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A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly.

Cell death and differentiation

Capitani N, Onnis A, Finetti F, Cassioli C, Plebani A, Brunetti J, Troilo A, D'Elios S, Baronio M, Gazzurelli L, Della Bella C, Billadeau DD, D'Elios MM, Lougaris V, Baldari CT.
PMID: 34294890
Cell Death Differ. 2022 Jan;29(1):65-81. doi: 10.1038/s41418-021-00837-5. Epub 2021 Jul 22.

Ciliogenesis proteins orchestrate vesicular trafficking pathways that regulate immune synapse (IS) assembly in the non-ciliated T-cells. We hypothesized that ciliogenesis-related genes might be disease candidates for common variable immunodeficiency with impaired T-cell function (T-CVID). We identified a heterozygous, predicted...

Cite
Capitani N, Onnis A, Finetti F, et al. A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. Cell Death Differ. 2021;29(1):65-81doi: 10.1038/s41418-021-00837-5.
Capitani, N., Onnis, A., Finetti, F., Cassioli, C., Plebani, A., Brunetti, J., Troilo, A., D'Elios, S., Baronio, M., Gazzurelli, L., Della Bella, C., Billadeau, D. D., D'Elios, M. M., Lougaris, V., & Baldari, C. T. (2022). A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. Cell death and differentiation, 29(1), 65-81. https://doi.org/10.1038/s41418-021-00837-5
Capitani, Nagaja, et al. "A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly." Cell death and differentiation vol. 29,1 (2022): 65-81. doi: https://doi.org/10.1038/s41418-021-00837-5
Capitani N, Onnis A, Finetti F, Cassioli C, Plebani A, Brunetti J, Troilo A, D'Elios S, Baronio M, Gazzurelli L, Della Bella C, Billadeau DD, D'Elios MM, Lougaris V, Baldari CT. A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. Cell Death Differ. 2022 Jan;29(1):65-81. doi: 10.1038/s41418-021-00837-5. Epub 2021 Jul 22. PMID: 34294890.
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Ventricular tachycardia catheter ablation in arrhythmogenic right ventricular cardiomyopathy.

HeartRhythm case reports

Frontera A, Della Bella P.
PMID: 31890577
HeartRhythm Case Rep. 2019 Dec 16;5(12):561-569. doi: 10.1016/j.hrcr.2019.07.009. eCollection 2019 Dec.

No abstract available.

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Frontera A, Della Bella P. Ventricular tachycardia catheter ablation in arrhythmogenic right ventricular cardiomyopathy. HeartRhythm Case Rep. 2019;5(12):561-569doi: 10.1016/j.hrcr.2019.07.009.
Frontera, A., & Della Bella, P. (2019). Ventricular tachycardia catheter ablation in arrhythmogenic right ventricular cardiomyopathy. HeartRhythm case reports, 5(12), 561-569. https://doi.org/10.1016/j.hrcr.2019.07.009
Frontera, Antonio, and Della Bella, Paolo. "Ventricular tachycardia catheter ablation in arrhythmogenic right ventricular cardiomyopathy." HeartRhythm case reports vol. 5,12 (2019): 561-569. doi: https://doi.org/10.1016/j.hrcr.2019.07.009
Frontera A, Della Bella P. Ventricular tachycardia catheter ablation in arrhythmogenic right ventricular cardiomyopathy. HeartRhythm Case Rep. 2019 Dec 16;5(12):561-569. doi: 10.1016/j.hrcr.2019.07.009. eCollection 2019 Dec. PMID: 31890577; PMCID: PMC6926257.
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