Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome : Evidence for myelin basic protein haploinsufficiency von GAY, C. T, HARDIES, L. J, SCHIFF, J. M, KAYE, C. I, LEACH, R. J, FOX, P. T, RAUCH, R. A, LANCASTER, J. L, PLAETKE, R, DUPONT, B. R, CODY, J. D, CORNELL, J. E, HERNDON, R. C, GHIDONI, P. D

Volltext

Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q von Cody, Jannine D., Davis Ghidoni, Patricia, DuPont, Barbara R., Hale, Daniel E., Hilsenbeck, Susan G., Stratton, Robert F., Hoffman, Douglas S., Muller, Shaine, Schaub, Rebecca L., Leach, Robin J., Kaye, Celia I.

Volltext

Preferential loss of the paternal alleles in the 18q- syndrome von Cody, Jannine D., Pierce, Jessica F., Brkanac, Zoran, Plaetke, Rosemarie, Ghidoni, Patricia D., Kaye, Celia I., Leach, Robin J.

Volltext

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11) von Walter, Christi A., Shaffer, Lisa G., Kaye, Celia I., Huff, Robert W., Ghidoni, Patricia D., McCaskill, Christopher, McFarland, Melinda B., Moore, Charleen M.

Volltext

Growth hormone deficiency associated in the 18q deletion syndrome von Ghidoni, Patricia Davis, Hale, Daniel E., Cody, Jannine D., Gay, Charles T., Thompson, Nora M., McClure, Erin B., Danney, Mark M., Leach, Robin J., Kaye, Celia I.

Volltext

Growth hormone benefits children with 18q deletions von Cody, Jannine D., Semrud-Clikeman, Margaret, Hardies, L. Jean, Lancaster, Jack, Ghidoni, Patricia D., Schaub, Rebecca L., Thompson, Nora M., Wells, Lynda, Cornell, John E., Love, Tanzy M., Fox, Peter T., Leach, Robin J., Kaye, Celia I., Hale, Daniel E.

Volltext

Microglia convert aggregated amyloid-β into neurotoxic forms through the shedding of microvesicles von Joshi, P, Turola, E, Ruiz, A, Bergami, A, Libera, D D, Benussi, L, Giussani, P, Magnani, G, Comi, G, Legname, G, Ghidoni, R, Furlan, R, Matteoli, M, Verderio, C

Volltext

Long QT Syndrome–Associated Mutations in Intrauterine Fetal Death von Crotti, Lia, Tester, David J, White, Wendy M, Bartos, Daniel C, Insolia, Roberto, Besana, Alessandra, Kunic, Jennifer D, Will, Melissa L, Velasco, Ellyn J, Bair, Jennifer J, Ghidoni, Alice, Cetin, Irene, Van Dyke, Daniel L, Wick, Myra J, Brost, Brian, Delisle, Brian P, Facchinetti, Fabio, George, Alfred L, Schwartz, Peter J, Ackerman, Michael J

Volltext

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference von Young, Alexandra L, Marinescu, Razvan V, Oxtoby, Neil P, Bocchetta, Martina, Yong, Keir, Firth, Nicholas C, Cash, David M, Thomas, David L, Dick, Katrina M, Cardoso, Jorge, van Swieten, John, Borroni, Barbara, Galimberti, Daniela, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B, Graff, Caroline, Tagliavini, Fabrizio, Frisoni, Giovanni B, Laforce, Robert, Finger, Elizabeth, de Mendonça, Alexandre, Sorbi, Sandro, Warren, Jason D, Crutch, Sebastian, Fox, Nick C, Ourselin, Sebastien, Schott, Jonathan M, Rohrer, Jonathan D, Alexander, Daniel C

Volltext

CXCR4 involvement in neurodegenerative diseases von Bonham, Luke W., Karch, Celeste M., Fan, Chun C., Tan, Chin, Geier, Ethan G., Wang, Yunpeng, Wen, Natalie, Broce, Iris J., Li, Yi, Barkovich, Matthew J., Ferrari, Raffaele, Hardy, John, Momeni, Parastoo, Höglinger, Günter, Müller, Ulrich, Hess, Christopher P., Sugrue, Leo P., Dillon, William P., Schellenberg, Gerard D., Miller, Bruce L., Andreassen, Ole A., Dale, Anders M., Barkovich, A. James, Yokoyama, Jennifer S., Desikan, Rahul S.

Volltext

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies von Broce, Iris, Karch, Celeste M, Wen, Natalie, Fan, Chun C, Wang, Yunpeng, Tan, Chin Hong, Kouri, Naomi, Ross, Owen A, Höglinger, Günter U, Muller, Ulrich, Hardy, John, Momeni, Parastoo, Hess, Christopher P, Dillon, William P, Miller, Zachary A, Bonham, Luke W, Rabinovici, Gil D, Rosen, Howard J, Schellenberg, Gerard D, Franke, Andre, Karlsen, Tom H, Veldink, Jan H, Ferrari, Raffaele, Yokoyama, Jennifer S, Miller, Bruce L, Andreassen, Ole A, Dale, Anders M, Desikan, Rahul S, Sugrue, Leo P

Volltext

Anti-IL5 Therapies for Severe Eosinophilic Asthma: Literature Review and Practical Insights von Menzella, Francesco, Ruggiero, Patrizia, Ghidoni, Giulia, Fontana, Matteo, Bagnasco, Diego, Livrieri, Francesco, Scelfo, Chiara, Facciolongo, Nicola

Volltext

Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes von Malpetti, Maura, Jones, P. Simon, Tsvetanov, Kamen A., Rittman, Timothy, Swieten, John C., Borroni, Barbara, Sanchez‐Valle, Raquel, Moreno, Fermin, Laforce, Robert, Graff, Caroline, Synofzik, Matthis, Galimberti, Daniela, Masellis, Mario, Tartaglia, Maria Carmela, Finger, Elizabeth, Vandenberghe, Rik, Mendonça, Alexandre, Tagliavini, Fabrizio, Santana, Isabel, Ducharme, Simon, Butler, Chris R., Gerhard, Alexander, Levin, Johannes, Danek, Adrian, Otto, Markus, Frisoni, Giovanni B., Ghidoni, Roberta, Sorbi, Sandro, Heller, Carolin, Todd, Emily G., Bocchetta, Martina, Cash, David M., Convery, Rhian S., Peakman, Georgia, Moore, Katrina M., Rohrer, Jonathan D., Kievit, Rogier A., Rowe, James B., (GENFI), Genetic FTD Initiative

Volltext

Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia von Mishra, Aniket, Ferrari, Raffaele, Heutink, Peter, Hardy, John, Pijnenburg, Yolande, Posthuma, Danielle

Volltext

Inappropriate prescription of allopurinol and febuxostat and risk of adverse events in the elderly: results from the REPOSI registry von Pasina, L., Brucato, A. L., Djade, C. D., Di Corato, P., Ghidoni, S., Tettamanti, M., Franchi, C., Salerno, F., Corrao, S., Marengoni, A., Marcucci, M., Mannucci, P. M., Nobili, A.

Volltext

Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration von Tavares, TP, Mitchell, DGV, Coleman, KKL, Coleman, BL, Shoesmith, CL, Butler, CR, Santana, I, Danek, A, Gerhard, A, de, Mendonca A

Volltext

Ventricular volume expansion in presymptomatic genetic frontotemporal dementia von Tavares, Tamara P, Mitchell, Derek G.V, Coleman, Kristy, Shoesmith, Christen, Bartha, Robert, Cash, David M, Moore, Katrina M, van Swieten, John, Borroni, Barbara, Galimberti, Daniela, Tartaglia, Maria Carmela, Rowe, James, Graff, Caroline, Tagliavini, Fabrizio, Frisoni, Giovanni, Cappa, Stefano, Laforce, Robert, de Mendonça, Alexandre, Sorbi, Sandro, Wallstrom, Garrick, Masellis, Mario, Rohrer, Jonathan D, Finger, Elizabeth C

Volltext

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers von FINCH, N, CARRASQUILLO, M. M, CROOK, J, FINGER, E, HANTANPAA, K. J, KARYDAS, A. M, SENGDY, P, GONZALEZ, J, SEELEY, W. W, JOHNSON, N, BEACH, T. G, MESULAM, M, BAKER, M, FORLONI, G, KERTESZ, A, KNOPMAN, D. S, UITTI, R, WHITE, C. L, CASELLI, R, LIPPA, C, BIGIO, E. H, WSZOLEK, Z. K, BINETTI, G, RUTHERFORD, N. J, MACKENZIE, I. R, MILLER, B. L, BOEVE, B. F, YOUNKIN, S. G, DICKSON, D. W, PETERSEN, R. C, GRAFF-RADFORD, N. R, GESCHWIND, D. H, RADEMAKERS, R, COPPOLA, G, DEJESUS-HERNANDEZ, M, CROOK, R, HUNTER, T, GHIDONI, R, BENUSSI, L

Volltext

Comparison of arterial spin labeling registration strategies in the multi‐center GENetic frontotemporal dementia initiative (GENFI) von Mutsaerts, Henri J.M.M., Petr, Jan, Thomas, David L., De Vita, Enrico, Cash, David M., van Osch, Matthias J.P., Golay, Xavier, Groot, Paul F.C., Ourselin, Sebastien, van Swieten, John, Laforce, Robert, Tagliavini, Fabrizio, Borroni, Barbara, Galimberti, Daniela, Rowe, James B., Graff, Caroline, Pizzini, Francesca B., Finger, Elizabeth, Sorbi, Sandro, Castelo Branco, Miguel, Rohrer, Jonathan D., Masellis, Mario, MacIntosh, Bradley J., Rossor, Martin, Fox, Nick, Warren, Jason, Bocchetta, Martina, Dick, Katrina, Pievani, Michela, Ghidoni, Roberta, Benussi, Luisa, Padovani, Alessandro, Cosseddu, Maura, Mendonça, Alexandre, Frisoni, Giovanni, Premi, Enrico, Archetti, Silvana, Scarpini, Elio, Fumagalli, Giorgio, Arighi, Andrea, Fenoglio, Chiara, Prioni, Sara, Redaelii, Veronica, Grisoli, Marina, Tiraboschi, Pietro, Black, Sandra, Rogaeva, Ekaterina, Freedman, Morris, Tartaglia, Maria Carmela, Tang‐Wai, David, Keren, Ron, Panman, Jessica, Meeter, Lieke, Jiskoot, Lize, van Minkelen, Rick, Lombardi, Gemma, Polito, Cristina, Nacmias, Benedetta, Jelic, Vesna, Andersson, Christin, Öijerstedt, Linn, Fallström, Marie, Thonberg, Hakan, Verdelho, Ana, Maruta, Carolina

Volltext

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia von Manzoni, Claudia, Kia, Demis A., Leonenko, Ganna, Costa, Beatrice, Saba, Valentina, Jabbari, Edwin, Tan, Manuela MX, Albani, Diego, Alvarez, Victoria, Andreassen, Ole A., Angiolillo, Antonella, Arighi, Andrea, Baker, Matt, Benussi, Luisa, Bessi, Valentina, Binetti, Giuliano, Boada, Merce, Boeve, Bradley F., Borrego-Ecija, Sergi, Borroni, Barbara, Bråthen, Geir, Bruni, Amalia C., Caroppo, Paola, Bandres-Ciga, Sara, Clarimon, Jordi, Danek, Adrian, de Boer, Sterre CM, de Rojas, Itziar, Dickson, Dennis W., Donizetti, Aldo, Dopper, Elise, Ferrari, Camilla, Forloni, Gianluigi, Frangipane, Francesca, Gallucci, Maurizio, García-González, Pablo, Ghidoni, Roberta, Graff, Caroline, Graff-Radford, Neill R., Grafman, Jordan, Halliday, Glenda M., Hernandez, Dena G., Hjermind, Lena E., Hodges, John R., Holloway, Guy, Huey, Edward D., Illán-Gala, Ignacio, Josephs, Keith A., Knopman, David S., Kristiansen, Mark, Libri, Ilenia, Lleo, Alberto, Mackenzie, Ian R., Madhan, Gaganjit K., Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce L., Morris, Christopher M., Morris, Huw R., Newton, Judith, Pal, Suvankar, Pasquier, Florence, Perneczky, Robert, Peterlin, Borut, Piguet, Olivier, Puca, Annibale A., Rademakers, Rosa, Rainero, Innocenzo, Reus, Lianne M., Richardson, Anna MT, Riemenschneider, Matthias, Rogaeva, Ekaterina, Rogelj, Boris, Rollinson, Sara, Rossi, Giacomina, Rowe, James B., Rubino, Elisa, Ruiz, Agustin, Salvi, Erika, Sanchez-Valle, Raquel, Santillo, Alexander F., Saxon, Jennifer A., Schlachetzki, Johannes CM, Scholz, Sonja W., Seelaar, Harro, Seeley, William W., Serpente, Maria, Sorbi, Sandro, St George-Hyslop, Peter, Thompson, Jennifer C., Van Broeckhoven, Christine, Van Deerlin, Vivianna M., Tagliavini, Fabrizio, van der Zee, Julie, Veronesi, Arianna, Vitale, Emilia, Yokoyama, Jennifer S., Nalls, Mike A., Singleton, Andrew B., Hardy, John

Volltext