Results 21 to 30 of about 2,498 (170)
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
Frontiers in Neurology, 2022 Neuronal ceroid lipofuscinoses (NCLs) comprise 13 hereditary neurodegenerative pathologies of very low frequency that affect individuals of all ages around the world. All NCLs share a set of symptoms that are similar to other diseases.Guillermo Guelbert, Guillermo Guelbert, Ana Clara Venier, Ana Clara Venier, Ana Clara Venier, Ines Adriana Cismondi, Ines Adriana Cismondi, Adriana Becerra, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Ana Lucía De Paul, Norberto Guelbert, Norberto Guelbert, Ines Noher, Ines Noher, Favio Pesaola, Favio Pesaola +18 moredoaj +1 more source“Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era [PDF]
, 2021 Fil: Pesaola, Favio. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigación en Ciencias de la Salud; Argentina.Fil: Pesaola, Favio. Universidad Nacional de Córdoba.Guelbert, Norberto Bernardo, De Paul, Ana Lucia, Guelbert, Norberto, Vazquez, Juan Carlos G, Becerra, Adriana, Fernandez, Elmer, Cismondi, Inés Adriana, Guelbert, Guillermo Ariel, Noer, Ines, Venier, Ana Clara, Guelbert, Guillermo, Becerra, Adriana Berónica, Vazquez, Juan Carlos G., Pesaola, Favio, Noher, Inés, Fernandez, Elmer Andres, Pesaola, Favio Nicolas +16 morecore +2 more sourcesExploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia
Scientific Reports, 2021 Frontotemporal dementia (FTD) refers to a complex spectrum of clinically and genetically heterogeneous disorders. Although fully penetrant mutations in several genes have been identified and can explain the pathogenic mechanisms underlying a great ...Celeste Sassi, Rosa Capozzo, Monia Hammer, Chiara Zecca, Monica Federoff, Cornelis Blauwendraat, Nick Bernstein, Jinhui Ding, J. Raphael Gibbs, Timothy Price, Andrew Singleton, Giancarlo Logroscino +11 moredoaj +1 more sourceProgressive retinal degeneration and glial activation in the Cln6nclf mouse model of neuronal ceroid lipofuscinosis : a beneficial effect of DHA and Curcumin supplementation [PDF]
, 2013 Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures.Monica Langiu, Myriam Mirza, Langiu, Monica, Tamm, Ernst R., Mirza, Myriam, Langmann, Thomas, Ernst R. Tamm, Aleksandra Somogyi, Marcus Karlstetter, Mika O. Ruonala, Volz, Cornelia, Jägle, Herbert, Herbert Jägle, Ernst R Tamm, Somogyi, Aleksandra, Cornelia Volz, Thomas Langmann, Mika O Ruonala, Karlstetter, Marcus, Ruonala, Mika O. +19 morecore +2 more sourcesMorphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis [PDF]
, 2011 Mutations in the cathepsin D (CTSD) gene cause an aggressive neurodegenerative disease (congenital neuronal ceroid lipofuscinosis) that leads to early death. Recent evidence suggests that presynaptic abnormalities play a major role in the pathogenesis of Koch, Sabine, Cooper, Jonathan D, Svetlana M. Molchanova, Taira, Tomi, Tyynelä, Jaana, Jonathan D. Cooper, Ann K. Wright, Thomas H. Gillingwater, Sabine Koch, Andrew Edwards, Wright, Ann K, Gillingwater, Thomas H, Molchanova, Svetlana M, Jaana Tyynelä, Edwards, Andrew, Tomi Taira +15 morecore +1 more sourceLarge-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. [PDF]
, 2012 Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death.Boustany, Rose-Mary, Ruether Klaus, Martin Klingenspor, Brown, D., Hölter, S.M., Wheeler, V., Staropoli, J., Schrewe, A., Patricia Da Silva-Buttkus, Dirk H. Busch (125319), Ella Dragileva, Martin Hrabě de Angelis, Wolfgang Wurst (712), Wurst, Wolfgang, Raffi Bekeredjian (160215), Jolene Guide, de Angelis, M., Klingenspor Martin, Klopstock, T., Rathkolb, B., Harati, Hayat, Graw Jochen, Harati Hayat, Breton, Sylvie, Wolf Eckhard, Oliver Puk (160194), Frauke Neff, Calzada-Wack, Julia, Jan Rozman, Hrabé de Angelis, Martin, Larissa Haliw (160166), Calzada-Wack, J., Staropoli, J.F., Anja Schrewe, Cotman, S., Garrett, L., Busch, D. H., Julia Calzada-Wack (160181), Klingenspor, Martin, John F Staropoli, Lillian Garrett (160169), Garrett Lillian, Biswas Sunita, Lopez, E., Sun, M., Favor, J., Rose-Mary Boustany (160261), Gale Evan, Hölter, S., Racz, I., Ildikó Racz (5649520), Hill, Eric, Birgit Rathkolb, Klopstock, Thomas, Fuchs, Helmut, Biswas, Sunita, Eckhard Wolf, Krause, D., Fuchs Helmut, Ruether, Klaus, Thure Adler (125314), Busch, D.H., Cotman, S.L., Krause, D.S., Brown, D.E., Busch, D., Klaus Ruether, Raffi Bekeredjian, Jack Favor, Jan Rozman (149181), Hayat Harati (160240), Racz, Ildikó, Anja Schrewe (160188), Evan Gale (160257), Boustany, R., Biswas, S., Fuchs, H., Neff Frauke, Martin Hrabě de Angelis (2579524), Birgit Rathkolb (39867), Haliw, L., Valérie Gailus-Durner, Dragileva Ella, Lillian Garrett, Da Silva-Buttkus Patricia, Daniela S Krause, Helmut Fuchs, Skosyrski, Sergej, Daniela S. Krause (160249), Hill, E., Staropoli John F., Andreas Zimmer (78836), Boustany Rose-Mary, Favor Jack, Patricia Da Silva-Buttkus (160178), Cotman, Susan L., Breton Sylvie, Krause, D. S., Dragileva, Ella, Andreas Zimmer, Thomas Klopstock (160225), Sun Minxuan, Becker, Lore, Sergej Skosyrski, Helmut Fuchs (39863), Hölter, Sabine M., Klaus Ruether (160274), Brown, Diane E., Zimmer Andreas, Hill Eric, Oliver Puk, Da Silva-Buttkus, P., de Angelis Martin Hrabě, Gailus-Durner Valérie, Wolf, Eckhard, Becker Lore, Larissa Haliw, Gale, Evan, Sylvie Breton (160269), Staropoli, J. F., Minxuan Sun (160200), Evan Gale, Zimmer, Andreas, Hrabě de Angelis, M., Sabine M Hölter, Boustany, R. M., Adler, Thure, de Angelis, M. H., Favor, Jack, Racz Ildikó, Jack Favor (160206), Ildikó Racz, Klopstock Thomas, Hölter, S. M., Wurst, W., Jolene Guide (160252), Guide, Jolene, Sun, Minxuan, Gailus-Durner, Valérie, Wolf, E., Brown, D. E., Becker, L., Lore Becker (160172), Guide Jolene, Neff, F., Eric Hill (160245), Sabine M. Hölter (160170), Vanessa C Wheeler, Skosyrski, S., Cotman Susan L., Lopez Edith, Busch, Dirk H., Sunita Biswas (160168), Staropoli, John F., Garrett, Lillian, Julia Calzada-Wack, Wheeler, V.C., Puk, Oliver, Krause, Daniela S., Sun, M. X., Graw, Jochen, Jochen Graw (47527), Haliw, Larissa, Lore Becker, Valérie Gailus-Durner (125329), Schrewe, Anja, Ella Dragileva (136558), Edith Lopez, Brown Diane E., Bekeredjian, R., Wolfgang Wurst, Hölter Sabine M., Puk Oliver, Neff, Frauke, Da Silva-Buttkus, Patricia, Bekeredjian, Raffi, Puk, O., Thure Adler, Thomas Klopstock, Minxuan Sun, Wheeler Vanessa C., Busch Dirk H., Jochen Graw, Wheeler, Vanessa C., Frauke Neff (160183), Wheeler, V. C., Rathkolb, Birgit, Edith Lopez (160236), Bekeredjian Raffi, Rozman, J., Rozman, Jan, Boustany, R.M., Haliw Larissa, Susan L Cotman, Susan L. Cotman (160284), Ruether, K., Harati, H., Diane E. Brown (160264), Rose-Mary Boustany, Graw, J., Sunita Biswas, Sergej Skosyrski (160175), Schrewe Anja, Dragileva, E., Gailus-Durner, V., Sylvie Breton, Eric Hill, Adler Thure, Skosyrski Sergej, Eckhard Wolf (39870), John F. Staropoli (160164), Dirk H Busch, Wurst Wolfgang, Krause Daniela S., Lopez, Edith, Martin Klingenspor (68144), Zimmer, A., Klingenspor, M., Diane E Brown, Rathkolb Birgit, Guide, J., Adler, T., Gale, E., Hayat Harati, Calzada-Wack Julia, Breton, S., Rozman Jan, Cotman, S. L., Vanessa C. Wheeler (136566), Silva-Buttkus, Patricia da +229 morecore +2 more sourcesIndividuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis [PDF]
, 2017
Individuals with heterozygous
GRN
mutations exhibit clinicopathological hallmarks of neuronal ceroid lipofuscinosis.
Ari J. Green, Connor Ludwig, Eric J. Huang, John F. Staropoli, Bigio, Eileen, Ludwig, Connor, Helene Boudin, Andres Cruz-Herranz, Mackenzie, Ian R, Jeffrey M. Gelfand, Ward, Michael E, Minami, Sakura S, Christian Cordano, Shannon Leslie, Marek-Marsel Mesulam, Meredith Reichert, Staropoli, John, Seeley, William W, Staropoli, John F, Ward, Michael, Gelfand, Jeffrey M, Cotman, Susan L, Cotman, Susan, Mesulam, Marek-Marsel, Mackenzie, Ian, Minami, Sakura, Telpoukhovskaia, Maria, Miller, Bruce, Hsin-Yi Huang, Alavi, Marcel V, Sakura S. Minami, Li Gan, Ian R. Mackenzie, Susan L. Cotman, Reichert, Meredith, Huang, Eric, Gan, Li, Boudin, Helene, Marcel V. Alavi, Matthew S. Bogyo, Eileen Bigio, Robert Chen, Gelfand, Jeffrey, Michael E. Ward, Philipp Albrecht, Maria Telpoukhovskaia, Miller, Bruce L, Alavi, Marcel, Leslie, Shannon, Taubes, Ali, Ali Taubes, Green, Ari J, Huang, Hsin-Yi, Huang, Eric J, Bogyo, Matthew, Bruce L. Miller, Seeley, William, Cruz-Herranz, Andres, Bogyo, Matthew S, William W. Seeley, Green, Ari, Albrecht, Philipp, Cordano, Christian, Chen, Robert +63 morecore +2 more sources
