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15 results on '"Tolentino, Jerlyn"'

1. The Effect of Interference on Temporal Order Memory for Random and Fixed Sequences in Nondemented Older Adults

Author

Tolentino, Jerlyn C., Pirogovsky, Eva, and Luu, Trinh

Abstract

Two experiments tested the effect of temporal interference on order memory for fixed and random sequences in young adults and nondemented older adults. The results demonstrate that temporal order memory for fixed and random sequences is impaired in nondemented older adults, particularly when temporal interference is high. However, temporal order memory for fixed sequences is comparable between older adults and young adults when temporal interference is minimized. The results suggest that temporal order memory is less efficient and more susceptible to interference in older adults, possibly due to impaired temporal pattern separation.

Published
2012
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2. MO207: A Phase 1/2, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of BION-1301 in Healthy Volunteers and Adults with IGA Nephropathy

Author

Barratt, Jonathan, primary, Schwartz, Brian, additional, Sorensen, Bess, additional, Macdonald, Margaret, additional, Tolentino, Jerlyn, additional, Lo, Jeannette, additional, King, Andrew, additional, Prasad N Iyer, Sai, additional, and Glicklich, Alan, additional

Published
2022
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6. Expanding CEP290 Mutational Spectrum in Ciliopathies

Author

Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., and Valente, Enza Maria

Published
2009
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14. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Author

Valente, Enza Maria, primary, Logan, Clare V, additional, Mougou-Zerelli, Soumaya, additional, Lee, Jeong Ho, additional, Silhavy, Jennifer L, additional, Brancati, Francesco, additional, Iannicelli, Miriam, additional, Travaglini, Lorena, additional, Romani, Sveva, additional, Illi, Barbara, additional, Adams, Matthew, additional, Szymanska, Katarzyna, additional, Mazzotta, Annalisa, additional, Lee, Ji Eun, additional, Tolentino, Jerlyn C, additional, Swistun, Dominika, additional, Salpietro, Carmelo D, additional, Fede, Carmelo, additional, Gabriel, Stacey, additional, Russ, Carsten, additional, Cibulskis, Kristian, additional, Sougnez, Carrie, additional, Hildebrandt, Friedhelm, additional, Otto, Edgar A, additional, Held, Susanne, additional, Diplas, Bill H, additional, Davis, Erica E, additional, Mikula, Mario, additional, Strom, Charles M, additional, Ben-Zeev, Bruria, additional, Lev, Dorit, additional, Sagie, Tally Lerman, additional, Michelson, Marina, additional, Yaron, Yuval, additional, Krause, Amanda, additional, Boltshauser, Eugen, additional, Elkhartoufi, Nadia, additional, Roume, Joelle, additional, Shalev, Stavit, additional, Munnich, Arnold, additional, Saunier, Sophie, additional, Inglehearn, Chris, additional, Saad, Ali, additional, Alkindy, Adila, additional, Thomas, Sophie, additional, Vekemans, Michel, additional, Dallapiccola, Bruno, additional, Katsanis, Nicholas, additional, Johnson, Colin A, additional, Attié-Bitach, Tania, additional, and Gleeson, Joseph G, additional

Published
2010
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15. Expanding CEP290mutational spectrum in ciliopathiesHow to cite this article: Travaglini L, Brancati F, AttieBitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet J, Swistun D, Tolentino J, The International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM. 2009. Expanding CEP290mutational spectrum in ciliopathies. Am J Med Genet Part A 149A:2173–2180.

Author

Travaglini, Lorena, Brancati, Francesco, AttieBitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, JeanMichel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., and Valente, Enza Maria

Abstract

Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders JSRD, Meckel syndrome MKS, SeniorLoken syndrome and isolated Leber congenital amaurosis LCA. Although these conditions are recessively inherited, in a subset of patients only one CEP290mutation could be detected. To assess whether genomic rearrangements involving the CEP290gene could represent a possible mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in two groups of CEP290heterozygous patients, including five JSRDMKS cases and four LCA, respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing CEP290Cterminus that resulted in marked reduction of mRNA expression. No copy number alterations were identified in the remaining probands. The present work expands the CEP290genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290mutated allele was identified. © 2009 WileyLiss, Inc.

Published
2009
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