Sleep Disturbances in Pediatric Bipolar Disorder: A Comparison between Bipolar I and Bipolar NOS

por Baroni, Argelinda, Hernandez, Mariely, Grant, Marie C., Faedda, Gianni L.
Publicado 2012

Parental Reports of Prodromal Psychopathology in Pediatric Bipolar Disorder

por Hernandez, Mariely, Marangoni, Ciro, Grant, Marie C., Estrada, Jezelle, Faedda, Gianni L.
Publicado 2017

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis

por Verbeeck, Christophe, Deng, Qiudong, DeJesus-Hernandez, Mariely, Taylor, Georgia, Ceballos-Diaz, Carolina, Kocerha, Jannet, Golde, Todd, Das, Pritam, Rademakers, Rosa, Dickson, Dennis W, Kukar, Thomas
Publicado 2012

Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations

por Kocerha, Jannet, Kouri, Naomi, Baker, Matt, Finch, NiCole, DeJesus-Hernandez, Mariely, Gonzalez, John, Chidamparam, Kumaravel, Josephs, Keith A, Boeve, Bradley F, Graff-Radford, Neill R, Crook, Julia, Dickson, Dennis W, Rademakers, Rosa
Publicado 2011

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

por Jackson, Jazmyne L., Finch, NiCole A., Baker, Matthew C., Kachergus, Jennifer M., DeJesus-Hernandez, Mariely, Pereira, Kimberly, Christopher, Elizabeth, Prudencio, Mercedes, Heckman, Michael G., Thompson, E. Aubrey, Dickson, Dennis W., Shah, Jaimin, Oskarsson, Björn, Petrucelli, Leonard, Rademakers, Rosa, van Blitterswijk, Marka
Publicado 2020

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

por Whitwell, Jennifer L., Weigand, Stephen D., Boeve, Bradley F., Senjem, Matthew L., Gunter, Jeffrey L., DeJesus-Hernandez, Mariely, Rutherford, Nicola J., Baker, Matthew, Knopman, David S., Wszolek, Zbigniew K., Parisi, Joseph E., Dickson, Dennis W., Petersen, Ronald C., Rademakers, Rosa, Jack, Clifford R., Josephs, Keith A.
Publicado 2012

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

por Ebbert, Mark T. W., Farrugia, Stefan L., Sens, Jonathon P., Jansen-West, Karen, Gendron, Tania F., Prudencio, Mercedes, McLaughlin, Ian J., Bowman, Brett, Seetin, Matthew, DeJesus-Hernandez, Mariely, Jackson, Jazmyne, Brown, Patricia H., Dickson, Dennis W., van Blitterswijk, Marka, Rademakers, Rosa, Petrucelli, Leonard, Fryer, John D.
Publicado 2018

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations

por Pottier, Cyril, Mateiu, Ligia, Baker, Matthew C, DeJesus-Hernandez, Mariely, Teixeira Vicente, Cristina, Finch, NiCole A, Tian, Shulan, van Blitterswijk, Marka, Murray, Melissa E, Ren, Yingxue, Petrucelli, Leonard, Oskarsson, Björn, Biernacka, Joanna M, Graff-Radford, Neill R, Boeve, Bradley F, Petersen, Ronald C, Josephs, Keith A, Asmann, Yan W, Dickson, Dennis W, Rademakers, Rosa
Publicado 2021

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

por Nicholson, Alexandra M., Zhou, Xiaolai, Perkerson, Ralph B., Parsons, Tammee M., Chew, Jeannie, Brooks, Mieu, DeJesus-Hernandez, Mariely, Finch, NiCole A., Matchett, Billie J., Kurti, Aishe, Jansen-West, Karen R., Perkerson, Emilie, Daughrity, Lillian, Castanedes-Casey, Monica, Rousseau, Linda, Phillips, Virginia, Hu, Fenghua, Gendron, Tania F., Murray, Melissa E., Dickson, Dennis W., Fryer, John D., Petrucelli, Leonard, Rademakers, Rosa
Publicado 2018

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

por Dickson, Dennis W., Baker, Matthew C., Jackson, Jazmyne L., DeJesus-Hernandez, Mariely, Finch, NiCole A., Tian, Shulan, Heckman, Michael G., Pottier, Cyril, Gendron, Tania F., Murray, Melissa E., Ren, Yingxue, Reddy, Joseph S., Graff-Radford, Neill R., Boeve, Bradley F., Petersen, Ronald C., Knopman, David S., Josephs, Keith A., Petrucelli, Leonard, Oskarsson, Björn, Sheppard, John W., Asmann, Yan W., Rademakers, Rosa, van Blitterswijk, Marka
Publicado 2019

Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases

por DeJesus-Hernandez, Mariely, Aleff, Ross A, Jackson, Jazmyne L, Finch, NiCole A, Baker, Matthew C, Gendron, Tania F, Murray, Melissa E, McLaughlin, Ian J, Harting, John R, Graff-Radford, Neill R, Oskarsson, Björn, Knopman, David S, Josephs, Keith A, Boeve, Bradley F, Petersen, Ronald C, Fryer, John D, Petrucelli, Leonard, Dickson, Dennis W, Rademakers, Rosa, Ebbert, Mark T W, Wieben, Eric D, van Blitterswijk, Marka
Publicado 2021

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

por DeJesus-Hernandez, Mariely, Finch, NiCole A., Wang, Xue, Gendron, Tania F., Bieniek, Kevin F., Heckman, Michael G., Vasilevich, Aliaksei, Murray, Melissa E., Rousseau, Linda, Weesner, Rachael, Lucido, Anthony, Parsons, Meeia, Chew, Jeannie, Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Boeve, Bradley F., Graff-Radford, Neill R., de Boer, Jan, Asmann, Yan W., Petrucelli, Leonard, Boylan, Kevin B., Dickson, Dennis W., van Blitterswijk, Marka, Rademakers, Rosa
Publicado 2017

The chromosome 9 ALS and FTD locus is probably derived from a single founder

por Mok, Kin, Traynor, Bryan J., Schymick, Jennifer, Tienari, Pentti J., Laaksovirta, Hannu, Peuralinna, Terhi, Myllykangas, Liisa, Chiò, Adriano, Shatunov, Aleksey, Boeve, Bradley F., Boxer, Adam L., DeJesus-Hernandez, Mariely, Mackenzie, Ian R., Waite, Adrian, Williams, Nigel, Morris, Huw R., Simón-Sánchez, Javier, van Swieten, John C., Heutink, Peter, Restagno, Gabriella, Mora, Gabriele, Morrison, Karen E., Shaw, Pamela J., Rollinson, Pamela Sara, Al-Chalabi, Ammar, Rademakers, Rosa, Pickering-Brown, Stuart, Orrell, Richard W., Nalls, Michael A., Hardy, John
Publicado 2012

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

por Finch, NiCole A., Wang, Xue, Baker, Matthew C., Heckman, Michael G., Gendron, Tania F., Bieniek, Kevin F., Wuu, Joanne, DeJesus-Hernandez, Mariely, Brown, Patricia H., Chew, Jeannie, Jansen-West, Karen R., Daughrity, Lillian M., Nicholson, Alexandra M., Murray, Melissa E., Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Petrucelli, Leonard, Boeve, Bradley F., Graff-Radford, Neill R., Asmann, Yan W., Dickson, Dennis W., Benatar, Michael, Bowser, Robert, Boylan, Kevin B., Rademakers, Rosa, van Blitterswijk, Marka
Publicado 2017

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

por Boeve, Bradley F., Boylan, Kevin B., Graff-Radford, Neill R., DeJesus-Hernandez, Mariely, Knopman, David S., Pedraza, Otto, Vemuri, Prashanthi, Jones, David, Lowe, Val, Murray, Melissa E., Dickson, Dennis W., Josephs, Keith A., Rush, Beth K., Machulda, Mary M., Fields, Julie A., Ferman, Tanis J., Baker, Matthew, Rutherford, Nicola J., Adamson, Jennifer, Wszolek, Zbigniew K., Adeli, Anahita, Savica, Rodolfo, Boot, Brendon, Kuntz, Karen M., Gavrilova, Ralitza, Reeves, Andrew, Whitwell, Jennifer, Kantarci, Kejal, Jack, Clifford R., Parisi, Joseph E., Lucas, John A., Petersen, Ronald C., Rademakers, Rosa
Publicado 2012

Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids

por Rademakers, Rosa, Baker, Matt, Nicholson, Alexandra M., Rutherford, Nicola J., Finch, NiCole, Soto-Ortolaza, Alexandra, Lash, Jennifer, Wider, Christian, Wojtas, Aleksandra, DeJesus-Hernandez, Mariely, Adamson, Jennifer, Kouri, Naomi, Sundal, Christina, Shuster, Elizabeth A., Aasly, Jan, MacKenzie, James, Roeber, Sigrun, Kretzschmar, Hans A., Boeve, Bradley F., Knopman, David S., Petersen, Ronald C., Cairns, Nigel J., Ghetti, Bernardino, Spina, Salvatore, Garbern, James, Tselis, Alexandros C., Uitti, Ryan, Das, Pritam, Van Gerpen, Jay A., Meschia, James F., Levy, Shawn, Broderick, Daniel F., Graff-Radford, Neill, Ross, Owen A., Miller, Bradley B., Swerdlow, Russell H., Dickson, Dennis W., Wszolek, Zbigniew K.
Publicado 2011

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

por Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, Kubisch, Christian
Publicado 2014

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

por van Blitterswijk, Marka, Mullen, Bianca, Wojtas, Aleksandra, Heckman, Michael G, Diehl, Nancy N, Baker, Matthew C, DeJesus-Hernandez, Mariely, Brown, Patricia H, Murray, Melissa E, Hsiung, Ging-Yuek R, Stewart, Heather, Karydas, Anna M, Finger, Elizabeth, Kertesz, Andrew, Bigio, Eileen H, Weintraub, Sandra, Mesulam, Marsel, Hatanpaa, Kimmo J, White, Charles L, Neumann, Manuela, Strong, Michael J, Beach, Thomas G, Wszolek, Zbigniew K, Lippa, Carol, Caselli, Richard, Petrucelli, Leonard, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Mackenzie, Ian R, Seeley, William W, Grinberg, Lea T, Miller, Bruce L, Boylan, Kevin B, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, Rademakers, Rosa
Publicado 2014