Upper motor neuron‐predominant motor neuron disease presenting as atypical parkinsonism: A clinicopathological study von Murakami, Aya, Koga, Shunsuke, Fujioka, Shinsuke, White, Adrianna E., Bieniek, Kevin F., Sekiya, Hiroaki, DeJesus‐Hernandez, Mariely, Finch, NiCole A., Blitterswijk, Marka, Nakamura, Masataka, Tsuboi, Yoshio, Murray, Melissa E., Wszolek, Zbigniew K., Dickson, Dennis W.

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Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis von Rademakers, Rosa, Stewart, Heather, Dejesus-Hernandez, Mariely, Krieger, Charles, Graff-Radford, Neill, Fabros, Marife, Briemberg, Hannah, Cashman, Neil, Eisen, Andrew, Mackenzie, Ian R.A.

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Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS von Ash, Peter E.A., Bieniek, Kevin F., Gendron, Tania F., Caulfield, Thomas, Lin, Wen-Lang, DeJesus-Hernandez, Mariely, van Blitterswijk, Marka M., Jansen-West, Karen, Paul, Joseph W., Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard

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yeast functional screen predicts new candidate ALS disease genes von Couthouis, Julien, Hart, Michael P, Shorter, James, DeJesus-Hernandez, Mariely, Erion, Renske, Oristano, Rachel, Liu, Annie X, Ramos, Daniel, Jethava, Niti, Hosangadi, Divya, Epstein, James, Chiang, Ashley, Diaz, Zamia, Nakaya, Tadashi, Ibrahim, Fadia, Kim, Hyung-Jun, Solski, Jennifer A, Williams, Kelly L, Mojsilovic-Petrovic, Jelena, Ingre, Caroline, Boylan, Kevin, Graff-Radford, Neill R, Dickson, Dennis W, Clay-Falcone, Dana, Elman, Lauren, McCluskey, Leo, Greene, Robert, Kalb, Robert G, Lee, Virginia M.-Y, Trojanowski, John Q, Ludolph, Albert, Robberecht, Wim, Andersen, Peter M, Nicholson, Garth A, Blair, Ian P, King, Oliver D, Bonini, Nancy M, Van Deerlin, Vivianna, Rademakers, Rosa, Mourelatos, Zissimos, Gitler, Aaron D

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Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study von van Blitterswijk, Marka, PhD, DeJesus-Hernandez, Mariely, BS, Niemantsverdriet, Ellis, BS, Murray, Melissa E, PhD, Heckman, Michael G, MS, Diehl, Nancy N, BS, Brown, Patricia H, MS, Baker, Matthew C, BSc, Finch, NiCole A, MS, Bauer, Peter O, PhD, Serrano, Geidy, PhD, Beach, Thomas G, Prof, Josephs, Keith A, Prof, Knopman, David S, Prof, Petersen, Ronald C, Prof, Boeve, Bradley F, Prof, Graff-Radford, Neill R, Prof, Boylan, Kevin B, MD, Petrucelli, Leonard, Prof, Dickson, Dennis W, Prof, Rademakers, Rosa, Dr

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De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis von DeJesus‐Hernandez, Mariely, Kocerha, Jannet, Finch, NiCole, Crook, Richard, Baker, Matt, Desaro, Pamela, Johnston, Amelia, Rutherford, Nicola, Wojtas, Aleksandra, Kennelly, Kathleen, Wszolek, Zbigniew K., Graff‐Radford, Neill, Boylan, Kevin, Rademakers, Rosa

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

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Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p von Stewart, Heather, Rutherford, Nicola J., Briemberg, Hannah, Krieger, Charles, Cashman, Neil, Fabros, Marife, Baker, Matt, Fok, Alice, DeJesus-Hernandez, Mariely, Eisen, Andrew, Rademakers, Rosa, Mackenzie, Ian R. A.

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TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia von van Blitterswijk, Marka, Mullen, Bianca, Nicholson, Alexandra M., Bieniek, Kevin F., Heckman, Michael G., Baker, Matthew C., DeJesus-Hernandez, Mariely, Finch, NiCole A., 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 III, Charles L., 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

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

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

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Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion von Udine, Evan, Finch, NiCole A, DeJesus-Hernandez, Mariely, Jackson, Jazmyne L, Baker, Matthew C, Saravanaperumal, Siva Arumugam, Wieben, Eric, Ebbert, Mark T W, Shah, Jaimin, Petrucelli, Leonard, Rademakers, Rosa, Oskarsson, Björn, van Blitterswijk, Marka

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

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Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion von Khan, Baber K, Yokoyama, Jennifer S, Takada, Leonel T, Sha, Sharon J, Rutherford, Nicola J, Fong, Jamie C, Karydas, Anna M, Wu, Teresa, Ketelle, Robin S, Baker, Matthew C, Hernandez, Mariely-Dejesus, Coppola, Giovanni, Geschwind, Daniel H, Rademakers, Rosa, Lee, Suzee E, Rosen, Howard J, Rabinovici, Gil D, Seeley, William W, Rankin, Katherine P, Boxer, Adam L, Miller, Bruce L

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

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

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

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Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome von DeJesus-Hernandez, Mariely, Rayaprolu, Sruti, Soto-Ortolaza, Alexandra I, Rutherford, Nicola J, Heckman, Michael G, Traynor, Sharleen, Strongosky, Audrey, Graff-Radford, Neill, Van Gerpen, Jay, Uitti, Ryan J, Shih, Jerry J, Lin, Siong-Chi, Wszolek, Zbigniew K, Rademakers, Rosa, Ross, Owen A

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De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis von DeJesus-Hernandez, Mariely, Kocerha, Jannet, Finch, NiCole, Crook, Richard, Baker, Matt, Desaro, Pamela, Johnston, Amelia, Rutherford, Nicola, Wojtas, Aleksandra, Kennelly, Kathleen, Wszolek, Zbigniew K., Graff-Radford, Neill, Boylan, Kevin, Rademakers, Rosa

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C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository von Rutherford, Nicola J, DeJesus-Hernandez, Mariely, Baker, Matt C, Kryston, Thomas B, Brown, Patricia E, Lomen-Hoerth, Catherine, Boylan, Kevin, Wszolek, Zbigniew K, Rademakers, Rosa

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