Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Marka Van Blitterswijk"'
Publikováno v:
Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-15 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) is caused by upper and lower motor neuron loss and has a fairly rapid disease progression, leading to fatality in an average of 2-5 years after symptom onset. Numerous genes have been implicated in this di
Externí odkaz:
https://doaj.org/article/b0217749f2ae4ae08f555de3d45ea4c0
Autor:
Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Jennifer M. Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G. Heckman, E. Aubrey Thompson, Dennis W. Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswijk
Publikováno v:
Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Currently, m
Externí odkaz:
https://doaj.org/article/9eab88c046124a2ea8e3fd804203df32
Autor:
Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Leonard Petrucelli, Björn Oskarsson, John W. Sheppard, Yan W. Asmann, Rosa Rademakers, Marka van Blitterswijk
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-21 (2019)
Abstract The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most common genetic cause of fron
Externí odkaz:
https://doaj.org/article/ab2960ee954841b5ba17d0dbe2ec19e5
Autor:
Nobutaka Sakae, Shanu F. Roemer, Kevin F. Bieniek, Melissa E. Murray, Matthew C. Baker, Koji Kasanuki, Neill R. Graff‐Radford, Leonard Petrucelli, Marka Van Blitterswijk, Rosa Rademakers, Dennis W. Dickson
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1782-1796 (2019)
Abstract Objective To identify clinicopathological differences between frontotemporal lobar degeneration (FTLD) due to mutations in progranulin (FTLD‐GRN) and chromosome 9 open reading frame 72 (FTLD‐C9ORF72). Methods We performed quantitative ne
Externí odkaz:
https://doaj.org/article/7f413b148bef45bca5c50915fd71e1b1
Autor:
Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
Publikováno v:
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-17 (2018)
Abstract Background Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G4C2) repeat that causes approximately 5–7% of all amyotrophic lateral sclerosis (ALS) and frontotem
Externí odkaz:
https://doaj.org/article/2936e588eb3b4aff9a908adca66916b2
Autor:
Yingxue Ren, Marka van Blitterswijk, Mariet Allen, Minerva M. Carrasquillo, Joseph S. Reddy, Xue Wang, Thomas G. Beach, Dennis W. Dickson, Nilüfer Ertekin-Taner, Yan W. Asmann, Rosa Rademakers
Publikováno v:
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-11 (2018)
Abstract Background Single nucleotide polymorphisms (SNPs) inherited as one of two common haplotypes at the transmembrane protein 106B (TMEM106B) locus are associated with the risk of multiple neurodegenerative diseases, including frontotemporal loba
Externí odkaz:
https://doaj.org/article/f2459029660843daa18d77a6080cad0e
Autor:
Alexandra M. Nicholson, NiCole A. Finch, Marcio Almeida, Ralph B. Perkerson, Marka van Blitterswijk, Aleksandra Wojtas, Basar Cenik, Sergio Rotondo, Venette Inskeep, Laura Almasy, Thomas Dyer, Juan Peralta, Goo Jun, Andrew R. Wood, Timothy M. Frayling, Christian Fuchsberger, Sharon Fowler, Tanya M. Teslovich, Alisa K. Manning, Satish Kumar, Joanne Curran, Donna Lehman, Goncalo Abecasis, Ravindranath Duggirala, Cyril Pottier, Haaris A. Zahir, Julia E. Crook, Anna Karydas, Laura Mitic, Ying Sun, Dennis W. Dickson, Guojun Bu, Joachim Herz, Gang Yu, Bruce L. Miller, Shawn Ferguson, Ronald C. Petersen, Neill Graff-Radford, John Blangero, Rosa Rademakers
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)
Increasing progranulin (PGRN) levels is a promising approach for treating frontotemporal dementia and other neurodegenerative diseases. Here Nicholson et al.show that the prosaposin (PSAP) locus is associated with plasma PGRN levels and demonstrate t
Externí odkaz:
https://doaj.org/article/69727bed9cd74c41b1fff7349a1c4efe
Autor:
Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Ian Blair and colleagues use genome-wide linkage analysis and whole exome sequencing to identify mutations in the CCNF gene in large cohorts of amyotrophic lateral sclerosis and frontotemporal dementia patients. In addition to validating the mutation
Externí odkaz:
https://doaj.org/article/1861832d934c49a490f60c7997786e48
Autor:
Marka van Blitterswijk, Eric T Wang, Brad A Friedman, Pamela J Keagle, Patrick Lowe, Ashley Lyn Leclerc, Leonard H van den Berg, David E Housman, Jan H Veldink, John E Landers
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e60788 (2013)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease resulting in severe muscle weakness and eventual death by respiratory failure. Although little is known about its pathogenesis, mutations in fused in sarcoma/translated in liposarcoma
Externí odkaz:
https://doaj.org/article/6c55d7afe3a94fe89d5ecaa1a295fd52
Autor:
Marka van Blitterswijk, Lotte Vlam, Michael A van Es, W-Ludo van der Pol, Eric A M Hennekam, Dennis Dooijes, Helenius J Schelhaas, Anneke J van der Kooi, Marianne de Visser, Jan H Veldink, Leonard H van den Berg
Publikováno v:
PLoS ONE, Vol 7, Iss 11, p e48983 (2012)
Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs bet
Externí odkaz:
https://doaj.org/article/6e32bd40dfad40c4a07d72c6875ecfde