Search Results - "van Blitterswijk, Marka"

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS by 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

“…Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating neurodegenerative disorders with clinical, genetic, and neuropathological…”
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RNA processing pathways in amyotrophic lateral sclerosis by van Blitterswijk, Marka, Landers, John E.

“…RNA processing is a tightly regulated, highly complex pathway which includes RNA transcription, pre-mRNA splicing, editing, transportation, translation, and…”
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Evidence for an oligogenic basis of amyotrophic lateral sclerosis by BLITTERSWIJK, Marka Van, ES, Michael A. Van, DE BAKKER, Paul I. W, VELDINK, Jan H, DEN BERG, Leonard H. Van, HENNEKAM, Eric A. M, DOOIJES, Dennis, RHEENEN, Wouter Van, MEDIC, Jelena, BOURQUE, Pierre R, SCHELHAAS, Helenius J, DER KOOI, Anneke J. Van, DE VISSER, Marianne

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VCP mutations in familial and sporadic amyotrophic lateral sclerosis by Koppers, Max, van Blitterswijk, Marka M, Vlam, Lotte, Rowicka, Paulina A, van Vught, Paul W.J, Groen, Ewout J.N, Spliet, Wim G.M, Engelen-Lee, JooYeon, Schelhaas, Helenius J, de Visser, Marianne, van der Kooi, Anneke J, van der Pol, W-Ludo, Pasterkamp, R. Jeroen, Veldink, Jan H, van den Berg, Leonard H

“…Abstract Mutations in the valosin-containing protein (VCP) gene were recently reported to be the cause of 1%–2% of familial amyotrophic lateral sclerosis (ALS)…”
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Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions by van der Ende, Emma L., Jackson, Jazmyne L., White, Adrianna, Seelaar, Harro, van Blitterswijk, Marka, Van Swieten, John C.

“…Since the discovery of the C9orf72 repeat expansion as the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis, it has…”
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Advances in sequencing technologies for amyotrophic lateral sclerosis research by Udine, Evan, Jain, Angita, van Blitterswijk, Marka

“…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…”
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Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS by Rademakers, Rosa, van Blitterswijk, Marka

“…Identifying disease genes implicated in late-onset neurodegenerative disorders can be challenging due to the lack of DNA samples from multiple affected family…”
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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS by Gendron, Tania F., Bieniek, Kevin F., Zhang, Yong-Jie, Jansen-West, Karen, Ash, Peter E. A., Caulfield, Thomas, Daughrity, Lillian, Dunmore, Judith H., Castanedes-Casey, Monica, Chew, Jeannie, Cosio, Danielle M., van Blitterswijk, Marka, Lee, Wing C., Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard

“…Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating neurodegenerative disorders with clinical, genetic, and neuropathological…”
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Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS by Prudencio, Mercedes, Belzil, Veronique V, Batra, Ranjan, Ross, Christian A, Gendron, Tania F, Pregent, Luc J, Murray, Melissa E, Overstreet, Karen K, Piazza-Johnston, Amelia E, Desaro, Pamela, Bieniek, Kevin F, DeTure, Michael, Lee, Wing C, Biendarra, Sherri M, Davis, Mary D, Baker, Matthew C, Perkerson, Ralph B, van Blitterswijk, Marka, Stetler, Caroline T, Rademakers, Rosa, Link, Christopher D, Dickson, Dennis W, Boylan, Kevin B, Li, Hu, Petrucelli, Leonard

“…Evidence suggests that aberrant RNA processing contributes to amyotrophic lateral sclerosis (ALS). Using RNA sequencing, Prudencio et al . assessed the extent…”
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C9orf72 repeats compromise nucleocytoplasmic transport by van Blitterswijk, Marka, Rademakers, Rosa

“…The molecular mechanisms of neurodegeneration due to a repeat expansion in C9orf72 , the most common cause of frontotemporal dementia and amyotrophic lateral…”
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Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts by Kramer, Nicholas J., Carlomagno, Yari, Zhang, Yong-Jie, Almeida, Sandra, Cook, Casey N., Gendron, Tania F., Prudencio, Mercedes, Van Blitterswijk, Marka, Belzil, Veronique, Couthouis, Julien, Paul, Joseph West, Goodman, Lindsey D., Daughrity, Lillian, Chew, Jeannie, Garrett, Aliesha, Pregent, Luc, Jansen-West, Karen, Tabassian, Lilia J., Rademakers, Rosa, Boylan, Kevin, Graff-Radford, Neill R., Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Boeve, Bradley F., Deng, Ning, Feng, Yanan, Cheng, Tzu-Hao, Dickson, Dennis W., Cohen, Stanley N., Bonini, Nancy M., Link, Christopher D., Gao, Fen-Biao, Petrucelli, Leonard, Gitler, Aaron D.

“…An expanded hexanucleotide repeat in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia (c9FTD/ALS). Therapeutics are being developed to…”
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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 by 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

“…Summary Background Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 ( C9ORF72 ) are the most common known genetic cause of frontotemporal…”
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TYROBP genetic variants in early-onset Alzheimer's disease by Pottier, Cyril, Ravenscroft, Thomas A, Brown, Patricia H, Finch, NiCole A, Baker, Matt, Parsons, Meeia, Asmann, Yan W, Ren, Yingxue, Christopher, Elizabeth, Levitch, Denise, van Blitterswijk, Marka, Cruchaga, Carlos, Campion, Dominique, Nicolas, Gaël, Richard, Anne-Claire, Guerreiro, Rita, Bras, Jose T, Zuchner, Stephan, Gonzalez, Michael A, Bu, Guojun, Younkin, Steven, Knopman, David S, Josephs, Keith A, Parisi, Joseph E, Petersen, Ronald C, Ertekin-Taner, Nilüfer, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, Rademakers, Rosa

“…Abstract We aimed to identify new candidate genes potentially involved in early-onset Alzheimer's disease (EOAD). Exome sequencing was conducted on 45 EOAD…”
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Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease by 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

“…Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 'GGGGCC' (G C ) repeat that causes…”
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APOE2 Exacerbates TDP‐43 Related Toxicity in the Absence of Alzheimer Pathology by Meneses, Axel D., Koga, Shunsuke, Li, Zonghua, O'Leary, Justin, Li, Fuyao, Chen, Kai, Murakami, Aya, Qiao, Wenhui, Kurti, Aishe, Heckman, Michael G., White, Launia, Xie, Manling, Chen, Yixing, Finch, Nicole A., Lim, Melina J., Delenclos, Marion, DeTure, Michael A., Linares, Cynthia, Martin, Nicholas B., Ikezu, Tadafumi C., Blitterswijk, Marka M., Wu, Long‐Jun, McLean, Pamela J., Rademakers, Rosa, Ross, Owen A., Dickson, Dennis W., Bu, Guojun, Zhao, Na

“…Objective Recent evidence supports a link between increased TDP‐43 burden and the presence of an APOE4 gene allele in Alzheimer's disease (AD); however, it is…”
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In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers by 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

“…A growing body of evidence suggests that a loss of chromosome 9 open reading frame 72 ( C9ORF72 ) expression, formation of dipeptide-repeat proteins, and…”
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Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers by 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

“…A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic…”
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Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers by van Blitterswijk, Marka, Mullen, Bianca, Heckman, Michael G, 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

“…Abstract Repeat expansions in chromosome 9 open reading frame 72 ( C9ORF72 ) are an important cause of both motor neuron disease (MND) and frontotemporal…”
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Jump from Pre-mutation to Pathologic Expansion in C9orf72 by Xi, Zhengrui, van Blitterswijk, Marka, Zhang, Ming, McGoldrick, Philip, McLean, Jesse R., Yunusova, Yana, Knock, Erin, Moreno, Danielle, Sato, Christine, McKeever, Paul M., Schneider, Raphael, Keith, Julia, Petrescu, Nicolae, Fraser, Paul, Tartaglia, Maria Carmela, Baker, Matthew C., Graff-Radford, Neill R., Boylan, Kevin B., Dickson, Dennis W., Mackenzie, Ian R., Rademakers, Rosa, Robertson, Janice, Zinman, Lorne, Rogaeva, Ekaterina

“…An expanded G4C2 repeat in C9orf72 represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration…”
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VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient by van Blitterswijk, Marka, van Es, Michael A, Koppers, Max, van Rheenen, Wouter, Medic, Jelena, Schelhaas, Helenius J, van der Kooi, Anneke J, de Visser, Marianne, Veldink, Jan H, van den Berg, Leonard H

“…Abstract Previously, we have reported amyotrophic lateral sclerosis (ALS) families with multiple mutations in major ALS-associated genes. These findings…”
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