Search Results - "BAKER, MATT"

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics by Mackenzie, Ian R., Nicholson, Alexandra M., Sarkar, Mohona, Messing, James, Purice, Maria D., Pottier, Cyril, Annu, Kavya, Baker, Matt, Perkerson, Ralph B., Kurti, Aishe, Matchett, Billie J., Mittag, Tanja, Temirov, Jamshid, Hsiung, Ging-Yuek R., Krieger, Charles, Murray, Melissa E., Kato, Masato, Fryer, John D., Petrucelli, Leonard, Zinman, Lorne, Weintraub, Sandra, Mesulam, Marsel, Keith, Julia, Zivkovic, Sasha A., Hirsch-Reinshagen, Veronica, Roos, Raymond P., Züchner, Stephan, Graff-Radford, Neill R., Petersen, Ronald C., Caselli, Richard J., Wszolek, Zbigniew K., Finger, Elizabeth, Lippa, Carol, Lacomis, David, Stewart, Heather, Dickson, Dennis W., Kim, Hong Joo, Rogaeva, Ekaterina, Bigio, Eileen, Boylan, Kevin B., Taylor, J. Paul, Rademakers, Rosa

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and…”
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Detection of long repeat expansions from PCR-free whole-genome sequence data by Dolzhenko, Egor, van Vugt, Joke J F A, Shaw, Richard J, Bekritsky, Mitchell A, van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S, Rajan, Vani, Lajoie, Bryan R, Johnson, Nathan H, Kingsbury, Zoya, Humphray, Sean J, Schellevis, Raymond D, Brands, William J, Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H P, van Es, Michael A, McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardiman, Orla, Al-Chalabi, Ammar, Shaw, Chris, Smith, Bradley, Neo, Edmund J, Morrison, Karen, Shaw, Pamela J, Reeves, Catherine, Winterkorn, Lara, Wexler, Nancy S, Housman, David E, Ng, Christopher W, Li, Alina L, Taft, Ryan J, van den Berg, Leonard H, Bentley, David R, Veldink, Jan H, Eberle, Michael A

“…Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is…”
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CSF1R mutations link POLD and HDLS as a single disease entity by NICHOLSON, Alexandra M, BAKER, Matt C, KNOPMAN, David S, RADEMAKERS, Rosa, FINCH, Nicole A, RUTHERFORD, Nicola J, WIDER, Christian, GRAFF-RADFORD, Neill R, NELSON, Peter T, BRENT CLARK, H, WSZOLEK, Zbigniew K, DICKSON, Dennis W

“…Pigmented orthochromatic leukodystrophy (POLD) and hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) are rare neurodegenerative disorders…”
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Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease by Neumann, Manuela, Roeber, Sigrun, Kretzschmar, Hans A., Rademakers, Rosa, Baker, Matt, Mackenzie, Ian R. A.

“…Neuronal intermediate filament inclusion disease (NIFID) is an uncommon neurodegenerative condition that typically presents as early-onset, sporadic…”
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Frontotemporal dementia due to C9ORF72 mutations: Clinical and imaging features by SHA, Sharon J, TAKADA, Leonel T, PRIBADI, Mochtar, COPPOLA, Giovanni, GESCHWIND, Daniel H, RADEMAKERS, Rosa, LEE, Suzee E, SEELEY, William, MILLER, Bruce L, BOXER, Adam L, RANKIN, Katherine P, YOKOYAMA, Jennifer S, RUTHERFORD, Nicola J, FONG, Jamie C, KHAN, Baber, KARYDAS, Anna, BAKER, Matt C, DEJESUS-HERNANDEZ, Mariely

“…To describe the phenotype of patients with C9FTD/ALS (C9ORF72) hexanucleotide repeat expansion. A total of 648 patients with frontotemporal dementia…”
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TDP-43 A315T mutation in familial motor neuron disease by Gitcho, Michael A., Baloh, Robert H., Chakraverty, Sumi, Mayo, Kevin, Norton, Joanne B., Levitch, Denise, Hatanpaa, Kimmo J., White III, Charles L., Bigio, Eileen H., Caselli, Richard, Baker, Matt, Al-Lozi, Muhammad T., Morris, John C., Pestronk, Alan, Rademakers, Rosa, Goate, Alison M., Cairns, Nigel J.

“…To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA‐binding protein 43 (TDP‐43) proteinopathies to…”
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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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TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia by Nicholson, Alexandra M., Finch, NiCole A., Wojtas, Aleksandra, Baker, Matt C., Perkerson, Ralph B., Castanedes‐Casey, Monica, Rousseau, Linda, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Hsiung, Ging‐Yuek R., Mackenzie, Ian R., Finger, Elizabeth, Boeve, Bradley F., Ertekin‐Taner, Nilüfer, Graff‐Radford, Neill R., Dickson, Dennis W., Rademakers, Rosa

“…Frontotemporal lobar degeneration (FTLD) is the second leading cause of dementia in individuals under age 65. In many patients, the predominant pathology…”
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Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p by 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.

“…Two studies recently identified a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene ( C9ORF72 ) as…”
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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis by Rutherford, Nicola J, Zhang, Yong-Jie, Baker, Matt, Gass, Jennifer M, Finch, Nicole A, Xu, Ya-Fei, Stewart, Heather, Kelley, Brendan J, Kuntz, Karen, Crook, Richard J P, Sreedharan, Jemeen, Vance, Caroline, Sorenson, Eric, Lippa, Carol, Bigio, Eileen H, Geschwind, Daniel H, Knopman, David S, Mitsumoto, Hiroshi, Petersen, Ronald C, Cashman, Neil R, Hutton, Mike, Shaw, Christopher E, Boylan, Kevin B, Boeve, Bradley, Graff-Radford, Neill R, Wszolek, Zbigniew K, Caselli, Richard J, Dickson, Dennis W, Mackenzie, Ian R, Petrucelli, Leonard, Rademakers, Rosa

“…The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar…”
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Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction by Markopoulou, Katerina, Chase, Bruce A, Robowski, Piotr, Strongosky, Audrey, Narożańska, Ewa, Sitek, Emilia J, Berdynski, Mariusz, Barcikowska, Maria, Baker, Matt C, Rademakers, Rosa, Sławek, Jarosław, Klein, Christine, Hückelheim, Katja, Kasten, Meike, Wszolek, Zbigniew K

“…Olfactory dysfunction is associated with normal aging, multiple neurodegenerative disorders, including Parkinson's disease, Lewy body disease and Alzheimer's…”
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What's the beef with gene editing? An investigation of factors influencing U.S. consumers’ acceptance of beef from gene-edited cattle by Parrella, Jean A., Leggette, Holli R., Lu, Peng, Wingenbach, Gary, Baker, Matt, Murano, Elsa

“…•Knowledge, social norms, and perceived benefits positively influenced attitudes.•Perceived risks and food technology neophobia negatively influenced…”
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Passive hip movement measurements related to dynamic motion during gait in hip osteoarthritis by Baker, Matt, Moreside, Janice, Wong, Ivan, Rutherford, Derek J.

“…ABSTRACT Reduced sagittal plane range of motion (ROM) has been reported in individuals with hip osteoarthritis (OA) both during walking and passive testing…”
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A Scoping Review on the Impact of Educational Technology in Agricultural Education by Xu, Zhihong, Adeyemi, Anjorin Ezekiel, Landaverde, Rafael, Kogut, Ashlynn, Baker, Matt

“…As the global demand for agricultural systems increases, agricultural education programs are implementing educational technologies to train industry…”
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Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia by Rademakers, Rosa, Eriksen, Jason L., Baker, Matt, Robinson, Todd, Ahmed, Zeshan, Lincoln, Sarah J., Finch, Nicole, Rutherford, Nicola J., Crook, Richard J., Josephs, Keith A., Boeve, Bradley F., Knopman, David S., Petersen, Ronald C., Parisi, Joseph E., Caselli, Richard J., Wszolek, Zbigniew K., Uitti, Ryan J., Feldman, Howard, Hutton, Michael L., Mackenzie, Ian R., Graff-Radford, Neill R., Dickson, Dennis W.

“…Loss-of-function mutations in progranulin (GRN) cause ubiquitin- and TAR DNA-binding protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a…”
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Evaluating Factors Explaining U.S. Consumers’ Behavioral Intentions toward Irradiated Ground Beef by Parrella, Jean A., Leggette, Holli R., Lu, Peng, Wingenbach, Gary, Baker, Matt, Murano, Elsa

“…Although food irradiation is deemed safe and endorsed by health-related organizations worldwide, consumers are reluctant to accept the technology. Yet,…”
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Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype by Rutherford, Nicola J, Heckman, Michael G, DeJesus-Hernandez, Mariely, Baker, Matt C, Soto-Ortolaza, Alexandra I, Rayaprolu, Sruti, Stewart, Heather, Finger, Elizabeth, Volkening, Kathryn, Seeley, William W, Hatanpaa, Kimmo J, Lomen-Hoerth, Catherine, Kertesz, Andrew, Bigio, Eileen H, Lippa, Carol, Knopman, David S, Kretzschmar, Hans A, Neumann, Manuela, Caselli, Richard J, White, Charles L, Mackenzie, Ian R, Petersen, Ronald C, Strong, Michael J, Miller, Bruce L, Boeve, Bradley F, Uitti, Ryan J, Boylan, Kevin B, Wszolek, Zbigniew K, Graff-Radford, Neill R, Dickson, Dennis W, Ross, Owen A, Rademakers, Rosa

“…Abstract Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 ( C9ORF72 ) gene cause frontotemporal dementia…”
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Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasia by Oboudiyat, Carly, Bigio, Eileen H, Bonakdarpour, Borna, Baker, Matt C, Rademakers, Rosa, Weintraub, Sandra, Mesulam, M.-Marsel

“…A52-year-old right-handed man reported 2 years of progressive word-finding difficulties. He noticed hesitations when retrieving words and difficulty writing…”
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FDG-PET in presymptomatic C9orf72 mutation carriers by Popuri, Karteek, Beg, Mirza Faisal, Lee, Hyunwoo, Balachandar, Rakesh, Wang, Lei, Sossi, Vesna, Jacova, Claudia, Baker, Matt, Shahinfard, Elham, Rademakers, Rosa, Mackenzie, Ian R.A., Hsiung, Ging-Yuek R.

“…•FDG-PET can detect cerebral glucose hypometabolism in presymptomatic C9orf72 carriers.•Metabolic changes are seen in cingulate gyrus, frontal and temporal…”
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Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation by Townley, Ryan A., Polsinelli, Angelina J., Fields, Julie A., Machulda, Mary M., Jones, David T., Graff-Radford, Jonathan, Kantarci, Kejal M., Lowe, Val J., Rademakers, Rosa V., Baker, Matt C., Kumar, Neeraj, Boeve, Bradley F.

“…Highly penetrant inherited mutations in the prion protein gene (PRNP) offer a window to study the pathobiology of prion disorders. Clinical,…”
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