Works by Rademakers, Rosa

Results: 234

Increased TMEM106B levels lead to lysosomal dysfunction which affects synaptic signaling and neuronal health.

Published in:

Molecular Neurodegeneration, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13024-025-00831-2

By:

Perneel, Jolien;
Lastra Osua, Miranda;
Alidadiani, Sara;
Peeters, Nele;
De Witte, Linus;
Heeman, Bavo;
Manzella, Simona;
De Rycke, Riet;
Brooks, Mieu;
Perkerson, Ralph B.;
Calus, Elke;
De Coster, Wouter;
Neumann, Manuela;
Mackenzie, Ian R. A.;
Van Dam, Debby;
Asselbergh, Bob;
Ellender, Tommas;
Zhou, Xiaolai;
Rademakers, Rosa

Publication type:

Article

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

Published in:

Neurogenetics, 2014, v. 15, n. 1, p. 23, doi. 10.1007/s10048-013-0378-5

By:

Baker, Matt;
Strongosky, Audrey;
Sanchez-Contreras, Monica;
Yang, Shan;
Ferguson, Will;
Calne, Donald;
Calne, Susan;
Stoessl, A.;
Allanson, Judith;
Broderick, Daniel;
Hutton, Michael;
Dickson, Dennis;
Ross, Owen;
Wszolek, Zbigniew;
Rademakers, Rosa

Publication type:

Article

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 237, doi. 10.1007/s10048-007-0102-4

By:

Mackenzie, Ian;
Rademakers, Rosa

Publication type:

Article

Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 964, doi. 10.1002/humu.22582

By:

Sanchez‐Contreras, Monica;
Baker, Matthew C.;
Finch, NiCole A.;
Nicholson, Alexandra;
Wojtas, Aleksandra;
Wszolek, Zbigniew K.;
Ross, Owen A.;
Dickson, Dennis W.;
Rademakers, Rosa

Publication type:

Article

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1377, doi. 10.1002/humu.21241

By:

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

Publication type:

Article

Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1057, doi. 10.1002/humu.20391

By:

Gijselinck, Ilse;
Bogaerts, Veerle;
Rademakers, Rosa;
van der Zee, Julie;
Van Broeckhoven, Christine;
Cruts, Marc

Publication type:

Article

Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1782, doi. 10.1002/acn3.50875

By:

Sakae, Nobutaka;
Roemer, Shanu F.;
Bieniek, Kevin F.;
Murray, Melissa E.;
Baker, Matthew C.;
Kasanuki, Koji;
Graff‐Radford, Neill R.;
Petrucelli, Leonard;
Van Blitterswijk, Marka;
Rademakers, Rosa;
Dickson, Dennis W.

Publication type:

Article

Neurobehavioral Characteristics of FDG-PET Defined Right-Dominant Semantic Dementia: A Longitudinal Study.

Published in:

Dementia & Geriatric Cognitive Disorders, 2021, v. 50, n. 1, p. 17, doi. 10.1159/000513979

By:

Curet Burleson, Alexis X.;
Pham, Nha Trang Thu;
Buciuc, Marina;
Botha, Hugo;
Duffy, Joseph R.;
Clark, Heather M.;
Utianski, Rene L.;
Machulda, Mary M.;
Baker, Matthew C.;
Rademakers, Rosa;
Lowe, Val J.;
Whitwell, Jennifer L.;
Josephs, Keith A.

Publication type:

Article

Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology.

Published in:

JAMA Neurology, 2019, v. 76, n. 6, p. 710, doi. 10.1001/jamaneurol.2019.0250

By:

Heckman, Michael G.;
Brennan, Rebecca R.;
Labbé, Catherine;
Soto, Alexandra I.;
Koga, Shunsuke;
DeTure, Michael A.;
Murray, Melissa E.;
Petersen, Ronald C.;
Boeve, Bradley F.;
van Gerpen, Jay A.;
Uitti, Ryan J.;
Wszolek, Zbigniew K.;
Rademakers, Rosa;
Dickson, Dennis W.;
Ross, Owen A.

Publication type:

Article

Dementia Research—A Roadmap for the Next Decade.

Published in:

JAMA Neurology, 2017, v. 74, n. 2, p. 141, doi. 10.1001/jamaneurol.2016.5004

By:

Traynor, Bryan J.;
Rademakers, Rosa

Publication type:

Article

Expanded C9ORF72 Hexanucleotide Repeat in Depressive Pseudodementia.

Published in:

JAMA Neurology, 2014, v. 71, n. 6, p. 775, doi. 10.1001/jamaneurol.2013.6368

By:

Bieniek, Kevin F.;
van Blitterswijk, Marka;
Baker, Matthew C.;
Petrucelli, Leonard;
Rademakers, Rosa;
Dickson, Dennis W.

Publication type:

Article

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019, v. 20, n. 7/8, p. 568, doi. 10.1080/21678421.2019.1632347

By:

Hirsch-Reinshagen, Veronica;
Alfaify, Omar A.;
Hsiung, Ging-Yuek R.;
Pottier, Cyril;
Baker, Matt;
Perkerson III, Ralph B.;
Rademakers, Rosa;
Briemberg, Hanna;
Foti, Dean J.;
Mackenzie, Ian R.

Publication type:

Article

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.

Published in:

2018

By:

Pottier, Cyril;
Baker, Matt;
Rademakers, Rosa;
Rampersaud, Evadnie;
Wu, Gang;
Zhang, Jinghui;
Wuu, Joanne;
Bermudez, Christin;
Hussain, Sumaira;
Cooley, Anne;
Wallace, Marielle;
Benatar, Michael;
McCauley, Jacob L.;
Zuchner, Stephan;
Schule, Rebecca;
Taylor, J. Paul

Publication type:

Case Study

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 5/6, p. 463, doi. 10.3109/21678421.2013.787630

By:

van Blitterswijk, Marka;
Baker, Matthew C.;
Bieniek, Kevin F.;
Knopman, David S.;
Josephs, Keith A.;
Boeve, Bradley;
Caselli, Richard;
Wszolek, Zbigniew K.;
Petersen, Ronald;
Graff-Radford, Neill R.;
Boylan, Kevin B.;
Dickson, Dennis W.;
Rademakers, Rosa

Publication type:

Article

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 3, p. 132, doi. 10.3109/17482968.2012.724075

By:

Coon, Elizabeth A.;
Daube, Jasper R.;
Dejesus-Hernandez, Mariely;
Adeli, Anahita;
Savica, Rodolfo;
Parisi, Joseph E.;
Dickson, Dennis W.;
Josephs, Keith A.;
Baker, Matthew C.;
Johnson, Kris A.;
Ivnik, Robert J.;
Petersen, Ronald C.;
Knopman, David S.;
Boylan, Kevin B.;
Rademakers, Rosa;
Boeve, Bradley F.

Publication type:

Article

Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration.

Published in:

Neuropathology & Applied Neurobiology, 2014, v. 40, n. 6, p. 778, doi. 10.1111/nan.12144

By:

Bit‐Ivan, Esther N.;
Lee, Kyung‐Hwa;
Gitelman, Darren;
Weintraub, Sandra;
Mesulam, Marsel;
Rademakers, Rosa;
Isaacs, Adrian M.;
Hatanpaa, Kimmo J.;
White, Charles L.;
Mao, Qinwen;
Akman, Orhan;
DiMauro, Salvatore;
Bigio, Eileen H.

Publication type:

Article

Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family.

Published in:

Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1160248

By:

Perneel, Jolien;
Manoochehri, Masood;
Huey, Edward D.;
Rademakers, Rosa;
Goldman, Jill

Publication type:

Article

Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 4, p. 471, doi. 10.1038/sj.ejhg.5201986

By:

Nuytemans, Karen;
Rademakers, Rosa;
Theuns, Jessie;
Pals, Philippe;
Engelborghs, Sebastiaan;
Pickut, Barbara;
de Pooter, Tim;
Peeters, Karin;
Mattheijssens, Maria;
Van den Broeck, Marleen;
Cras, Patrick;
De Deyn, Peter Paul;
van Broeckhoven, Christine

Publication type:

Article

ALS-FTD Complex Disorder due to C9ORF72 Gene Mutation: Description of First Polish Family.

Published in:

European Neurology, 2014, v. 72, n. 1/2, p. 64, doi. 10.1159/000362267

By:

Siuda, Joanna;
Lewicka, Tatiana;
Bujak, Malgorzata;
Opala, Grzegorz;
Golenia, aleksandra;
Slowik, agnieszka;
van Blitterswijk, Marka;
Baker, Matt;
Ertekin-Taner, Nilufer;
Wszolek, Zbigniew K.;
Rademakers, Rosa

Publication type:

Article

Loss of Tmem106b leads to cerebellum Purkinje cell death and motor deficits.

Published in:

Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12945

By:

Rademakers, Rosa;
Nicholson, Alexandra M.;
Ren, Yingxue;
Koga, Shunsuke;
Nguyen, Hung Phuoc;
Brooks, Mieu;
Qiao, Wenhui;
Quicksall, Zachary S.;
Matchett, Billie;
Perkerson, Ralph B.;
Kurti, Aishe;
Castanedes‐Casey, Monica;
Phillips, Virginia;
Librero, Ariston L;
Fernandez De Castro, Cristhoper H.;
Baker, Matthew C.;
Roemer, Shanu F.;
Murray, Melissa E.;
Asmann, Yan;
Fryer, John D.

Publication type:

Article

FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.

Published in:

Brain Pathology, 2017, v. 27, n. 5, p. 612, doi. 10.1111/bpa.12428

By:

Tacik, Pawel;
DeTure, Michael A.;
Carlomagno, Yari;
Lin, Wen‐Lang;
Murray, Melissa E.;
Baker, Matthew C.;
Josephs, Keith A.;
Boeve, Bradley F.;
Wszolek, Zbigniew K.;
Graff‐Radford, Neill R.;
Parisi, Joseph E.;
Petrucelli, Leonard;
Rademakers, Rosa;
Isaacson, Richard S.;
Heilman, Kenneth M.;
Petersen, Ronald C.;
Dickson, Dennis W.;
Kouri, Naomi

Publication type:

Article

Progressive Supranuclear Palsy: Pathology and Genetics.

Published in:

Brain Pathology, 2007, v. 17, n. 1, p. 74, doi. 10.1111/j.1750-3639.2007.00054.x

By:

Dickson, Dennis W.;
Rademakers, Rosa;
Hutton, Michael L.

Publication type:

Article

Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant.

Published in:

2024

By:

Pressman, Peter S.;
Carter, Danelle J.;
Ramos, Eliana Marisa;
Molden, Joie;
Smith, Kaitlin;
Dino, Francesca;
McMillan, Corey;
Irwin, David;
Rascovsky, Katya;
Ghoshal, Nupur;
Knudtson, Marguerite;
Rademakers, Rosa;
Geschwind, Daniel;
Gendron, Tania;
Petrucelli, Leonard;
Heuer, Hilary;
Boeve, Bradley F.;
Barmada, Sami;
Boxer, Adam;
Tempini, Maria Luisa Gorno

Publication type:

Case Study

Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in : the next generation.

Published in:

2020

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.

Publication type:

journal article

CSF1R mutation presenting as dementia with Lewy bodies.

Published in:

2019

By:

Sharma, Rishi;
Graff-Radford, Jonathan;
Rademakers, Rosa;
Boeve, Bradley F.;
Petersen, Ronald C.;
Jones, David T.

Publication type:

journal article

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

Published in:

Nature Genetics, 2012, v. 44, n. 2, p. 200, doi. 10.1038/ng.1027

By:

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

Publication type:

Article

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Published in:

Nature Genetics, 2011, v. 43, n. 7, p. 699, doi. 10.1038/ng.859

By:

Höglinger, Günter U.;
Melhem, Nadine M.;
Dickson, Dennis W.;
Sleiman, Patrick M. A.;
Li-San Wang;
Klei, Lambertus;
Rademakers, Rosa;
de Silva, Rohan;
Litvan, Irene;
Riley, David E.;
van Swieten, John C.;
Heutink, Peter;
Wszolek, Zbigniew K.;
Uitti, Ryan J.;
Vandrovcova, Jana;
Hurtig, Howard I.;
Gross, Rachel G.;
Maetzler, Walter;
Goldwurm, Stefano;
Tolosa, Eduardo

Publication type:

Article

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Published in:

Nature Genetics, 2010, v. 42, n. 3, p. 234, doi. 10.1038/ng.536

By:

Van Deerlin, Vivianna M.;
Sleiman, Patrick M. A.;
Martinez-Lage, Maria;
Chen-Plotkin, Alice;
Li-San Wang;
Graff-Radford, Neill R.;
Dickson, Dennis W.;
Rademakers, Rosa;
Boeve, Bradley F.;
Grossman, Murray;
Arnold, Steven E.;
Mann, David M. A.;
Pickering-Brown, Stuart M.;
Seelaar, Harro;
Heutink, Peter;
van Swieten, John C.;
Murrell, Jill R.;
Ghetti, Bernardino;
Spina, Salvatore;
Grafman, Jordan

Publication type:

Article

Novel APP mutation V715A associated with presenile Alzheimer’s disease in a German family.

Published in:

Journal of Neurology, 2003, v. 250, n. 11, p. 1374, doi. 10.1007/s00415-003-0182-5

By:

Cruts, Marc;
Dermaut, Bart;
Rademakers, Rosa;
Van den Broeck, Marleen;
Stögbauer, Florian;
Van Broeckhoven, Christine

Publication type:

Article

Human Genetics as a Tool to Identify Progranulin Regulators.

Published in:

Journal of Molecular Neuroscience, 2011, v. 45, n. 3, p. 532, doi. 10.1007/s12031-011-9554-y

By:

Nicholson, Alexandra;
Finch, NiCole;
Rademakers, Rosa

Publication type:

Article

Symmetrical Corticobasal Syndrome Caused by a Novel c.314dup Progranulin Mutation.

Published in:

Journal of Molecular Neuroscience, 2011, v. 45, n. 3, p. 354, doi. 10.1007/s12031-011-9626-z

By:

Dopper, Elise;
Seelaar, Harro;
Chiu, Wang;
Koning, Inge;
Minkelen, Rick;
Baker, Matthew;
Rozemuller, Annemieke;
Rademakers, Rosa;
Swieten, John

Publication type:

Article

Relationships between lewy and tau pathologies in 375 consecutive non-Alzheimer's olfactory bulbs.

Published in:

2018

By:

Kasanuki, Koji;
Ross, Owen A.;
DeTure, Michael A.;
Walton, Ronald L.;
Sanchez‐Contreras, Monica;
Koga, Shunsuke;
Murray, Melissa E.;
Rademakers, Rosa;
Dickson, Dennis W.;
Sanchez-Contreras, Monica

Publication type:

Letter

Cognitive impairment in progressive supranuclear palsy is associated with tau burden.

Published in:

Movement Disorders, 2017, v. 32, n. 12, p. 1772, doi. 10.1002/mds.27198

By:

Koga, Shunsuke;
Parks, Adam;
Kasanuki, Koji;
Sanchez‐Contreras, Monica;
Baker, Matthew C.;
Josephs, Keith A.;
Ahlskog, J. Eric;
Uitti, Ryan J.;
Graff‐Radford, Neill;
van Gerpen, Jay A.;
Wszolek, Zbigniew K.;
Rademakers, Rosa;
Dickson, Dennis W.

Publication type:

Article

Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy.

Published in:

2017

By:

Koga, Shunsuke;
Sanchez‐Contreras, Monica;
Josephs, Keith A.;
Uitti, Ryan J.;
Graff‐Radford, Neill;
Gerpen, Jay A.;
Cheshire, William P.;
Wszolek, Zbigniew K.;
Rademakers, Rosa;
Dickson, Dennis W.;
Sanchez-Contreras, Monica;
Graff-Radford, Neill;
van Gerpen, Jay A

Publication type:

journal article

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Published in:

2017

By:

Sanchez‐Contreras, Monica;
Heckman, Michael G.;
Tacik, Pawel;
Diehl, Nancy;
Brown, Patricia H.;
Soto‐Ortolaza, Alexandra I.;
Christopher, Elizabeth A.;
Walton, Ronald L.;
Ross, Owen A.;
Golbe, Lawrence I.;
Graff‐Radford, Neill;
Wszolek, Zbigniew K.;
Dickson, Dennis W.;
Rademakers, Rosa

Publication type:

journal article

Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.

Published in:

2016

By:

Grütz, Karen;
Volpato, Claudia B.;
Domingo, Aloysius;
Alvarez‐Fischer, Daniel;
Gebert, Uwe;
Schifferle, Günther;
Buffone, Ebba;
Wszolek, Zbigniew K.;
Rademakers, Rosa;
Ferbert, Andreas;
Hicks, Andrew A.;
Klein, Christine;
Pramstaller, Peter P.;
Westenberger, Ana

Publication type:

journal article

Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.

Published in:

2016

By:

Koga, Shunsuke;
Josephs, Keith A.;
Ogaki, Kotaro;
Labbé, Catherine;
Uitti, Ryan J.;
Graff‐Radford, Neill;
van Gerpen, Jay A.;
Cheshire, William P.;
Aoki, Naoya;
Rademakers, Rosa;
Wszolek, Zbigniew K.;
Ross, Owen A.;
Dickson, Dennis W.

Publication type:

journal article

A novel de novo pathogenic mutation in the CACNA1A gene.

Published in:

Movement Disorders, 2012, v. 27, n. 12, p. 1578, doi. 10.1002/mds.25198

By:

Fujioka, Shinsuke;
Rayaprolu, Sruti;
Sundal, Christina;
Broderick, Daniel F.;
Langley, William A.;
Shoffner, John;
Hyams, Lauren C.;
Rademakers, Rosa;
Graff-Radford, Neill R.;
Tatum, William;
Ross, Owen A.;
Wszolek, Zbigniew K.

Publication type:

Article

Progranulin gene mutation with an unusual clinical and neuropathologic presentation.

Published in:

Movement Disorders, 2008, v. 23, n. 8, p. 1168, doi. 10.1002/mds.22065

By:

Wider, Christian;
Uitti, Ryan J.;
Wszolek, Zbigniew K.;
Fang, John Y.;
Josephs, Keith A.;
Baker, Matthew C.;
Rademakers, Rosa;
Hutton, Michael L.;
Dickson, Dennis W.

Publication type:

Article

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress.

Published in:

Acta Neuropathologica, 2014, v. 128, n. 4, p. 505, doi. 10.1007/s00401-014-1336-5

By:

Zhang, Yong-Jie;
Jansen-West, Karen;
Xu, Ya-Fei;
Gendron, Tania;
Bieniek, Kevin;
Lin, Wen-Lang;
Sasaguri, Hiroki;
Caulfield, Thomas;
Hubbard, Jaime;
Daughrity, Lillian;
Chew, Jeannie;
Belzil, Veronique;
Prudencio, Mercedes;
Stankowski, Jeannette;
Castanedes-Casey, Monica;
Whitelaw, Ena;
Ash, Peter;
DeTure, Michael;
Rademakers, Rosa;
Boylan, Kevin

Publication type:

Article

Differential clinicopathologic and genetic features of late-onset amnestic dementias.

Published in:

Acta Neuropathologica, 2014, v. 128, n. 3, p. 411, doi. 10.1007/s00401-014-1302-2

By:

Murray, Melissa;
Cannon, Ashley;
Graff-Radford, Neill;
Liesinger, Amanda;
Rutherford, Nicola;
Ross, Owen;
Duara, Ranjan;
Carrasquillo, Minerva;
Rademakers, Rosa;
Dickson, Dennis

Publication type:

Article

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration.

Published in:

Acta Neuropathologica, 2014, v. 127, n. 2, p. 271, doi. 10.1007/s00401-013-1193-7

By:

Kouri, Naomi;
Carlomagno, Yari;
Baker, Matthew;
Liesinger, Amanda;
Caselli, Richard;
Wszolek, Zbigniew;
Petrucelli, Leonard;
Boeve, Bradley;
Parisi, Joseph;
Josephs, Keith;
Uitti, Ryan;
Ross, Owen;
Graff-Radford, Neill;
DeTure, Michael;
Dickson, Dennis;
Rademakers, Rosa

Publication type:

Article

Antisense transcripts of the expanded <i>C9ORF72</i> hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS.

Published in:

Acta Neuropathologica, 2013, v. 126, n. 6, p. 829, doi. 10.1007/s00401-013-1192-8

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

Publication type:

Article

Reduced <i>C9orf72</i> gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood.

Published in:

Acta Neuropathologica, 2013, v. 126, n. 6, p. 895, doi. 10.1007/s00401-013-1199-1

By:

Belzil, Veronique V.;
Bauer, Peter O.;
Prudencio, Mercedes;
Gendron, Tania F.;
Stetler, Caroline T.;
Yan, Irene K.;
Pregent, Luc;
Daughrity, Lillian;
Baker, Matthew C.;
Rademakers, Rosa;
Boylan, Kevin;
Patel, Tushar C.;
Dickson, Dennis W.;
Petrucelli, Leonard

Publication type:

Article

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

Published in:

Acta Neuropathologica, 2013, v. 126, n. 4, p. 545, doi. 10.1007/s00401-013-1161-2

By:

Murray, Melissa;
Bieniek, Kevin;
Banks Greenberg, M.;
DeJesus-Hernandez, Mariely;
Rutherford, Nicola;
Blitterswijk, Marka;
Niemantsverdriet, Ellis;
Ash, Peter;
Gendron, Tania;
Kouri, Naomi;
Baker, Matt;
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