Works matching AU Petrucelli, Leonard

Results: 181
    1

    Evaluating Glial Fibrillary Acidic Protein and Neurofilament Light as Potential Biomarkers for Spinocerebellar Ataxia 7.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5070, doi. 10.3390/ijms26115070
    By:
    • Hanna Al-Shaikh, Rana;
    • Jansen-West, Karen;
    • Strongosky, Audrey;
    • Parrales, Zoe;
    • Dunmore, Judith A.;
    • Song, Yuping;
    • Gendron, Tania F.;
    • Guevara, Juan C.;
    • Teive, Helio A. G.;
    • Dulski, Jarosław;
    • Sławek, Jarosław;
    • Petrucelli, Leonard;
    • Wszolek, Zbigniew K.;
    • Prudencio, Mercedes
    Publication type:
    Article
    2

    Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicing.

    Published in:
    Acta Neuropathologica, 2025, v. 149, n. 1, p. 1, doi. 10.1007/s00401-025-02901-7
    By:
    • Faura, Júlia;
    • Heeman, Bavo;
    • Pottier, Cyril;
    • Baker, Matthew C.;
    • DeJesus-Hernandez, Mariely;
    • Küçükali, Fahri;
    • Heiß, Laura;
    • Wynants, Sarah;
    • Van den Broeck, Marleen;
    • De Rijk, Peter;
    • De Pooter, Tim;
    • Joris, Geert;
    • Finch, NiCole A.;
    • Asmann, Yan;
    • Strazisar, Mojca;
    • Murray, Melissa E.;
    • Petrucelli, Leonard;
    • Oskarsson, Björn;
    • Sleegers, Kristel;
    • Josephs, Keith A.
    Publication type:
    Article
    3

    ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics Open Access.

    Published in:
    Genomics, Proteomics & Bioinformatics, 2024, v. 22, n. 6, p. 1, doi. 10.1093/gpbjnl/qzae083
    By:
    • Li, Ziyi;
    • Weller, Cory A;
    • Shah, Syed;
    • Johnson, Nicholas L;
    • Hao, Ying;
    • Jarreau, Paige B;
    • Roberts, Jessica;
    • Guha, Deyaan;
    • Bereda, Colleen;
    • Klaisner, Sydney;
    • Machado, Pedro;
    • Zanovello, Matteo;
    • Prudencio, Mercedes;
    • Oskarsson, Björn;
    • Staff, Nathan P;
    • Dickson, Dennis W;
    • Fratta, Pietro;
    • Petrucelli, Leonard;
    • Narayan, Priyanka;
    • Cookson, Mark R
    Publication type:
    Article
    4

    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
    5

    Association of Physical Activity With Neurofilament Light Chain Trajectories in Autosomal Dominant Frontotemporal Lobar Degeneration Variant Carriers.

    Published in:
    JAMA Neurology, 2023, v. 80, n. 1, p. 82, doi. 10.1001/jamaneurol.2022.4178
    By:
    • Casaletto, Kaitlin B.;
    • Kornack, John;
    • Paolillo, Emily W.;
    • Rojas, Julio C.;
    • VandeBunte, Anna;
    • Staffaroni, Adam S.;
    • Lee, Shannon;
    • Heuer, Hilary;
    • Forsberg, Leah;
    • Ramos, Eliana M.;
    • Miller, Bruce L.;
    • Kramer, Joel H.;
    • Yaffe, Kristine;
    • Petrucelli, Leonard;
    • Boxer, Adam;
    • Boeve, Brad;
    • Gendron, Tania F.;
    • Rosen, Howard
    Publication type:
    Article
    6

    Association of Apolipoprotein E ε4 With Transactive Response DNA-Binding Protein 43.

    Published in:
    JAMA Neurology, 2018, v. 75, n. 11, p. 1347, doi. 10.1001/jamaneurol.2018.3139
    By:
    • Wennberg, Alexandra M.;
    • Tosakulwong, Nirubol;
    • Lesnick, Timothy G.;
    • Murray, Melissa E.;
    • Whitwell, Jennifer L.;
    • Liesinger, Amanda M.;
    • Petrucelli, Leonard;
    • Boeve, Bradley F.;
    • Parisi, Joseph E.;
    • Knopman, David S.;
    • Petersen, Ronald C.;
    • Dickson, Dennis W.;
    • Josephs, Keith A.
    Publication type:
    Article
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    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
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    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
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    TDP-43 is a key player in the clinical features associated with Alzheimer's disease.

    Published in:
    Acta Neuropathologica, 2014, v. 127, n. 6, p. 811, doi. 10.1007/s00401-014-1269-z
    By:
    • Josephs, Keith;
    • Whitwell, Jennifer;
    • Weigand, Stephen;
    • Murray, Melissa;
    • Tosakulwong, Nirubol;
    • Liesinger, Amanda;
    • Petrucelli, Leonard;
    • Senjem, Matthew;
    • Knopman, David;
    • Boeve, Bradley;
    • Ivnik, Robert;
    • Smith, Glenn;
    • Jack, Clifford;
    • Parisi, Joseph;
    • Petersen, Ronald;
    • Dickson, Dennis
    Publication type:
    Article
    17

    Staging TDP-43 pathology in Alzheimer's disease.

    Published in:
    Acta Neuropathologica, 2014, v. 127, n. 3, p. 441, doi. 10.1007/s00401-013-1211-9
    By:
    • Josephs, Keith;
    • Murray, Melissa;
    • Whitwell, Jennifer;
    • Parisi, Joseph;
    • Petrucelli, Leonard;
    • Jack, Clifford;
    • Petersen, Ronald;
    • Dickson, Dennis
    Publication type:
    Article
    18

    Mechanisms of toxicity in C9FTLD/ALS.

    Published in:
    Acta Neuropathologica, 2014, v. 127, n. 3, p. 359, doi. 10.1007/s00401-013-1237-z
    By:
    • Gendron, Tania;
    • Belzil, Veronique;
    • Zhang, Yong-Jie;
    • Petrucelli, Leonard
    Publication type:
    Article
    19

    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
    20

    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
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    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;
    • Goodman, Ira;
    • Petrucelli, Leonard;
    • Rademakers, Rosa;
    • Dickson, Dennis
    Publication type:
    Article
    23

    Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

    Published in:
    Acta Neuropathologica, 2013, v. 126, n. 3, p. 401, doi. 10.1007/s00401-013-1147-0
    By:
    • Fratta, Pietro;
    • Poulter, Mark;
    • Lashley, Tammaryn;
    • Rohrer, Jonathan;
    • Polke, James;
    • Beck, Jon;
    • Ryan, Natalie;
    • Hensman, Davina;
    • Mizielinska, Sarah;
    • Waite, Adrian;
    • Lai, Mang-Ching;
    • Gendron, Tania;
    • Petrucelli, Leonard;
    • Fisher, Elizabeth;
    • Revesz, Tamas;
    • Warren, Jason;
    • Collinge, John;
    • Isaacs, Adrian;
    • Mead, Simon
    Publication type:
    Article
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    Robust cytoplasmic accumulation of phosphorylated TDP-43 in transgenic models of tauopathy.

    Published in:
    Acta Neuropathologica, 2013, v. 126, n. 1, p. 39, doi. 10.1007/s00401-013-1123-8
    By:
    • Clippinger, Amy;
    • D'Alton, Simon;
    • Lin, Wen-Lang;
    • Gendron, Tania;
    • Howard, John;
    • Borchelt, David;
    • Cannon, Ashley;
    • Carlomagno, Yari;
    • Chakrabarty, Paramita;
    • Cook, Casey;
    • Golde, Todd;
    • Levites, Yona;
    • Ranum, Laura;
    • Schultheis, Patrick;
    • Xu, Guilian;
    • Petrucelli, Leonard;
    • Sahara, Naruhiko;
    • Dickson, Dennis;
    • Giasson, Benoit;
    • Lewis, Jada
    Publication type:
    Article
    26

    Neuronal sensitivity to TDP-43 overexpression is dependent on timing of induction.

    Published in:
    Acta Neuropathologica, 2012, v. 123, n. 6, p. 807, doi. 10.1007/s00401-012-0979-3
    By:
    • Cannon, Ashley;
    • Yang, Baoli;
    • Knight, Joshua;
    • Farnham, Ian;
    • Zhang, Yongjie;
    • Wuertzer, Charles;
    • D'Alton, Simon;
    • Lin, Wen-lang;
    • Castanedes-Casey, Monica;
    • Rousseau, Linda;
    • Scott, Brittany;
    • Jurasic, Michael;
    • Howard, John;
    • Yu, Xin;
    • Bailey, Rachel;
    • Sarkisian, Matthew;
    • Dickson, Dennis;
    • Petrucelli, Leonard;
    • Lewis, Jada
    Publication type:
    Article
    27

    GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.

    Published in:
    Nature, 2015, v. 525, n. 7567, p. 129, doi. 10.1038/nature14974
    By:
    • Freibaum, Brian D.;
    • Lu, Yubing;
    • Lopez-Gonzalez, Rodrigo;
    • Kim, Nam Chul;
    • Almeida, Sandra;
    • Lee, Kyung-Ha;
    • Badders, Nisha;
    • Valentine, Marc;
    • Miller, Bruce L.;
    • Wong, Philip C.;
    • Petrucelli, Leonard;
    • Kim, Hong Joo;
    • Gao, Fen-Biao;
    • Taylor, J. Paul
    Publication type:
    Article
    28

    Evidence of cerebellar TDP-43 loss of function in FTLD-TDP.

    Published in:
    Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01408-6
    By:
    • Pickles, Sarah;
    • Gendron, Tania F.;
    • Koike, Yuka;
    • Yue, Mei;
    • Song, Yuping;
    • Kachergus, Jennifer M.;
    • Shi, J.;
    • DeTure, Michael;
    • Thompson, E. Aubrey;
    • Oskarsson, Björn;
    • Graff-Radford, Neill R.;
    • Boeve, Bradley F.;
    • Petersen, Ronald C.;
    • Wszolek, Zbigniew K.;
    • Josephs, Keith A.;
    • Dickson, Dennis W.;
    • Petrucelli, Leonard;
    • Cook, Casey N.;
    • Prudencio, Mercedes
    Publication type:
    Article
    29

    Clusterin ameliorates tau pathology in vivo by inhibiting fibril formation.

    Published in:
    Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01079-1
    By:
    • Wojtas, Aleksandra M.;
    • Carlomagno, Yari;
    • Sens, Jonathon P.;
    • Kang, Silvia S.;
    • Jensen, Tanner D.;
    • Kurti, Aishe;
    • Baker, Kelsey E.;
    • Berry, Taylor J.;
    • Phillips, Virginia R.;
    • Castanedes, Monica Casey;
    • Awan, Ayesha;
    • DeTure, Michael;
    • De Castro, Cristhoper H. Fernandez;
    • Librero, Ariston L.;
    • Yue, Mei;
    • Daughrity, Lillian;
    • Jansen-West, Karen R.;
    • Cook, Casey N.;
    • Dickson, Dennis W.;
    • Petrucelli, Leonard
    Publication type:
    Article
    30

    Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30387-4
    By:
    • Krishnan, Gopinath;
    • Raitcheva, Denitza;
    • Bartlett, Daniel;
    • Prudencio, Mercedes;
    • McKenna-Yasek, Diane M.;
    • Douthwright, Catherine;
    • Oskarsson, Björn E.;
    • Ladha, Shafeeq;
    • King, Oliver D.;
    • Barmada, Sami J.;
    • Miller, Timothy M.;
    • Bowser, Robert;
    • Watts, Jonathan K.;
    • Petrucelli, Leonard;
    • Brown, Robert H.;
    • Kankel, Mark W.;
    • Gao, Fen-Biao
    Publication type:
    Article
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    Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 17, p. 3421, doi. 10.1093/hmg/ddx233
    By:
    • Prudencio, Mercedes;
    • Gonzales, Patrick K.;
    • Cook, Casey N.;
    • Gendron, Tania F.;
    • Daughrity, Lillian M.;
    • Song, Yuping;
    • Ebbert, Mark T. W.;
    • van Blitterswijk, Marka;
    • Zhang, Yong-Jie;
    • Jansen-West, Karen;
    • Baker, Matthew C.;
    • DeTure, Michael;
    • Rademakers, Rosa;
    • Boylan, Kevin B.;
    • Dickson, Dennis W.;
    • Petrucelli, Leonard;
    • Link, Christopher D.
    Publication type:
    Article
    42

    TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1732, doi. 10.1093/hmg/ddx093
    By:
    • Moujalled, Diane;
    • Grubman, Alexandra;
    • Acevedo, Karla;
    • Shu Yang;
    • Ke, Yazi D.;
    • Moujalled, Donia M.;
    • Duncan, Clare;
    • Caragounis, Aphrodite;
    • Perera, Nirma D.;
    • Turner, Bradley J.;
    • Prudencio, Mercedes;
    • Petrucelli, Leonard;
    • Blair, Ian;
    • Ittner, Lars M.;
    • Crouch, Peter J.;
    • Liddell, Jeffrey R.;
    • White, Anthony R.
    Publication type:
    Article
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    Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 21, p. 6198, doi. 10.1093/hmg/ddv336
    By:
    • Cook, Casey;
    • Kang, Silvia S.;
    • Carlomagno, Yari;
    • Wen-Lang Lin;
    • Mei Yue;
    • Aishe Kurti;
    • Mitsuru Shinohara;
    • Jansen-West, Karen;
    • Perkerson, Emilie;
    • Castanedes-Casey, Monica;
    • Rousseau, Linda;
    • Phillips, Virginia;
    • Guojun Bu;
    • Dickson, Dennis W.;
    • Petrucelli, Leonard;
    • Fryer, John D.
    Publication type:
    Article
    45

    Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 6, p. 1467, doi. 10.1093/hmg/ddt534
    By:
    • Lee, Wing C.;
    • Almeida, Sandra;
    • Prudencio, Mercedes;
    • Caulfield, Thomas R.;
    • Zhang, Yong-Jie;
    • Tay, William M.;
    • Bauer, Peter O.;
    • Chew, Jeannie;
    • Sasaguri, Hiroki;
    • Jansen-West, Karen R.;
    • Gendron, Tania F.;
    • Stetler, Caroline T.;
    • Finch, NiCole;
    • Mackenzie, Ian R.;
    • Rademakers, Rosa;
    • Gao, Fen-Biao;
    • Petrucelli, Leonard
    Publication type:
    Article
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    Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins.

    Published in:
    Science Translational Medicine, 2022, v. 14, n. 662, p. 1, doi. 10.1126/scitranslmed.abq3215
    By:
    • Gao, Junli;
    • Mewborne, Quinlan T.;
    • Girdhar, Amandeep;
    • Sheth, Udit;
    • Coyne, Alyssa N.;
    • Punathil, Ritika;
    • Kang, Bong Gu;
    • Dasovich, Morgan;
    • Veire, Austin;
    • DeJesus Hernandez, Mariely;
    • Liu, Shuaichen;
    • Shi, Zheng;
    • Dafinca, Ruxandra;
    • Fouquerel, Elise;
    • Talbot, Kevin;
    • Kam, Tae-In;
    • Zhang, Yong-Jie;
    • Dickson, Dennis;
    • Petrucelli, Leonard;
    • van Blitterswijk, Marka
    Publication type:
    Article