Works matching IS 00016322 AND DT 2020 AND VI 139 AND IP 6

Results: 11

The structural differences between patient-derived α-synuclein strains dictate characteristics of Parkinson's disease, multiple system atrophy and dementia with Lewy bodies.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 977, doi. 10.1007/s00401-020-02157-3
By:
- Van der Perren, Anke;
- Gelders, Géraldine;
- Fenyi, Alexis;
- Bousset, Luc;
- Brito, Filipa;
- Peelaerts, Wouter;
- Van den Haute, Chris;
- Gentleman, Steve;
- Melki, Ronald;
- Baekelandt, Veerle
Publication type:
Article
Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1071, doi. 10.1007/s00401-020-02155-5
By:
- Mondal, Gourish;
- Lee, Julieann C.;
- Ravindranathan, Ajay;
- Villanueva-Meyer, Javier E.;
- Tran, Quynh T.;
- Allen, Sariah J.;
- Barreto, Jairo;
- Gupta, Rohit;
- Doo, Pamela;
- Van Ziffle, Jessica;
- Onodera, Courtney;
- Devine, Patrick;
- Grenert, James P.;
- Samuel, David;
- Li, Rong;
- Metrock, Laura K.;
- Jin, Lee-way;
- Antony, Reuben;
- Alashari, Mouied;
- Cheshier, Samuel
Publication type:
Article
Prevalence in Britain of abnormal prion protein in human appendices before and after exposure to the cattle BSE epizootic.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 965, doi. 10.1007/s00401-020-02153-7
By:
- Gill, O. Noel;
- Spencer, Yvonne;
- Richard-Loendt, Angela;
- Kelly, Carole;
- Brown, David;
- Sinka, Katy;
- Andrews, Nick;
- Dabaghian, Reza;
- Simmons, Marion;
- Edwards, Philip;
- Bellerby, Peter;
- Everest, David J.;
- McCall, Mark;
- McCardle, Linda M.;
- Linehan, Jacqueline;
- Mead, Simon;
- Hilton, David A.;
- Ironside, James W.;
- Brandner, Sebastian
Publication type:
Article
Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1115, doi. 10.1007/s00401-020-02139-5
By:
- de Kock, Leanne;
- Rivera, Barbara;
- Foulkes, William D.
Publication type:
Article
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1089, doi. 10.1007/s00401-020-02150-w
By:
- Kushnir, Alexander;
- Todd, Joshua J.;
- Witherspoon, Jessica W.;
- Yuan, Qi;
- Reiken, Steven;
- Lin, Harvey;
- Munce, Ross H.;
- Wajsberg, Benjamin;
- Melville, Zephan;
- Clarke, Oliver B.;
- Wedderburn-Pugh, Kaylee;
- Wronska, Anetta;
- Razaqyar, Muslima S.;
- Chrismer, Irene C.;
- Shelton, Monique O.;
- Mankodi, Ami;
- Grunseich, Christopher;
- Tarnopolsky, Mark A.;
- Tanji, Kurenai;
- Hirano, Michio
Publication type:
Article
Complement deposition at the neuromuscular junction in seronegative myasthenia gravis.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1119, doi. 10.1007/s00401-020-02147-5
By:
- Hoffmann, Sarah;
- Harms, Lutz;
- Schuelke, Markus;
- Rückert, Jens-Carsten;
- Goebel, Hans-Hilmar;
- Stenzel, Werner;
- Meisel, Andreas
Publication type:
Article
Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1109, doi. 10.1007/s00401-020-02142-w
By:
- Castel, David;
- Kergrohen, Thomas;
- Tauziède-Espariat, Arnault;
- Mackay, Alan;
- Ghermaoui, Samia;
- Lechapt, Emmanuèle;
- Pfister, Stefan M.;
- Kramm, Christof M.;
- Boddaert, Nathalie;
- Blauwblomme, Thomas;
- Puget, Stéphanie;
- Beccaria, Kévin;
- Jones, Chris;
- Jones, David T. W.;
- Varlet, Pascale;
- Grill, Jacques;
- Debily, Marie-Anne
Publication type:
Article
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1001, doi. 10.1007/s00401-020-02145-7
By:
- Martin, Shaun;
- Smolders, Stefanie;
- Van den Haute, Chris;
- Heeman, Bavo;
- van Veen, Sarah;
- Crosiers, David;
- Beletchi, Igor;
- Verstraeten, Aline;
- Gossye, Helena;
- Gelders, Géraldine;
- Pals, Philippe;
- Hamouda, Norin Nabil;
- Engelborghs, Sebastiaan;
- Martin, Jean-Jacques;
- Eggermont, Jan;
- De Deyn, Peter Paul;
- Cras, Patrick;
- Baekelandt, Veerle;
- Vangheluwe, Peter;
- Van Broeckhoven, Christine
Publication type:
Article
Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1045, doi. 10.1007/s00401-020-02148-4
By:
- Daude, Nathalie;
- Kim, Chae;
- Kang, Sang-Gyun;
- Eskandari-Sedighi, Ghazaleh;
- Haldiman, Tracy;
- Yang, Jing;
- Fleck, Shelaine C.;
- Gomez-Cardona, Erik;
- Han, Zhuang Zhuang;
- Borrego-Ecija, Sergi;
- Wohlgemuth, Serene;
- Julien, Olivier;
- Wille, Holger;
- Molina-Porcel, Laura;
- Gelpi, Ellen;
- Safar, Jiri G.;
- Westaway, David
Publication type:
Article
PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1025, doi. 10.1007/s00401-020-02138-6
By:
- Kleineidam, Luca;
- Chouraki, Vincent;
- Próchnicki, Tomasz;
- van der Lee, Sven J.;
- Madrid-Márquez, Laura;
- Wagner-Thelen, Holger;
- Karaca, Ilker;
- Weinhold, Leonie;
- Wolfsgruber, Steffen;
- Boland, Anne;
- Martino Adami, Pamela V.;
- Lewczuk, Piotr;
- Popp, Julius;
- Brosseron, Frederic;
- Jansen, Iris E.;
- Hulsman, Marc;
- Kornhuber, Johannes;
- Peters, Oliver;
- Berr, Claudine;
- Heun, Reinhard
Publication type:
Article
Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of "dual-genotype" IDH-mutant infiltrating gliomas.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1105, doi. 10.1007/s00401-020-02141-x
By:
- Zepeda-Mendoza, Cinthya J.;
- Vaubel, Rachael A.;
- Zarei, Shabnam;
- Ida, Cristiane M.;
- Matthews, Martin;
- Acree, Sara;
- Raghunathan, Aditya;
- Giannini, Caterina;
- Jenkins, Robert B.
Publication type:
Article