Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: Death and C9orf72[original query] |
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Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis. Journal of neurology, neurosurgery, and psychiatry 2013 Feb 84 (2): 163-9. Irwin David J, McMillan Corey T, Brettschneider Johannes, Libon David J, Powers John, Rascovsky Katya, Toledo Jon B, Boller Ashley, Bekisz Jonathan, Chandrasekaran Keerthi, Wood Elisabeth McCarty, Shaw Leslie M, Woo John H, Cook Philip A, Wolk David A, Arnold Steven E, Van Deerlin Vivianna M, McCluskey Leo F, Elman Lauren, Lee Virginia M-Y, Trojanowski John Q, Grossman Murr |
Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3. Neurobiology of aging 2013 May 34 (5): 1518.e5-7. Koppers Max, Groen Ewout J N, van Vught Paul W J, van Rheenen Wouter, Witteveen Esther, van Es Michael A, Pasterkamp R Jeroen, van den Berg Leonard H, Veldink Jan |
Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis. Annals of neurology 2013 Nov 74 (5): 699-708. Byrne Susan, Heverin Mark, Elamin Marwa, Bede Peter, Lynch Catherine, Kenna Kevin, MacLaughlin Russell, Walsh Cathal, Al Chalabi Ammar, Hardiman Or |
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
Neurobiology of aging 2014 Jul 35 (7): 1778.e9-1778.e23. Xie Tong, Deng Libin, Mei Puming, Zhou Yiyi, Wang Bo, Zhang Jie, Lin Jiari, Wei Yi, Zhang Xiong, Xu Rens |
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta neuropathologica 2014 Mar 127 (3): 407-18. Gallagher Michael D, Suh Eunran, Grossman Murray, Elman Lauren, McCluskey Leo, Van Swieten John C, Al-Sarraj Safa, Neumann Manuela, Gelpi Ellen, Ghetti Bernardino, Rohrer Jonathan D, Halliday Glenda, Van Broeckhoven Christine, Seilhean Danielle, Shaw Pamela J, Frosch Matthew P, Alafuzoff Irina, Antonell Anna, Bogdanovic Nenad, Brooks William, Cairns Nigel J, Cooper-Knock Johnathan, Cotman Carl, Cras Patrick, Cruts Marc, De Deyn Peter P, DeCarli Charles, Dobson-Stone Carol, Engelborghs Sebastiaan, Fox Nick, Galasko Douglas, Gearing Marla, Gijselinck Ilse, Grafman Jordan, Hartikainen Päivi, Hatanpaa Kimmo J, Highley J Robin, Hodges John, Hulette Christine, Ince Paul G, Jin Lee-Way, Kirby Janine, Kofler Julia, Kril Jillian, Kwok John B J, Levey Allan, Lieberman Andrew, Llado Albert, Martin Jean-Jacques, Masliah Eliezer, McDermott Christopher J, McKee Ann, McLean Catriona, Mead Simon, Miller Carol A, Miller Josh, Munoz David G, Murrell Jill, Paulson Henry, Piguet Olivier, Rossor Martin, Sanchez-Valle Raquel, Sano Mary, Schneider Julie, Silbert Lisa C, Spina Salvatore, van der Zee Julie, Van Langenhove Tim, Warren Jason, Wharton Stephen B, White Charles L, Woltjer Randall L, Trojanowski John Q, Lee Virginia M Y, Van Deerlin Vivianna, Chen-Plotkin Alice |
Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS. Neuropathology : official journal of the Japanese Society of Neuropathology 2015 Aug . Bury Joanna J, Highley J Robin, Cooper-Knock Johnathan, Goodall Emily F, Higginbottom Adrian, McDermott Christopher J, Ince Paul G, Shaw Pamela J, Kirby Jani |
Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration. Acta neuropathologica 2015 Sep 130 (3): 363-72. Suh EunRan, Lee Edward B, Neal Donald, Wood Elisabeth M, Toledo Jon B, Rennert Lior, Irwin David J, McMillan Corey T, Krock Bryan, Elman Lauren B, McCluskey Leo F, Grossman Murray, Xie Sharon X, Trojanowski John Q, Van Deerlin Vivianna |
Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations. Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Oct 1-9. Snowden Julie S, Adams Jennifer, Harris Jennifer, Thompson Jennifer C, Rollinson Sara, Richardson Anna, Jones Matthew, Neary David, Mann David M, Pickering-Brown Stua |
The role of the FTD-ALS associated C9orf72 expansion in suicide victims. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 Jul 1-4. Solje Eino, Riipinen Pirkko, Helisalmi Seppo, Särkioja Terttu, Laitinen Marjo, Hiltunen Mikko, Hakko Helinä, Remes Anne |
Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes. Human molecular genetics 2016 07 25 (13): 2681-2697. Busch Johanna I, Unger Travis L, Jain Nimansha, Tyler Skrinak R, Charan Rakshita A, Chen-Plotkin Alice |
TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). Neurobiology of aging 2017 Jul . Rostgaard Nina, Roos Peter, Budtz-Jørgensen Esben, Johannsen Peter, Waldemar Gunhild, Nørremølle Anne, Lindquist Suzanne G, Gydesen Susanne, Brown Jeremy M, Collinge John, Isaacs Adrian M, , Nielsen Troels T, Nielsen Jørgen |
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis. Neurobiology of aging 2017 Jan . Tripolszki Kornélia, Csányi Bernadett, Nagy Dóra, Ratti Antonia, Tiloca Cinzia, Silani Vincenzo, Kereszty Éva, Török Nóra, Vécsei László, Engelhardt József I, Klivényi Péter, Nagy Nikoletta, Széll Már |
Increased prevalence of granulovacuolar degeneration in C9orf72 mutation. Acta neuropathologica 2019 5 138 (5): 783-793. Riku Yuichi, Duyckaerts Charles, Boluda Susana, Plu Isabelle, Le Ber Isabelle, Millecamps Stéphanie, Salachas François, , Yoshida Mari, Ando Takashi, Katsuno Masahisa, Sobue Gen, Seilhean Daniel |
Dysregulation of AMPA receptor subunit expression in sporadic ALS post-mortem brain. The Journal of pathology 2019 10 250 (1): 67-78. Gregory Jenna M, Livesey Matthew R, McDade Karina, Selvaraj Bhuvaneish T, Barton Samantha K, Chandran Siddharthan, Smith Col |
Necrosome-positive granulovacuolar degeneration is associated with TDP-43 pathological lesions in the hippocampus of ALS/FTLD cases. Neuropathology and applied neurobiology 2020 9 47 (2): 328-345. Van Schoor E, Koper M J, Ospitalieri S, Dedeene L, Tomé S O, Vandenberghe R, Brenner D, Otto M, Weishaupt J, Ludolph A C, Van Damme P, Van Den Bosch L, Thal D |
Inflammatory profiles relate to survival in subtypes of amyotrophic lateral sclerosis. Neurology(R) neuroimmunology & neuroinflammation 2020 3 7 (3): . Olesen Mads Nikolaj, Wuolikainen Anna, Nilsson Anna Christine, Wirenfeldt Martin, Forsberg Karin, Madsen Jonna Skov, Lillevang Soeren Thue, Brandslund Ivan, Andersen Peter Munch, Asgari Nasr |
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS. Neurology. Genetics 2020 2 5 (6): e374. Amador Maria-Del-Mar, Muratet François, Teyssou Elisa, Banneau Guillaume, Danel-Brunaud Véronique, Allart Etienne, Antoine Jean-Christophe, Camdessanché Jean-Philippe, Anheim Mathieu, Rudolf Gabrielle, Tranchant Christine, Fleury Marie-Céline, Bernard Emilien, Stevanin Giovanni, Millecamps Stéphan |
A novel temporal-predominant neuro-astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS-TDP. Brain pathology (Zurich, Switzerland) 2020 Dec e12924. Llibre-Guerra Jorge J, Lee Suzee E, Suemoto Claudia K, Ehrenberg Alexander J, Kovacs Gabor G, Karydas Anna, Staffaroni Adam, Franca Resende Elisa De Paula, Kim Eun-Joo, Hwang Ji-Hye, Ramos Eliana Marisa, Wojta Kevin J, Pasquini Lorenzo, Pang Shirley Yin-Yu, Spina Salvatore, Allen Isabel E, Kramer Joel, Miller Bruce L, Seeley William W, Grinberg Lea |
Old age genetically confirmed frontotemporal lobar degeneration with TDP-43 has limbic predominant TDP-43 deposition. Neuropathology and applied neurobiology 2021 5 47 (7): 1050-1059. Buciuc Marina, Whitwell Jennifer L, Baker Matthew C, Rademakers Rosa, Dickson Dennis W, Josephs Keith |
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis. Brain communications 2023 5 5 (3): fcad152. Wolfgang P Ruf, Matej Boros, Axel Freischmidt, David Brenner, Veselin Grozdanov, Joao de Meirelles, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Grosskreutz, Ute Weyen, Rene Guenther, Martin Regensburger, Tim Hagenacker, Jan C Koch, Alexander Emmer, Annekathrin Roediger, Robert Steinbach, Joachim Wolf, Jochen H Weishaupt, Paul Lingor, Marcus Deschauer, Isabell Cordts, Thomas Klopstock, Peter Reilich, Florian Schoeberl, Berthold Schrank, Daniel Zeller, Andreas Hermann, Antje Knehr, Kornelia Günther, Johannes Dorst, Joachim Schuster, Reiner Siebert, Albert C Ludolph, Kathrin Müll |
Disease survival and progression in TARDBP ALS patients from Sardinia, Italy. Journal of neurology 2023 10 . Giuseppe Borghero, Francesca Pili, Antonella Muroni, Tommaso Ercoli, Maria Ida Pateri, Silvy Pilotto, Alessandra Maccabeo, Giovanni Defaz |
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- Page last updated:Mar 25, 2024
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