A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Cited by (1,041)

Items 301–400 of 1,041

1. Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling
   Ugolino, Janet, Ji, Yon Ju, Conchina, Karen, Chu, Justin, Nirujogi, Raja Sekhar, Pandey, Akhilesh, Brady, Nathan R., Hamacher-Brady, Anne, Wang, Jiou · 2016 · PLOS Genetics
2. Expression of ALS‐linked TDP‐43 mutant in astrocytes causes non‐cell‐autonomous motor neuron death in rats
   Jianbin Tong, Cao Huang, Fangfang Bi, Qinxue Wu, Bo Huang, Xionghao Liu, Fang Li, Hongxia Zhou, Xu‐Gang Xia · 2013 · The EMBO Journal
3. Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight
   Mark Ebbert, Tanner D. Jensen, Karen R. Jansen‐West, Jonathon P. Sens, Joseph S. Reddy, Perry G. Ridge, John S. K. Kauwe, Véronique Belzil, Luc Pregent, Minerva M. Carrasquillo et al. · 2019 · Genome biology
4. Genetic Variation, Comparative Genomics, and the Diagnosis of Disease
   Evan E. Eichler · 2019 · New England Journal of Medicine
5. The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum
   Tim Van Langenhove, Julie van der Zee, Christine Van Broeckhoven · 2012 · Annals of Medicine
6. Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS
   Hélène Tran, Sandra Almeida, Jill E. Moore, Tania F. Gendron, UmaDevi Chalasani, Yubing Lu, Xing Du, Jeffrey A. Nickerson, Leonard Petrucelli, Zhiping Weng et al. · 2015 · Neuron
7. ALS: A bucket of genes, environment, metabolism and unknown ingredients
   Mónica Zufiría, Francisco Javier Gil-Bea, Roberto Fernández‐Torrón, Juan José Poza, José Luís Muñoz-Blanco, Ricard Rojas‐García, Javier Riancho, Adolfo López de Munaín · 2016 · Progress in Neurobiology
8. Micro-RNAs secreted through astrocyte-derived extracellular vesicles cause neuronal network degeneration in C9orf72 ALS
   Varcianna, André, Myszczynska, Monika A., Castelli, Lydia M., O'Neill, Brendan, Kim, Yeseul, Talbot, Jordan, Nyberg, Sophie, Nyamali, Immanuelle, Heath, Paul R., Stopford, Matthew J. et al. · 2019 · EBioMedicine
9. C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy
   Cook, Casey N., Wu, Yanwei, Odeh, Hana M., Gendron, Tania F., Jansen-West, Karen, del Rosso, Giulia, Yue, Mei, Jiang, Peizhou, Gomes, Edward, Tong, Jimei et al. · 2020 · Science Translational Medicine
10. The Pathobiology of TDP-43 C-Terminal Fragments in ALS and FTLD
    Britt A. Berning, Adam K. Walker · 2019 · Frontiers in Neuroscience
11. Opportunities and challenges of pluripotent stem cell neurodegenerative disease models
    Jackson Sandoe, Kevin C. Eggan · 2013 · Nature Neuroscience
12. An over-oxidized form of superoxide dismutase found in sporadic amyotrophic lateral sclerosis with bulbar onset shares a toxic mechanism with mutant SOD1
    Stefania Guareschi, Emanuela Cova, Cristina Cereda, Mauro Ceroni, Elena Donetti, Daryl A. Bosco, Davide Trotti, Piera Pasinelli · 2012 · Proceedings of the National Academy of Sciences
13. Alternative splicing in neurodegenerative disease and the promise of RNA therapies
    David Nikom, Sika Zheng · 2023 · Nature reviews. Neuroscience
14. Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism
    Laura Ferraiuolo, Kathrin Meyer, Thomas W. Sherwood, Jonathan S. Vick, Shibi B. Likhite, Ashley Frakes, Carlos J. Miranda, Lyndsey Braun, Paul Roy Heath, Ricardo Pineda et al. · 2016 · Proceedings of the National Academy of Sciences
15. C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling
    Joseph Amick, Agnes Roczniak-Ferguson, Shawn M. Ferguson · 2016 · Molecular Biology of the Cell
16. Gene therapy for ALS: A review
    Defne A. Amado, Beverly L. Davidson · 2021 · Molecular Therapy
17. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion
    Khan, Baber K, Yokoyama, Jennifer S, Takada, Leonel T, Sha, Sharon J, Rutherford, Nicola J, Fong, Jamie C, Karydas, Anna M, Wu, Teresa, Ketelle, Robin S, Baker, Matthew C et al. · 2012 · Journal of Neurology, Neurosurgery & Psychiatry
18. Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
    Therrien, Martine, Rouleau, Guy A., Dion, Patrick A., Parker, J. Alex · 2013 · PLoS ONE
19. Misregulated RNA processing in amyotrophic lateral sclerosis
    Polymenidou, Magdalini, Lagier-Tourenne, Clotilde, Hutt, Kasey R., Bennett, C. Frank, Cleveland, Don W., Yeo, Gene W. · 2012 · Brain Research
20. Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing
    Martin H. Schludi, Bavarian Brain Banking Alliance, Stephanie May, Friedrich A. Grässer, Kristin Rentzsch, Elisabeth Kremmer, Clemens Küpper, Thomas Klopstock, Thomas Arzberger, Dieter Edbauer · 2015 · Acta Neuropathologica
21. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
    Johannes Brettschneider, Vivianna M. Van Deerlin, John L. Robinson, Linda K. Kwong, Edward B. Lee, Yousuf Ali, Nathaniel Safren, Mervyn J. Monteiro, Jon B. Toledo, Lauren B. Elman et al. · 2012 · Acta Neuropathologica
22. Modeling Human Disease with Pluripotent Stem Cells: from Genome Association to Function
    Florian T. Merkle, Kevin C. Eggan · 2013 · Cell stem cell
23. Familial Amyotrophic Lateral Sclerosis
    Khrista Boylan · 2015 · Neurologic Clinics
24. Frontotemporal dementia: latest evidence and clinical implications
    Juan Joseph Young, Mallika Lavakumar, Deena J. Tampi, Silpa Balachandran, Rajesh R. Tampi · 2017 · Therapeutic Advances in Psychopharmacology
25. Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis
    Shahram Saberi, Jennifer E. Stauffer, Jie Jiang, Sandra Díaz-García, Amy E. Taylor, Derek J. Schulte, Takuya Ohkubo, Cheyenne L. Schloffman, Marcus Maldonado, Michael W. Baughn et al. · 2017 · Acta Neuropathologica
26. Autophagic and endo-lysosomal dysfunction in neurodegenerative disease
    Bilal R. Malik, Daniel C. Maddison, Gaynor Ann Smith, Owen M. Peters · 2019 · Molecular Brain
27. In vivo genome editing improves motor function and extends survival in a mouse model of ALS
    Gaj, Thomas, Ojala, David S., Ekman, Freja K., Byrne, Leah C., Limsirichai, Prajit, Schaffer, David V. · 2017 · Science Advances
28. Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing
    Pay Gießelmann, Björn Brändl, Etienne Raimondeau, Rebecca Bowen, Christian Rohrandt, Rashmi Tandon, Helene Kretzmer, Günter Assum, Christina Galonska, Reiner Siebert et al. · 2019 · Nature Biotechnology
29. Frontotemporal lobar degeneration
    Grossman, Murray, Seeley, William W., Boxer, Adam L., Hillis, Argye E., Knopman, David S., Ljubenov, Peter A., Miller, Bruce, Piguet, Olivier, Rademakers, Rosa, Whitwell, Jennifer L. et al. · 2023 · Nature Reviews Disease Primers
30. Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
    Mann, David MA, Rollinson, Sara, Robinson, Andrew, Bennion Callister, Janis, Thompson, Jennifer C, Snowden, Julie S, Gendron, Tania, Petrucelli, Leonard, Masuda-Suzukake, Masami, Hasegawa, Masato et al. · 2013 · Acta Neuropathologica Communications
31. Grey and White Matter Changes across the Amyotrophic Lateral Sclerosis-Frontotemporal Dementia Continuum
    Patricia Lillo, Eneida Mioshi, James R. Burrell, Matthew C. Kiernan, John R. Hodges, Michael Hornberger · 2012 · PLoS ONE
32. Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts
    Elisa Onesto, Claudia Colombrita, Valentina Gumina, María Orietta Borghi, Sabrina Dusi, Alberto Doretti, Gigliola Fagiolari, Federica Invernizzi, Maurizio Gualtiero Moggio, Valeria Tiranti et al. · 2016 · Acta Neuropathologica Communications
33. Deep learning predictions of survival based on MRI in amyotrophic lateral sclerosis
    Hannelore K. van der Burgh, Ruben Schmidt, Henk‐Jan Westeneng, Marcel A. de Reus, Leonard H. van den Berg, Martijn P. van den Heuvel · 2016 · NeuroImage Clinical
34. A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy
    Maneka Chitiprolu, Chantal Jagow, Véronique Tremblay, Emma Bondy‐Chorney, Geneviève Paris, Alexandre Savard, Gareth Palidwor, Francesca A. Barry, Lorne H. Zinman, Julia Lee Keith et al. · 2018 · Nature Communications
35. Autophagy and mitophagy in ALS
    Chantell S. Evans, Erika L.F. Holzbaur · 2018 · Neurobiology of Disease
36. C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
    Liu, Elaine Y., Russ, Jenny, Wu, Kathryn, Neal, Donald, Suh, Eunran, McNally, Anna G., Irwin, David J., Van Deerlin, Vivianna M., Lee, Edward B. · 2014 · Acta Neuropathologica
37. Cognitive impairment across ALS clinical stages in a population-based cohort
    Adriano Chiò, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Maura Brunetti, Marco Barberis, Lucia Corrado, Sandra D’Alfonso, Enrica Bersano et al. · 2019 · Neurology
38. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
    Stéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, Danielle Seilhean, Elisa Teyssou, Marine Giraudeau, Carine Moigneu, N. Vandenberghe, Véronique Danel-Brunaud, Philippe Corcia et al. · 2012 · Journal of Medical Genetics
39. Astrocyte physiopathology: At the crossroads of intercellular networking, inflammation and cell death
    Daniela Rossi · 2015 · Progress in Neurobiology
40. Supportive and symptomatic management of amyotrophic lateral sclerosis
    Esther Hobson, Christopher J. McDermott · 2016 · Nature Reviews Neurology
41. Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
    Wouter van Rheenen, Sara L. Pulit, Annelot M. Dekker, Ahmad Al Khleifat, William J. Brands, Alfredo Iacoangeli, Kevin Patrick Kenna, Maarten Kooyman, Russell Lewis McLaughlin, Bas M Middelkoop et al. · 2018 · European Journal of Human Genetics
42. The roles of hnRNP A2 / B1 in RNA biology and disease
    Yu Liu, Songlin Shi · 2020 · Wiley Interdisciplinary Reviews - RNA
43. Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
    Mukamel, Ronen E., Handsaker, Robert E., Sherman, Maxwell A., Barton, Alison R., Zheng, Yiming, McCarroll, Steven A., Loh, Po-Ru · 2021 · Science
44. Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia
    Lall, Deepti, Baloh, Robert H. · 2017 · Journal of Clinical Investigation
45. Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy
    Johnathan Cooper‐Knock, Adrian Higginbottom, Matthew J. Stopford, J. Robin Highley, Paul G. Ince, Stephen B. Wharton, Stuart M. Pickering-Brown, Janine Kirby, Guillaume M. Hautbergue, Pamela J. Shaw · 2015 · Acta Neuropathologica
46. Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort
    Gijselinck, Ilse, Van Mossevelde, Sara, van der Zee, Julie, Sieben, Anne, Philtjens, Stéphanie, Heeman, Bavo, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, De Baets, Greet, Bäumer, Veerle et al. · 2015 · Neurology
47. Repeat instability during DNA repair: Insights from model systems
    Karen Usdin, Nealia C. M. House, Catherine H. Freudenreich · 2015 · Critical Reviews in Biochemistry and Molecular Biology
48. The Role of Long Noncoding RNAs in Neurodegenerative Diseases
    Peixing Wan, Wenru Su, Yehong Zhuo · 2016 · Molecular Neurobiology
49. The Evolving Landscape of Exosomes in Neurodegenerative Diseases: Exosomes Characteristics and a Promising Role in Early Diagnosis
    Simran Rastogi, Vaibhav Sharma, Prahalad Singh Bharti, Komal Rani, Gyan Prakash Modi, Fredrik K. Nikolajeff, Saroj Kumar · 2021 · International Journal of Molecular Sciences
50. Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide
    Tran, Hélène, Moazami, Michael P., Yang, Huiya, McKenna-Yasek, Diane, Douthwright, Catherine L., Pinto, Courtney, Metterville, Jake, Shin, Minwook, Sanil, Nitasha, Dooley, Craig et al. · 2022 · Nature Medicine
51. VEGF ligands and receptors: implications in neurodevelopment and neurodegeneration
    Carmeliet, Peter, de Almodovar, Carmen Ruiz · 2013 · Cellular and Molecular Life Sciences
52. Stress granules in neurodegeneration – lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma
    Eva Bentmann, Christian Haass, Dorothee Dormann · 2013 · FEBS Journal
53. ALS phenotype is influenced by age, sex, and genetics
    Adriano Chiò, Cristina Moglia, Antonio Canosa, Umberto Manera, Fabrizio D’Ovidio, Rosario Vasta, Maurizio Grassano, Maura Brunetti, Marco Barberis, Lucia Corrado et al. · 2020 · Neurology
54. Frontotemporal Dementia Associated With the C9ORF72 Mutation: A Unique Clinical Profile
    Devenney, Emma, Hornberger, Michael, Irish, Muireann, Mioshi, Eneida, Burrell, James, Tan, Rachel, Kiernan, Matthew C., Hodges, John R. · 2014 · JAMA Neurology
55. Resveratrol: A Focus on Several Neurodegenerative Diseases
    Ester Tellone, Antonio Galtieri, Annamaria Russo, Bruno Giardina, Silvana Ficarra · 2015 · Oxidative Medicine and Cellular Longevity
56. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis
    Kelly L. Williams, Sadaf T. Warraich, Shu Yang, Jennifer A. Fifita, Ruvini Fernando, Guy Armand Rouleau, Garth A. Nicholson, Ian P. Blair · 2012 · Neurobiology of Aging
57. Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia
    Sarat C. Vatsavayai, Soo Jin Yoon, Raquel C. Gardner, Tania F. Gendron, Jose Norberto S. Vargas, Andrew J. Trujillo, Mochtar Pribadi, Joanna J. Phillips, Stephanie E. Gaus, John Hixson et al. · 2016 · Brain
58. C9ORF72: What It Is, What It Does, and Why It Matters
    Julie Smeyers, Elena-Gaia Banchi, Morwena Latouche · 2021 · Frontiers in Cellular Neuroscience
59. Progranulin in neurodegenerative disease
    Terri L. Petkau, Blair R. Leavitt · 2014 · Trends in Neurosciences
60. TDP ‐43 and FUS en route from the nucleus to the cytoplasm
    Helena Ederle, Dorothee Dormann · 2017 · FEBS Letters
61. Repeat Expansion inC9ORF72in Alzheimer's Disease
    Elisa Majounie, Yevgeniya A. Abramzon, Alan Edward Renton, Rodney T. Perry, Susan Spear Bassett, Olga Pletniková, Juan Carlos Troncoso, John Hardy, Andrew Singleton, Bryan J. Traynor · 2012 · New England Journal of Medicine
62. Multiparametric MRI study of ALS stratified for the C9orf72 genotype
    Peter Bede, Arun L.W. Bokde, Susan Byrne, Marwa Elamin, Russell Lewis McLaughlin, Kevin Patrick Kenna, Andrew J Fagan, Niall P Pender, Daniel G. Bradley, Orla M. Hardiman · 2013 · Neurology
63. Cholinergic‐associated loss of hnRNP‐A/B in Alzheimer's disease impairs cortical splicing and cognitive function in mice
    Amit Berson, Shahar Barbash, Galit Shaltiel, Yael Goll, Geula Hanin, David Greenberg, Maya Ketzef, Albert J. Becker, Alon Friedman, Hermona Soreq · 2012 · EMBO Molecular Medicine
64. Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy
    Constanza J. Cortés, Shuo‐Chien Ling, Ling T. Guo, Gene Hung, Taiji Tsunemi, Linda T. Ly, Seiya Tokunaga, Edith Lopez, Bryce L. Sopher, C. Frank Bennett et al. · 2014 · Neuron
65. Extensive genetics of ALS
    Adriano Chiò, Andrea Calvo, Letizia Mazzini, Roberto M. Cantello, Gabriele Mora, Cristina Moglia, Lucia Corrado, Sandra D’Alfonso, Elisa Majounie, Alan Edward Renton et al. · 2012 · Neurology
66. The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis
    Manal A. Farg, Anna Konopka, Kai Ying Soo, Daisuke Ito, Julie D. Atkin · 2017 · Human Molecular Genetics
67. Human iPSC-derived astrocytes from ALS patients with mutated C9ORF72 show increased oxidative stress and neurotoxicity
    Anastasya Birger, Israel Ben‐Dor, Miri Ottolenghi, Tikva Tako Turetsky, Yaniv Gil, Sahar Sweetat, Liat Perez, Vitali Belzer, Natania Casden, Debora Steiner et al. · 2019 · EBioMedicine
68. Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers
    Lee, Suzee E., Sias, Ana C., Mandelli, Maria Luisa, Brown, Jesse A., Brown, Alainna B., Khazenzon, Anna M., Vidovszky, Anna A., Zanto, Theodore P., Karydas, Anna M., Pribadi, Mochtar et al. · 2017 · NeuroImage: Clinical
69. C9orf72 repeat expansions are a rare genetic cause of parkinsonism
    Lesage, Suzanne, Le Ber, Isabelle, Condroyer, Christel, Broussolle, Emmanuel, Gabelle, Audrey, Thobois, Stéphane, Pasquier, Florence, Mondon, Karl, Dion, Patrick A., Rochefort, Daniel et al. · 2013 · Brain
70. Dissection of genetic factors associated with amyotrophic lateral sclerosis
    Claire S. Leblond, Hannah Kaneb, Patrick A. Dion, Guy Armand Rouleau · 2014 · Experimental Neurology
71. The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes
    Benjamin M. Schwenk, Christina M. Lang, Sebastian Hogl, Sabina Tahirović, Denise Orozco, Kristin Rentzsch, Stefan F. Lichtenthaler, Casper C. Hoogenraad, Anja Capell, Christian Haass et al. · 2013 · The EMBO Journal
72. A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD
    Katherine E. Irwin, Pei Jasin, Kerstin E. Braunstein, Irika R. Sinha, Mark A. Garret, Kyra D. Bowden, Koping Chang, Juan Carlos Troncoso, Abhay Moghekar, Esther S. Oh et al. · 2024 · Nature Medicine
73. Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
    Marc Cruts, Ilse Gijselinck, Tim Van Langenhove, Julie van der Zee, Christine Van Broeckhoven · 2013 · Trends in Neurosciences
74. Altered microRNA expression profile in amyotrophic lateral sclerosis: a role in the regulation of NFL mRNA levels
    Danae Campos‐Melo, Cristian A. Droppelmann, Zhongping He, Kathryn Volkening, Michael Joseph Strong · 2013 · Molecular Brain
75. The microglial component of amyotrophic lateral sclerosis
    Clarke, Benjamin E, Patani, Rickie · 2020 · Brain
76. The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
    Johnathan Cooper‐Knock, Pamela J. Shaw, Janine Kirby · 2014 · Acta Neuropathologica
77. Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation
    Kohsuke Kanekura, Takuya Yagi, Alexander J. Cammack, Jana Mahadevan, Masahiko Kuroda, Matthew B. Harms, Timothy M. Miller, Fumihiko Urano · 2016 · Human Molecular Genetics
78. RNA toxicity in non‐coding repeat expansion disorders
    Bart Swinnen, Wim Robberecht, Ludo Van Den Bosch · 2019 · The EMBO Journal
79. Properties and biological impact of RNA G-quadruplexes: from order to turmoil and back
    Prakash Kharel, Gertraud Becker, В.Б. Цветков, Pavel V. Ivanov · 2020 · Nucleic Acids Research
80. A proteomic network approach across the ALS‐FTD disease spectrum resolves clinical phenotypes and genetic vulnerability in human brain
    Mfon E. Umoh, Eric B. Dammer, Jingting Dai, Duc Minh Duong, James J. Lah, Allan I. Levey, Marla Gearing, Jonathan D. Glass, Nicholas T. Seyfried · 2017 · EMBO Molecular Medicine
81. Disrupted neuronal trafficking in amyotrophic lateral sclerosis
    Burk, Katja, Pasterkamp, R. Jeroen · 2019 · Acta Neuropathologica
82. SOD1 in Amyotrophic Lateral Sclerosis: “Ambivalent” Behavior Connected to the Disease
    Orietta Pansarasa, Matteo Bordoni, Luca Diamanti, Daisy Sproviero, Stella Gagliardi, Cristina Cereda · 2018 · International Journal of Molecular Sciences
83. p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)
    Maya Maor-Nof, Zohar Shipony, Rodrigo Lopez-Gonzalez, Lisa Nakayama, Yong‐Jie Zhang, Julien Couthouis, Jacob A. Blum, Patricia A. Castruita, Gabriel R. Linares, Kai Ruan et al. · 2021 · Cell
84. Peripheral monocytes are functionally altered and invade the CNS in ALS patients
    Zondler, Lisa, Müller, Kathrin, Khalaji, Samira, Bliederhäuser, Corinna, Ruf, Wolfgang P., Grozdanov, Veselin, Thiemann, Meinolf, Fundel-Clemes, Katrin, Freischmidt, Axel, Holzmann, Karlheinz et al. · 2016 · Acta Neuropathologica
85. C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia
    Yoshitsugu Aoki, Raquel Manzano, Yi Lee, Ruxandra Dafinca, Misako Aoki, Andrew G. L. Douglas, Miguel A. Varela, Chaitra Sathyaprakash, Jakub Scaber, Paola Barbagallo et al. · 2017 · Brain
86. TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP
    Diana Arseni, Renren Chen, Alexey G. Murzin, Sew‐Yeu Peak‐Chew, Holly J. Garringer, Kathy L. Newell, Fuyuki Kametani, Andrew Robinson, Rubén Vidal, Bernardino Francesco Ghetti et al. · 2023 · Nature
87. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion
    S. E. Lee, Anna M. Khazenzon, Andrew J. Trujillo, Christine Cong Guo, Jennifer S. Yokoyama, Sharon J. Sha, Leonel Tadao Takada, Anna M. Karydas, Nikolas Block, Giovanni Coppola et al. · 2014 · Brain
88. Caregiver burden in amyotrophic lateral sclerosis is more dependent on patients’ behavioral changes than physical disability: a comparative study
    Patricia Lillo, Eneida Mioshi, John R. Hodges · 2012 · BMC Neurology
89. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p
    Heather G. Stewart, Nicola J. Rutherford, Hannah Briemberg, Charles Krieger, Neil R. Cashman, Marife Fabros, Matt C. Baker, Alice Fok, Mariely DeJesus‐Hernandez, Andrew Eisen et al. · 2012 · Acta Neuropathologica
90. Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum
    Yalda Baradaran‐Heravi, Christine Van Broeckhoven, Julie van der Zee · 2019 · Neurobiology of Disease
91. G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD
    Coyne, Alyssa N., Zaepfel, Benjamin L., Hayes, Lindsey, Fitchman, Boris, Salzberg, Yuval, Luo, En-Ching, Bowen, Kelly, Trost, Hannah, Aigner, Stefan, Rigo, Frank et al. · 2020 · Neuron
92. Rodent models of amyotrophic lateral sclerosis
    Philip McGoldrick, Peter I. Joyce, Elizabeth Fisher, Linda Greensmith · 2013 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
93. Lifetime physical activity and the risk of amyotrophic lateral sclerosis
    Huisman, M. H. B., Seelen, M., de Jong, S. W., Dorresteijn, K. R. I. S., van Doormaal, P. T. C., van der Kooi, A. J., de Visser, M., Schelhaas, H. J., van den Berg, L. H., Veldink, J. H. · 2013 · Journal of Neurology, Neurosurgery & Psychiatry
94. Genetics of Frontotemporal Dementia
    Diana A. Olszewska, Róisín Lonergan, Emer Fallon, Timothy Lynch · 2016 · Current Neurology and Neuroscience Reports
95. Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72
    Laflamme, Carl, McKeever, Paul M, Kumar, Rahul, Schwartz, Julie, Kolahdouzan, Mahshad, Chen, Carol X, You, Zhipeng, Benaliouad, Faiza, Gileadi, Opher, McBride, Heidi M et al. · 2019 · eLife
96. Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis
    Khrista Boylan, Jonathan D. Glass, Julia E. Crook, Cui Yang, Colleen S. Thomas, Pamela Desaro, Amelia Johnston, Karen Overstreet, Crystal Marie Kelly, Meraida A. Polak et al. · 2012 · Journal of Neurology Neurosurgery & Psychiatry
97. Astrocytes and Microglia as Non-cell Autonomous Players in the Pathogenesis of ALS
    Jung-Hee Lee, Seung Jae Hyeon, Hyeonjoo Im, Hyun Ryu, Yunha Kim, Hoon Ryu · 2016 · Experimental Neurobiology
98. A genomic view of short tandem repeats
    Melissa Gymrek · 2017 · Current Opinion in Genetics & Development
99. Genetics of FTLD : overview and what else we can expect from genetic studies
    Pottier, Cyril, Ravenscroft, Thomas A., Sanchez‐Contreras, Monica, Rademakers, Rosa · 2016 · Journal of Neurochemistry
100. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
     Marka van Blitterswijk, Bianca Mullen, Alexandra M. Nicholson, Kevin F. Bieniek, Michael G. Heckman, Matthew Baker, Mariely DeJesus‐Hernandez, NiCole A. Finch, Patricia H. Brown, Melissa Erin Murray et al. · 2014 · Acta Neuropathologica