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

Renton, Alan E., Majounie, Elisa, Waite, Adrian, Simón-Sánchez, Javier, Rollinson, Sara, Gibbs, J. Raphael, Schymick, Jennifer C., Laaksovirta, Hannu +68 more·2011·Neuron

Cited by (1,041)

Items 501–600 of 1,041

  1. ALS skeletal muscle shows enhanced TGF-β signaling, fibrosis and induction of fibro/adipogenic progenitor markers
    David González, Osvaldo Contreras, Daniela L. Rebolledo, Juan Pablo Espinoza, Brigitte van Zundert, Enrique Brandan · 2017 · PLoS ONE
  2. Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
    Jenny Russ, Elaine Y. Liu, Kathryn Wu, Donald Neal, EunRan R. Suh, David John Irwin, Corey T. McMillan, Matthew B. Harms, Nigel J. Cairns, Elisabeth McCarty Wood et al. · 2014 · Acta Neuropathologica
  3. Inside out: the role of nucleocytoplasmic transport in ALS and FTLD
    Steven Boeynaems, Elke Bogaert, Philip Van Damme, Ludo Van Den Bosch · 2016 · Acta Neuropathologica
  4. Relationship between C9orf72 repeat size and clinical phenotype
    Sara Van Mossevelde, Julie van der Zee, Marc Cruts, Christine Van Broeckhoven · 2017 · Current Opinion in Genetics & Development
  5. RNP-Granule Assembly via Ataxin-2 Disordered Domains Is Required for Long-Term Memory and Neurodegeneration
    Baskar Bakthavachalu, Joern Huelsmeier, Indulekha P. Sudhakaran, Jens Hillebrand, Amanjot Singh, Arnas Petrauskas, Devasena Thiagarajan, M. Sankaranarayanan, Laura S. Mizoue, Eric Nathaniel Anderson et al. · 2018 · Neuron
  6. Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology
    Alissa L. Nana, Manu Sidhu, Stephanie E. Gaus, Jihye Hwang, Libo Li, Yongsoon Park, Eun Joo Kim, Lorenzo Pasquini, Isabel Elaine Allen, Katherine P. Rankin et al. · 2018 · Acta Neuropathologica
  7. Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis
    Arpan R. Mehta, Jenna M. Gregory, Owen Dando, Roderick N. Carter, Karen Burr, Jyoti Nanda, David Story, Karina McDade, Colin Smith, Nicholas M. Morton et al. · 2021 · Acta Neuropathologica
  8. The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS)
    Boddy, Sarah L., Giovannelli, Ilaria, Sassani, Matilde, Cooper-Knock, Johnathan, Snyder, Michael P., Segal, Eran, Elinav, Eran, Barker, Lynne A., Shaw, Pamela J., McDermott, Christopher J. · 2021 · BMC Medicine
  9. What causes neurodegenerative disease?
    Richard A. Armstrong · 2020 · Folia Neuropathologica
  10. An MND/ALS phenotype associated with <i>C9orf72</i> repeat expansion: Abundant p62‐positive, TDP‐43‐negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
    Troakes, Claire, Maekawa, Satomi, Wijesekera, Lokesh, Rogelj, Boris, Siklós, László, Bell, Christopher, Smith, Bradley, Newhouse, Stephen, Vance, Caroline, Johnson, Lauren et al. · 2012 · Neuropathology
  11. Repeat‐associated non‐AUG translation in C9orf72‐ALS/FTD is driven by neuronal excitation and stress
    Thomas Westergard, Kevin McAvoy, Katelyn A. Russell, Xinmei Wen, Yu Pang, Brandie Morris Verdone, Piera Pasinelli, Davide Trotti, Aaron R. Haeusler · 2019 · EMBO Molecular Medicine
  12. Rodent models of TDP-43: Recent advances
    William Tsao, Yun Ha Jeong, Sophie Z. Lin, Jonathan P. Ling, Donald L. Price, Po‐Min Chiang, Philip C. Wong · 2012 · Brain Research
  13. Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)
    Serena Lattante, Sorana Ciura, Guy Armand Rouleau, Edor Kabashi · 2015 · Trends in Genetics
  14. The ubiquitin proteasome system in neurodegenerative diseases: Culprit, accomplice or victim?
    Frank J.A. Dennissen, Natalia Kholod, Fred W. van Leeuwen · 2012 · Progress in Neurobiology
  15. Genetic screening in sporadic ALS and FTD
    Martin R. Turner, Ammar Al‐Chalabi, Adriano Chiò, Orla M. Hardiman, Matthew C. Kiernan, Jonathan Daniel Rohrer, James Benedict Rowe, William W. Seeley, Kevin Talbot · 2017 · Journal of Neurology Neurosurgery & Psychiatry
  16. Comprehensive analysis of the mutation spectrum in 301 German ALS families
    Kathrin Müller, Dávid Brenner, Patrick Weydt, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Großkreutz, Joachim Schuster, Alexander Erich Volk, Guntram Borck et al. · 2018 · Journal of Neurology Neurosurgery & Psychiatry
  17. The Role of RNA Binding Proteins for Local mRNA Translation: Implications in Neurological Disorders
    Maximilian Paul Thelen, Min Jeong Kye · 2020 · Frontiers in Molecular Biosciences
  18. Endosomal Dysfunction Induced by Directly Overactivating Rab5 Recapitulates Prodromal and Neurodegenerative Features of Alzheimer’s Disease
    Anna Pensalfini, Seonil Kim, Shivakumar Subbanna, Cynthia Bleiwas, Chris N. Goulbourne, Philip H. Stavrides, Ying Jiang, Ju‐Hyun Lee, Sandipkumar Darji, Monika Pawlik et al. · 2020 · Cell Reports
  19. TDP ‐43 binds and transports G ‐quadruplex‐containing m RNA s into neurites for local translation
    Akira Ishiguro, Nobuyuki Kimura, Yuto Watanabe, Sumiko Watanabe, Akira Ishihama · 2016 · Genes to Cells
  20. Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
    Ghazi-Noori, Shabnam, Froud, Kristina E., Mizielinska, Sarah, Powell, Caroline, Smidak, Michelle, Fernandez de Marco, Mar, O’Malley, Catherine, Farmer, Michael, Parkinson, Nick, Fisher, Elizabeth M. C. et al. · 2012 · Brain
  21. TMEM 106B p.T185S regulates TMEM 106B protein levels: implications for frontotemporal dementia
    Alexandra M. Nicholson, NiCole A. Finch, Aleksandra Wojtas, Matt C. Baker, Ralph B. Perkerson, Monica Castanedes‐Casey, Linda Rousseau, Luisa Benussi, Giuliano Gb. Binetti, Roberta Ghidoni et al. · 2013 · Journal of Neurochemistry
  22. The Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen: A cross-sectional comparison of established screening tools in a German-Swiss population
    Dorothée E. Lulé, Christian Burkhardt, Susanne Abdulla, Sarah Böhm, Katja Kollewe, Ingo Uttner, Sharon Abrahams, Thomas H. Bak, Susanne Petri, Markus Weber et al. · 2014 · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
  23. C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels
    Jimmy Beckers, Arun Kumar Tharkeshwar, Philip Van Damme · 2021 · Autophagy
  24. Frontotemporal Dementia, Where Do We Stand? A Narrative Review
    Annibale Antonioni, Emanuela Maria Raho, Piervito Lopriore, Antonia Pia Pace, Raffaela Rita Latino, Martina Assogna, Michelangelo Mancuso, Daniela Gragnaniello, Enrico Granieri, Maura Pugliatti et al. · 2023 · International Journal of Molecular Sciences
  25. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72
    Marka van Blitterswijk, Tania F. Gendron, Matthew Baker, Mariely DeJesus‐Hernandez, NiCole A. Finch, Patricia H. Brown, Lillian M. Daughrity, Melissa Erin Murray, Michael G. Heckman, Jie Jiang et al. · 2015 · Acta Neuropathologica
  26. Presymptomatic studies in ALS
    Michael G Benatar, Joanne Wuu · 2012 · Neurology
  27. Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia
    Alberto Benussi, Alessandro Padovani, Barbara Borroni · 2015 · Frontiers in Aging Neuroscience
  28. Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology
    Chen Ning Zhao, Anna‐Claire Devlin, Amit K. Chouhan, Bhuvaneish Thangaraj Selvaraj, Maria Stavrou, Karen Burr, Veronica Brivio, Xin He, Arpan R. Mehta, David Story et al. · 2019 · Glia
  29. CNS glucose metabolism in Amyotrophic Lateral Sclerosis: a therapeutic target?
    Tesfaye Wolde Tefera, Frederik J. Steyn, Shyuan Thieu Ngo, Karin Borges · 2021 · Cell & Bioscience
  30. Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin
    Benôıt Marin, Giancarlo Logroscino, Farid Boumédiène, Anaïs Labrunie, Philippe Couratier, Marie‐Claude Babron, Anne‐Louise Leutenegger, Pierre‐Marie Preux, Ettore Beghi · 2015 · European Journal of Epidemiology
  31. Diagnosis and Management of Behavioral Variant Frontotemporal Dementia
    Peter Pressman, Bruce L. Miller · 2013 · Biological Psychiatry
  32. Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients
    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 et al. · 2017 · Human Molecular Genetics
  33. Ligand-induced native G-quadruplex stabilization impairs transcription initiation
    Conghui Li, Honghong Wang, Zhinang Yin, Pingping Fang, Ruijing Xiao, Ying Xiang, Wen Wang, Qiuzi Li, Beili Huang, Jian Huang et al. · 2021 · Genome Research
  34. Parkinsonism, movement disorders and genetics in frontotemporal dementia
    Baizabal-Carvallo, José Fidel, Jankovic, Joseph · 2016 · Nature Reviews Neurology
  35. C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis
    Frank P. Diekstra, Vivianna M. Van Deerlin, John Cornelis Van Swieten, Ammar Al‐Chalabi, Albert Christian Ludolph, Jochen Hans Weishaupt, Orla M. Hardiman, John E. Landers, Robert H. Brown, Michael A. van Es et al. · 2014 · Annals of Neurology
  36. Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease
    José Brás, Rita João Guerreiro, John Hardy · 2012 · Nature reviews. Neuroscience
  37. Inhibition of Fast Axonal Transport by Pathogenic SOD1 Involves Activation of p38 MAP Kinase
    Gerardo A. Morfini, Daryl A. Bosco, Hannah E. Brown, Rodolfo G. Gatto, Agnieszka Kamińska, Yuyu Song, Linda Molla, Lisa M. Baker, Natalia Marangoni, Sarah H. Berth et al. · 2013 · PLoS ONE
  38. Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts
    Nicholas J. Kramer, Yari Carlomagno, Yong‐Jie Zhang, Sandra Almeida, Casey N. Cook, Tania F. Gendron, Mercedes Prudencio, Marka van Blitterswijk, Véronique Belzil, Julien Couthouis et al. · 2016 · Science
  39. Neuroprotection in Oxidative Stress-Related Neurodegenerative Diseases: Role of Endocannabinoid System Modulation
    János Pálóczi, Zoltán V. Varga, George Hasko, Pál Pacher · 2017 · Antioxidants and Redox Signaling
  40. Linking hnRNP Function to ALS and FTD Pathology
    Maria D. Purice, J. Paul Taylor · 2018 · Frontiers in Neuroscience
  41. Frontotemporal dementia: a bridge between dementia and neuromuscular disease
    Adeline Su Lyn Ng, Rosa Rademakers, Bruce L. Miller · 2014 · Annals of the New York Academy of Sciences
  42. Clinical and genetic heterogeneity of amyotrophic lateral sclerosis
    Mario Sabatelli, Antonella Conte, Marcella Zollino · 2013 · Clinical Genetics
  43. Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD
    Angelica Nordin, Chizuru Akimoto, Anna Wuolikainen, Helena Alstermark, Pär Jonsson, Anna Birve, Stefan L. Marklund, Karin S. Graffmo, Karin Forsberg, Thomas Brännström et al. · 2015 · Human Molecular Genetics
  44. Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease
    M. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen R. Jansen-West, Tania F. Gendron, Mercedes Prudencio, I. McLaughlin, Brett N. Bowman, Matthew G. Seetin, M. Dejesus-Hernandez et al. · 2018 · Molecular Neurodegeneration
  45. Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images
    Jennifer Louise Whitwell, Bradley F. Boeve, Stephen D. Weigand, Matthew L. Senjem, Jeffrey L. Gunter, Matthew Baker, Mariely DeJesus‐Hernandez, D. S. Knopman, Zbignew K. Wszolek, Ronald Carl Petersen et al. · 2015 · European Journal of Neurology
  46. Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation
    Daniela Galimberti, Chiara Fenoglio, María Serpente, Chiara Villa, Rossana Bonsi, Andrea Arighi, Giorgio Fumagalli, Roberto Del Bo, Amalia Cecilia Bruni, Maria Anfossi et al. · 2013 · Biological Psychiatry
  47. Psychiatric Symptoms in Frontotemporal Dementia: Epidemiology, Phenotypes, and Differential Diagnosis
    Daniela Galimberti, Bernardo Maria Dell’Osso, A. Carlo Altamura, Elio Angelo Scarpini · 2015 · Biological Psychiatry
  48. Autophagosome dynamics in neurodegeneration at a glance
    Yvette C. Wong, Erika L.F. Holzbaur · 2015 · Journal of Cell Science
  49. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
    Wouter van Rheenen, Marka van Blitterswijk, Mark H.B. Huisman, Lotte Vlam, Perry T.C. van Doormaal, Meinie Seelen, Jelena Medic, Dennis Dooijes, Marianne de Visser, Anneke J. van der Kooi et al. · 2012 · Neurology
  50. The Neuromuscular Junction: Roles in Aging and Neuromuscular Disease
    Shama R. Iyer, Sameer B. Shah, Richard M. Lovering · 2021 · International Journal of Molecular Sciences
  51. The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement
    Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan et al. · 2012 · The American Journal of Human Genetics
  52. Protein Kinase CK-1 Inhibitors As New Potential Drugs for Amyotrophic Lateral Sclerosis
    Irene G. Salado, Miriam Redondo, Murilo Lamim Bello, Concepción Pérez, Nicole F. Liachko, Brian C. Kraemer, Laëtitia Miguel, Magalie Lecourtois, Carmen Gil, Ana Martı́nez et al. · 2014 · Journal of Medicinal Chemistry
  53. Detection of structural variants and indels within exome data
    Emre Karakoç, Can Alkan, Brian J. O’Roak, Megan Y. Dennis, Laura Vives, Kenneth M. K. Mark, Mark J. Rieder, Debbie A. Nickerson, Evan E. Eichler · 2011 · Nature Methods
  54. Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy
    Łukasz J. Sznajder, Maurice S. Swanson · 2019 · International Journal of Molecular Sciences
  55. Diseases of the nERVous system: retrotransposon activity in neurodegenerative disease
    Oliver H. Tam, Lyle W. Ostrow, Molly Hammell · 2019 · Mobile DNA
  56. The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis
    Alexander Bampton, Lauren M. Gittings, Pietro Fratta, Tammaryn Lashley, Ariana P. Gatt · 2020 · Acta Neuropathologica
  57. Nuclear Import Receptors Directly Bind to Arginine-Rich Dipeptide Repeat Proteins and Suppress Their Pathological Interactions
    Saskia Hutten, Sinem Usluer, Benjamin M. R. Bourgeois, Francesca Simonetti, Hana M. Odeh, Charlotte M. Fare, Mareike Czuppa, Marián Hruška-Plocháň, Mario Hofweber, Magdalini Polymenidou et al. · 2020 · Cell Reports
  58. STING trafficking as a new dimension of immune signaling
    Devon Jeltema, Kennady Abbott, Nan Yan · 2023 · The Journal of Experimental Medicine
  59. RNA methylation influences TDP43 binding and disease pathogenesis in models of amyotrophic lateral sclerosis and frontotemporal dementia
    McMillan, Michael, Gomez, Nicolas, Hsieh, Caroline, Bekier, Michael, Li, Xingli, Miguez, Roberto, Tank, Elizabeth M.H., Barmada, Sami J. · 2023 · Molecular Cell
  60. Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS
    Jacqueline C. Mitchell, Remy Constable, Eva So, Caroline A. Vance, Emma L. Scotter, Leanne Glover, Tibor Hortobágyi, Eveline S. Arnold, Shuo‐Chien Ling, Melissa McAlonis‐Downes et al. · 2015 · Acta Neuropathologica Communications
  61. The ER mitochondria calcium cycle and ER stress response as therapeutic targets in amyotrophic lateral sclerosis
    Vedrana Tadić, Tino Prell, Janin Lautenschläger, Julian Großkreutz · 2014 · Frontiers in Cellular Neuroscience
  62. Mouse models of ALS: Past, present and future
    Cathleen M. Lutz · 2018 · Brain Research
  63. Contribution of astrocytes to neuropathology of neurodegenerative diseases
    Çiğdem Acıoğlu, Lun Li, Stella Elkabes · 2021 · Brain Research
  64. Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting – a 12-month multicenter cohort study from the German early access program
    Maximilian Wiesenfarth, Johannes Dorst, Dávid Brenner, Zeynep G. Elmas, Özlem Parlak, Željko Uzelac, Katharina Kandler, Kristina Mayer, Ulrike Weiland, Christine H. Herrmann et al. · 2024 · EClinicalMedicine
  65. Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
    Shepheard, Stephanie R, Parker, Matthew D, Cooper-Knock, Johnathan, Verber, Nick S, Tuddenham, Lee, Heath, Paul, Beauchamp, Nick, Place, Elsie, Sollars, Elizabeth S A, Turner, Martin R et al. · 2021 · Journal of Neurology, Neurosurgery &amp; Psychiatry
  66. Reduced CSF p-Tau <sub>181</sub> to Tau ratio is a biomarker for FTLD-TDP
    Hu, William T., Watts, Kelly, Grossman, Murray, Glass, Jonathan, Lah, James J., Hales, Chadwick, Shelnutt, Matthew, Van Deerlin, Vivianna, Trojanowski, John Q., Levey, Allan I. · 2013 · Neurology
  67. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
    Carol Dobson‐Stone, Marianne Hallupp, Lauren Bartley, Claire E. Shepherd, Glenda Margaret Halliday, Peter R. Schofield, John R. Hodges, John B. Kwok · 2012 · Neurology
  68. Barcoding heat shock proteins to human diseases: looking beyond the heat shock response
    Vaishali Kakkar, Melanie Meister-Broekema, Melania Minoia, Serena Carra, Harm H. Kampinga · 2014 · Disease Models & Mechanisms
  69. Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
    Yvonne S. Davidson, Holly Barker, Andrew Robinson, J. C. Thompson, Jenny Harris, Claire Troakes, Bradley N. Smith, Safa Al‐Saraj, Christopher E. Shaw, Sara J. Rollinson et al. · 2014 · Acta Neuropathologica Communications
  70. Reappraisal of TDP-43 pathology in FTLD-U subtypes
    Ian R. Mackenzie, Manuela Neumann · 2017 · Acta Neuropathologica
  71. Identification of Therapeutic Targets for Amyotrophic Lateral Sclerosis Using PandaOmics – An AI-Enabled Biological Target Discovery Platform
    Pun, Frank W., Liu, Bonnie Hei Man, Long, Xi, Leung, Hoi Wing, Leung, Geoffrey Ho Duen, Mewborne, Quinlan T., Gao, Junli, Shneyderman, Anastasia, Ozerov, Ivan V., Wang, Ju et al. · 2022 · Frontiers in Aging Neuroscience
  72. Frontotemporal lobar degeneration: current perspectives
    Alexander Kurz, Lina Riedl, Ian R. Mackenzie, Hans Förstl, Janine Diehl‐Schmid · 2014 · Neuropsychiatric Disease and Treatment
  73. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
    Annabelle Chaussenot, Isabelle Le Ber, Samira Ait-El-Mkadem, Agnès Camuzat, Anne Langlois de Septenville, Sylvie Bannwarth, Emmanuelle C. Genin, Valérie Serre, Gaëlle Augé, Alexis Brice et al. · 2014 · Neurobiology of Aging
  74. What causes amyotrophic lateral sclerosis?
    Sarah Opie-Martin, Ahmad Al Khleifat, Ammar Al‐Chalabi · 2017 · F1000Research
  75. The Hairpin Form of r(G4C2)exp in c9ALS/FTD Is Repeat-Associated Non-ATG Translated and a Target for Bioactive Small Molecules
    Zi-Fu Wang, Andrei Ursu, Jessica L. Childs‐Disney, Rea Guertler, Wang-Yong Yang, Viachaslau Bernat, Suzanne G. Rzuczek, Rita Fuerst, Yong‐Jie Zhang, Tania F. Gendron et al. · 2018 · Cell chemical biology
  76. The involvement of stress granules in aging and aging‐associated diseases
    Xiuling Cao, Xuejiao Jin, Beidong Liu · 2020 · Aging Cell
  77. Frontotemporal Dementias
    Elizabeth C. Finger · 2016 · CONTINUUM Lifelong Learning in Neurology
  78. Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions
    Mahoney, Colin J, Downey, Laura E, Ridgway, Gerard R, Beck, Jon, Clegg, Shona, Blair, Melanie, Finnegan, Sarah, Leung, Kelvin K, Yeatman, Tom, Golden, Hannah et al. · 2012 · Alzheimer's Research &amp; Therapy
  79. Amyotrophic lateral sclerosis: Current perspectives from basic research to the clinic
    Renzo Mancuso, Xavier Navarro · 2015 · Progress in Neurobiology
  80. Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders
    John Douglas Cleary, Laura P.W. Ranum · 2014 · Current Opinion in Genetics & Development
  81. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease
    Serena Lattante, Amelia Conte, Marcella Zollino, Marco Luigetti, Alessandra Del Grande, Giuseppe Marangi, Ângela Romano, Alessandro Marcaccio, Emiliana Meleo, Giulia Bisogni et al. · 2012 · Neurology
  82. ALS biomarkers for therapy development: State of the field and future directions
    Michael G Benatar, Khrista Boylan, Andreas Jeromin, Seward B. Rutkove, James D. Berry, Nazem Atassi, Lucie I. Bruijn · 2015 · Muscle & Nerve
  83. Transcranial Magnetic Stimulation for the Assessment of Neurodegenerative Disease
    Steve Vucic, Matthew C. Kiernan · 2016 · Neurotherapeutics
  84. Protective paraspeckle hyper-assembly downstream of TDP-43 loss of function in amyotrophic lateral sclerosis
    Tatyana A. Shelkovnikova, Michail S. Kukharsky, Haiyan An, Pasquale Dimasi, Svetlana Alexeeva, Osman Shabir, Paul Roy Heath, Vladimir L. Buchman · 2018 · Molecular Neurodegeneration
  85. Nuclear poly(ADP-ribose) activity is a therapeutic target in amyotrophic lateral sclerosis
    Leeanne McGurk, Jelena Mojsilovic‐Petrovic, Vivianna M. Van Deerlin, James Shorter, Robert Gordon Kalb, V. M. Lee, John Q. Trojanowski, E. B. Lee, Nancy M. Bonini · 2018 · Acta Neuropathologica Communications
  86. Disease-modifying therapies in amyotrophic lateral sclerosis
    Adriano Chiò, Letizia Mazzini, Gabriele Mora · 2020 · Neuropharmacology
  87. Patterns of microglial cell activation in frontotemporal lobar degeneration
    Lant, Suzannah B., Robinson, Andrew C., Thompson, Jennifer C., Rollinson, Sara, Pickering‐Brown, Stuart, Snowden, Julie S., Davidson, Yvonne S., Gerhard, Alexander, Mann, David M. A. · 2014 · Neuropathology and Applied Neurobiology
  88. Nuclear accumulation of mRNAs underlies G4C2 repeat-induced translational repression in a cellular model of C9orf72 ALS
    Simona Rossi, Alessia Serrano, Valeria Gerbino, Alessandra Giorgi, Laura Di Francesco, Monica Nencini, Francesca Bozzo, Maria Eugenia Schininà, Claudia Bagni, Gianluca Cestra et al. · 2015 · Journal of Cell Science
  89. Protein folding alterations in amyotrophic lateral sclerosis
    Sonam Parakh, Julie D. Atkin · 2016 · Brain Research
  90. Tdp-43 cryptic exons are highly variable between cell types
    Yun Ha Jeong, Jonathan P. Ling, Sophie Z. Lin, Aneesh Donde, Kerstin E. Braunstein, Elisa Majounie, Bryan J. Traynor, Katherine D. LaClair, Thomas E. Lloyd, Philip C. Wong · 2017 · Molecular Neurodegeneration
  91. Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia
    Janet H. T. Song, Craig B. Lowe, David M. Kingsley · 2018 · The American Journal of Human Genetics
  92. Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF 72‐associated amyotrophic lateral sclerosis
    Tania F. Gendron, Lillian M. Daughrity, Michael G. Heckman, Nancy N. Diehl, Joanne Wuu, Timothy M. Miller, Pau Pástor, John Q. Trojanowski, Murray Grossman, James D. Berry et al. · 2017 · Annals of Neurology
  93. Amyotrophic Lateral Sclerosis: A Neurodegenerative Motor Neuron Disease With Ocular Involvement
    Pilar Rojas, Ana Isabel Ramirez, José A. Fernández‐Albarral, Inés López‐Cuenca, Elena Salobrar‐García, Manuel Cadena, Lorena Elvira‐Hurtado, Juan Jose Salazar, Rosa de Hoz, Jose Manuel Ramirez · 2020 · Frontiers in Neuroscience
  94. miR-338-3p is over-expressed in blood, CFS, serum and spinal cord from sporadic amyotrophic lateral sclerosis patients
    Bruna De Felice, Anna Annunziata, Giuseppe Fiorentino, Marco Borra, Elio Biffali, Cinzia Coppola, Roberto Cotrufo, Johannes Brettschneider, Maria Luisa Giordana, Tamás Dalmay et al. · 2014 · Neurogenetics
  95. Investigation of C9orf72 in 4 Neurodegenerative Disorders
    Zhengrui Xi, Lorne H. Zinman, Yakov Grinberg, Danielle Moreno, Christine Sato, Juan M. Bilbao, Mahdi Ghani, Isabel Hernández, Agustı́n Ruiz, Merçé Boada et al. · 2012 · Archives of Neurology
  96. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
    Oriol Dols‐Icardo, Alberto García‐Redondo, Ricard Rojas‐García, Raquel Sánchez‐Valle, A. Noguera, Estrella Gómez‐Tortosa, Pau Pástor, I. Hernandez, Jesús Esteban‐Pérez, Marc Suárez‐Calvet et al. · 2013 · Human Molecular Genetics
  97. Membrane Trafficking in Autophagy
    Kristiane Søreng, Thomas P. Neufeld, Anne Simonsen · 2017 · International review of cytology
  98. Autophagy as a common pathway in amyotrophic lateral sclerosis
    Dao K.H. Nguyen, Ravi Thombre, Jiou Wang · 2018 · Neuroscience Letters
  99. Cannabinoid pharmacology/therapeutics in chronic degenerative disorders affecting the central nervous system
    Maria S. Aymerich, Ester Aso, Miguel Angel Abellanas, Rosa Maria Tolón, José Antonio Ramos, Isidró Ferrer, Julián Romero, Javier Fernández‐Ruíz · 2018 · Biochemical Pharmacology
  100. Advances in molecular pathology, diagnosis, and treatment of amyotrophic lateral sclerosis
    Ilieva, Hristelina, Vullaganti, Mithila, Kwan, Justin · 2023 · BMJ