556
Views
40
CrossRef citations to date
0
Altmetric
Brief Report

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

, , , &
Pages 148-150 | Received 17 Jul 2013, Accepted 22 Aug 2013, Published online: 23 Sep 2013

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (5)

Carlo Maj, Giuseppe Augusto Chiarenza, Stephen V. Faraone, Ciani Miriam, Massimo Gennarelli, Cristian Bonvicini & Catia Scassellati. (2021) Intermediate lengths of the C9ORF72 hexanucleotide repeat expansion may synergistically contribute to attention deficit hyperactivity disorder in child and his father: case report. Neurocase 27:2, pages 138-146.
Read now
Ashley Crook, Alison McEwen, Jennifer A. Fifita, Katharine Zhang, John B. Kwok, Glenda Halliday, Ian P. Blair & Dominic B. Rowe. (2019) The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20:5-6, pages 310-316.
Read now
Xinglong Yang, Quanzhen Zhao, Ran An, Jinhua Zheng, Sijia Tian & Yanming Xu. (2016) Association of the functional SNP rs2275294 in ZNF512B with risk of amyotrophic lateral sclerosis and Parkinson's disease in Han Chinese. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17:1-2, pages 142-147.
Read now
Laura Alías, Sara Bernal, Maria J. Barceló, Rebeca Martínez-Hernández, Elisabeth Martínez, Montserrat Baiget & Eduardo F. Tizzano. (2014) Analysis of the C9orf72 gene in spinal muscular atrophy patients. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 15:7-8, pages 563-568.
Read now

Articles from other publishers (35)

Ye Teng, Ming Zhu & Zhidong Qiu. (2023) G-Quadruplexes in Repeat Expansion Disorders. International Journal of Molecular Sciences 24:3, pages 2375.
Crossref
Ana Marjanovic, Aleksa Palibrk, Valerija Dobricic, Ognjen MilicevicMarija Brankovic, Vanja Viric, Aleksandra Drinic, Gorana Mandic-Stojmenovic, Milena Jankovic, Ivana Basta, Stojan Peric, Ivana Novakovic, Elka Stefanova & Zorica Stevic. (2023) C9orf72 genetic screening in amyotrophic lateral sclerosis patients from Serbia. Genetika ABI Genetika 55:1, pages 1-18.
Crossref
Pegah Masrori, Jimmy Beckers, Helena Gossye & Philip Van Damme. (2022) The role of inflammation in neurodegeneration: novel insights into the role of the immune system in C9orf72 HRE-mediated ALS/FTD. Molecular Neurodegeneration 17:1.
Crossref
Lu Tang, Lu Chen, Xiaolu Liu, Ji He, Yan Ma, Nan Zhang & Dongsheng Fan. (2022) The repeat length of C9orf72 is associated with the survival of amyotrophic lateral sclerosis patients without C9orf72 pathological expansions. Frontiers in Neurology 13.
Crossref
Ana Marjanovic, Valerija Dobricic, Milica Jecmenica-Lukic, Iva Stankovic, Ognjen Milicevic, Natasa Dragasevic-Miskovic, Marija Brankovic, Milena Jankovic, Ivana Novakovic, Marina Svetel, Elka Stefanova & Vladimir Kostic. (2022) C9ORF72 repeat expansion is not associated with atypical parkinsonism in the Serbian population. Genetika ABI Genetika 54:3, pages 1313-1330.
Crossref
Stacey Li Hi Shing, Mary Clare McKenna, We Fong Siah, Rangariroyashe H. Chipika, Orla Hardiman & Peter Bede. (2021) The imaging signature of C9orf72 hexanucleotide repeat expansions: implications for clinical trials and therapy development. Brain Imaging and Behavior 15:5, pages 2693-2719.
Crossref
Yi-Ju Tseng, Siara N. Sandwith, Katelyn M. Green, Antonio E. Chambers, Amy Krans, Heather M. Raimer, Meredith E. Sharlow, Michael A. Reisinger, Adam E. Richardson, Eric D. Routh, Melissa A. Smaldino, Yuh-Hwa Wang, James P. Vaughn, Peter K. Todd & Philip J. Smaldino. (2021) The RNA helicase DHX36–G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat–associated translation. Journal of Biological Chemistry 297:2, pages 100914.
Crossref
Maria Serpente, Chiara Fenoglio, Andrea Arighi, Giorgio G. Fumagalli, Marina Arcaro, Federica Sorrentino, Caterina Visconte, Elio Scarpini & Daniela Galimberti. (2021) Analysis of C9orf72 Intermediate Alleles in a Retrospective Cohort of Neurological Patients: Risk Factors for Alzheimer’s Disease?. Journal of Alzheimer's Disease 81:4, pages 1445-1451.
Crossref
Patrick Vourc’h, François Wurmser, Céline Brulard, Kevin Mouzat, Sandra Kassem, Audrey Dangoumau, Frédéric Laumonnier, Hélène Blasco, Philippe Corcia & Christian R. Andres. (2021) Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome. Neurobiology of Aging 97, pages 148.e1-148.e7.
Crossref
Anusha Chaudhuri, Subhadeep Das & Biswadip Das. (2020) Localization elements and zip codes in the intracellular transport and localization of messenger RNAs in Saccharomyces cerevisiae . WIREs RNA 11:4.
Crossref
Kyle J. Trageser, Chad Smith, Francis J. Herman, Kenjiro Ono & Giulio Maria Pasinetti. (2019) Mechanisms of Immune Activation by c9orf72-Expansions in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Frontiers in Neuroscience 13.
Crossref
Alfredo Iacoangeli, Ahmad Al Khleifat, Ashley R. Jones, William Sproviero, Aleksey Shatunov, Sarah Opie-Martin, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Isabella Fogh, Richard J. Dobson, Stephen J. Newhouse & Ammar Al-Chalabi. (2019) C9orf72 intermediate expansions of 24–30 repeats are associated with ALS. Acta Neuropathologica Communications 7:1.
Crossref
P. Corcia, S. Bakkouche, B. Dauriat, S. Beltran & P. Vourc’h. (2019) Genetica della sclerosi laterale amiotrofica. EMC - Neurologia 19:4, pages 1-8.
Crossref
Micaela Fredi, Ilaria Cavazzana, Giorgio Biasiotto, Massimiliano Filosto, Alessandro Padovani, Eugenio Monti, Angela Tincani, Franco Franceschini & Isabella Zanella. (2019) C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis. NeuroMolecular Medicine 21:2, pages 150-159.
Crossref
Thomas Bourinaris & Henry Houlden. (2018) C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature. Movement Disorders Clinical Practice 5:6, pages 575-585.
Crossref
Cinzia Tiloca, Melissa Sorosina, Federica Esposito, Silvia Peroni, Claudia Colombrita, Nicola Ticozzi, Antonia Ratti, Filippo Martinelli-Boneschi & Vincenzo Silani. (2018) No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis. Multiple Sclerosis and Related Disorders 25, pages 192-195.
Crossref
Samantha Bovaird, Dhara Patel, Juan‐Carlos Alberto Padilla & Eric Lécuyer. (2018) Biological functions, regulatory mechanisms, and disease relevance of RNA localization pathways. FEBS Letters 592:17, pages 2948-2972.
Crossref
Xiaolu Liu, Ji He, Fen-Biao Gao, Aaron D. Gitler & Dongsheng Fan. (2018) The epidemiology and genetics of Amyotrophic lateral sclerosis in China. Brain Research 1693, pages 121-126.
Crossref
Adeline S L Ng & Eng-King Tan. (2017) Intermediate C9orf72 alleles in neurological disorders: does size really matter?. Journal of Medical Genetics 54:9, pages 591-597.
Crossref
Holly V. Barker, Michael Niblock, Youn-Bok Lee, Christopher E. Shaw & Jean-Marc Gallo. (2017) RNA Misprocessing in C9orf72-Linked Neurodegeneration. Frontiers in Cellular Neuroscience 11.
Crossref
Francesco Cavallieri, Jessica Mandrioli, Francesca Rosafio, Sara Contardi, Antonio Fasano, Elisa Menozzi, Claudia Caponnetto, Adriano Chiò & Franco Valzania. (2017) C9ORF72 and parkinsonism: Weak link, innocent bystander, or central player in neurodegeneration?. Journal of the Neurological Sciences 378, pages 49-51.
Crossref
P. Corcia, P. Couratier, H. Blasco, C.R. Andres, S. Beltran, V. Meininger & P. Vourc’h. (2017) Genetics of amyotrophic lateral sclerosis. Revue Neurologique 173:5, pages 254-262.
Crossref
Giorgio Biasiotto, Silvana Archetti, Diego Di Lorenzo, Francesca Merola, Giulia Paiardi, Barbara Borroni, Antonella Alberici, Alessandro Padovani, Massimiliano Filosto, Cristian Bonvicini, Luigi Caimi & Isabella Zanella. (2017) A PCR-based protocol to accurately size C9orf72 intermediate-length alleles. Molecular and Cellular Probes 32, pages 60-64.
Crossref
Matthew J. Stopford, Adrian Higginbottom, Guillaume M. Hautbergue, Johnathan Cooper-Knock, Padraig J. Mulcahy, Kurt J. De Vos, Alan E. Renton, Hannah Pliner, Andrea Calvo, Adriano Chio, Bryan J. Traynor, Mimoun Azzouz, Paul R. Heath, Janine Kirby & Pamela J. Shaw. (2017) C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Human Molecular Genetics 26:6, pages 1133-1145.
Crossref
Alice VajdaRussell L. McLaughlinMark HeverinOwen ThorpeSharon AbrahamsAmmar Al-ChalabiOrla Hardiman. (2017) Genetic testing in ALS. Neurology 88:10, pages 991-999.
Crossref
Fang Liu, Qing Liu, Chao Xia Lu, Bo Cui, Xia Nan Guo, Rong Rong Wang, Ming Sheng Liu, Xiao Guang Li, Li-ying Cui & Xue Zhang. (2016) Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis. Neurobiology of Aging 47, pages 219.e1-219.e5.
Crossref
Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Matthis Synofzik, Ludger Schöls, Thomas Gasser, Torsten Grehl, Johannes Prudlo & Saskia Biskup. (2016) Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. Frontiers in Molecular Neuroscience 9.
Crossref
Martine Therrien, Patrick A. Dion & Guy A. Rouleau. (2016) ALS: Recent Developments from Genetics Studies. Current Neurology and Neuroscience Reports 16:6.
Crossref
Jennifer MurphyPam Factor-LitvakRaymond GoetzCatherine Lomen-HoerthPeter L. NagyJonathan HupfJessica SingletonSusan WoolleyHoward AndrewsDaragh HeitzmanRichard S. BedlackJonathan S. KatzRichard J. BarohnEric J. SorensonBjörn OskarssonJ. Americo M. Fernandes FilhoEdward J. KasarskisTahseen MozaffarYvonne D. RollinsSharon P. NationsAndrea J. SwensonBoguslawa A. Koczon-JaremkoHiroshi MitsumotoJennifer Murphy, Pam Factor-Litvak, Raymond R Goetz, Cathy Lomen-Hoerth, Peter L Nagy, Jon Hupf, Jess Singleton, Susan Woolley, Howard Andrews, Daragh Heitzman, Richard S Bedlack, Jonathan S Katz, Richard J Barohn, Eric J Sorenson, Björn Oskarsson, J Americo M Fernandes Filho, Edward J Kasarskis, Tahseen Mozaffar, Yvonne Rollins, Sharon P Nations, Andrea J Swenson, Boguslawa A Koczon-Jaremko, Hiroshi Mitsumoto, Christa Campanella, David Merle, Tejal Shah, Meredith Pasmantier Kim, Yei-Won Lee, Georgia Christodoulou, Kate Dalton, Jessica Kidd, Erin Gilbert, Mary Kilty, Wendy Rodriguez, Shari Hand, Michelle Washington, Brent Spears, Brandie Burson, Karen Grace, Candace Boyette, Robert G. Miller, Dallas Forshew, Joni Beemsterboer, Will Harris, Shelley McCoy, Thaïs Zayas-Bazan, Chow Saephanh, April L McVey, Mazen M Dimachkie, Mamatha Pasnoor, Yunxia Wang, Lowell L Tilzer, Maureen Walsh, Laura Herbelin, Christian Pearson, Joe Sibinski, Kristy Anderson, Sherry Klingerman, Delana Weis, Nanette Joyce, Steffany Lim, Michelle Cregan, Kathie Vanderpool, Deborah Taylor, Samantha Thomas, Jason King, Robert Wells, Y-Nhy Duong, Dennis Robins, Claudia Villerme, Yvonne D Rollins, Steven P. Ringel, Dianna Quan, Elizabeth Whitethorn, Annabel K Wang, Veronica Martin, Brian Minton, Patricia Tully, Denise Davis, Pariwat Thaisetthawatkul, Cindy Cowardin, Russell Herstein, Carolyn Peterson, Decontee Jimmeh-Fletcher, Heena Olalde, Jeri Sieren, Jeffrey Elliott, Jaya Trivedi, Nina Gorham, Jeremy M. Shefner, Mary Lou Watson, Jennifer Moore, Katie Markis, Megan Grosso, Jinsy A. Andrews, Agnes Koczon-Jaremko & Janet Bowen. (2016) Cognitive-behavioral screening reveals prevalent impairment in a large multicenter ALS cohort. Neurology 86:9, pages 813-820.
Crossref
Yongping Chen, Ziqiang Lin, Xueping Chen, Bei Cao, Qianqian Wei, Ruwei Ou, Bi Zhao, Wei Song, Ying Wu & Hui-Fang Shang. (2016) Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis. Neurobiology of Aging 38, pages 217.e15-217.e22.
Crossref
. (2016) GENES ATXN2 AND C9ORF72 AS UNIVERSAL FACTORS OF DIFFERENT NEUROLOGICAL DISORDERS DEVELOPMENT. The Neurological Journal 21:6.
Crossref
Angelica Nordin, Chizuru Akimoto, Anna Wuolikainen, Helena Alstermark, Pär Jonsson, Anna Birve, Stefan L. Marklund, Karin S. Graffmo, Karin Forsberg, Thomas Brännström & Peter M. Andersen. (2015) Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. Human Molecular Genetics 24:11, pages 3133-3142.
Crossref
Johnathan Cooper-Knock, Janine Kirby, Robin Highley & Pamela J. Shaw. (2015) The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics 12:2, pages 326-339.
Crossref
Jonathan D Rohrer, Adrian M Isaacs, Sarah Mizielinska, Simon Mead, Tammaryn Lashley, Selina Wray, Katie Sidle, Pietro Fratta, Richard W Orrell, John Hardy, Janice Holton, Tamas Revesz, Martin N Rossor & Jason D Warren. (2015) C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. The Lancet Neurology 14:3, pages 291-301.
Crossref
Johnathan Cooper-Knock, Matthew J. Walsh, Adrian Higginbottom, J. Robin Highley, Mark J. Dickman, Dieter Edbauer, Paul G. Ince, Stephen B. Wharton, Stuart A. Wilson, Janine Kirby, Guillaume M. Hautbergue & Pamela J. Shaw. (2014) Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain 137:7, pages 2040-2051.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.