The DOI matches its Crossref record; 37 of the 39 references it cites were found in a registry or an index.
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Open accessAbstract
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype. This repeat expansion segregates perfectly with disease in the Finnish population, underlying 46.0% of familial ALS and 21.1% of sporadic ALS in that population. Taken together with the D90A SOD1 mutation, 87% of familial ALS in Finland is now explained by a simple monogenic cause. The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The GGGGCC repeat expansion suppresses the production of C9ORF72 protein by inhibiting transcription (140, 153, 225, 369, 497, 520).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [497]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Approximately 10% of ALS cases are familial with autosomal dominant inheritance of mutations reported in at least 15 genes, including to name a few SOD1 , TARDBP , FUS , ANG , and OPTN (11, 18, 174, 465), and an expanded hexanucleotide repeat of GGGGCC in a noncoding region of the C9ORF72 gene (140, 497).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [497]
Experimental — accuracy not yet measuredIn the citing paper
“Through SCFAs, the gut microbiota actively communicates with host cells to regulate neurotrophic factors, neurotransmitters, and levels of neuroinflammation by affecting glial cell morphology and function, mitochondrial function, immune activation, lipid metabolism, and gene expression, thereby influencing CNS functions.”
From Modulation of the gut–brain axis via the gut microbiota: a new era in treatment of amyotrophic lateral sclerosis (2023) · cites this paper as [57]
In the citing paper
“The most common genes identified in clinical practice include SOD1, C9ORF72, TARDBP, FUS, and OPTNTD-P43 (55–57, 73, 74).”
From Modulation of the gut–brain axis via the gut microbiota: a new era in treatment of amyotrophic lateral sclerosis (2023) · cites this paper as [57]
In the citing paper
“The most common genes linked to familial FTD are MAPT, progranulin (GRN), and chromosome 9 open reading frame 72 (C9orf72).”
From New developments of biofluid‐based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia (2022) · cites this paper as [35]
In the citing paper
“In 2011, the seminal discovery of disease-associated expansion mutations within the C9orf72 gene uncovered the most common genetic cause of inherited ALS and FTD, accounting for 23–47% of familial cases and 4–21% of sporadic disease.”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [142]
In the citing paper
“Unaffected individuals carry 2–30 repeated stretches of GGGGCC within the first intron of the gene, but patients with C9orf72-associated ALS-FTD harbor several hundred to thousands of repeats [141,142].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [142]
In the citing paper
“C9orf72 intronic hexanucleotide repeat expansion (GGGGCC) was identified as the most common genetic cause of FTD and ALS.304,335”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [335]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., & Mesirov, J. P. (2011) · Nature Biotechnology · doi:10.1038/nbt.1754 · Cited by 15,390
Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J. P., Deng, H.-X., et al. (1993) · Nature · doi:10.1038/362059a0 · Cited by 7,062
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., et al. (2008) · Science · doi:10.1126/science.1154584 · Cited by 2,630
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Vance, C. A., Rogelj, B., Hortobágyi, T., Vos, K. J. D., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B. N., Ruddy, D., Wright, P. D., et al. (2009) · Science · doi:10.1126/science.1165942 · Cited by 2,625
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Kwiatkowski, T. J., Bosco, D. A., LeClerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., Davis, A., Gilchrist, J. M., Kasarskis, E. J., Munsat, T. L., et al. (2009) · Science · doi:10.1126/science.1166066 · Cited by 2,624
Rowland, L. P., & Shneider, N. A. (2001) · New England Journal of Medicine · doi:10.1056/nejm200105313442207 · Cited by 1,913
How common are the "common" neurologic disorders?
Hirtz, D., Thurman, D. J., Gwinn-Hardy, K., Mohamed, M., Chaudhuri, A. R., & Zalutsky, R. (2007) · Neurology · doi:10.1212/01.wnl.0000252807.38124.a3 · Cited by 1,365
Mutations of optineurin in amyotrophic lateral sclerosis
Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., Kinoshita, Y., Kamada, M., Nodera, H., Suzuki, H., et al. (2010) · Nature · doi:10.1038/nature08971 · Cited by 1,265
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.11.036 · Cited by 1,235
Self-citationHOW COMMON ARE THE “COMMON” NEUROLOGIC DISORDERS?
Kaplin, A. I., & Williams, M. (2007) · Neurology · doi:10.1212/01.wnl.0000278071.91524.4d · Cited by 1,132
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Lagier-Tourenne, C., Polymenidou, M., & Cleveland, D. W. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq137 · Cited by 1,021
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
Mackenzie, I. R., Rademakers, R., & Neumann, M. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70195-2 · Cited by 1,012
A Human Genome Diversity Cell Line Panel
Cann, H. M., de Toma, C., Cazes, L., Legrand, M.-F., Morel, V., Piouffre, L., Bodmer, J. G., Bodmer, W. F., Bonné, B., Cambon‐Thomsen, A., et al. (2002) · Science · doi:10.1126/science.296.5566.261b · Cited by 997
Lin, C.-L., Bristol, L. A., Jin, L., Dykes‐Hoberg, M., Crawford, T. O., Clawson, L., & Rothstein, J. D. (1998) · Neuron · doi:10.1016/s0896-6273(00)80997-6 · Cited by 672
Self-citationCommon variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
Van Deerlin, V. M., Sleiman, P. M. A., Martinez-Lage, M., Chen-Plotkin, A., Wang, L.-S., Graff-Radford, N. R., Dickson, D. W., Rademakers, R., Boeve, B. F., Grossman, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.536 · Cited by 579
Self-citationvan Es, M. A., Veldink, J. H., Saris, C. G. J., Blauw, H. M., van Vught, P. W. J., Birve, A., Lemmens, R., Schelhaas, H. J., Groen, E. J. N., Huisman, M. H. B., et al. (2009) · Nature Genetics · doi:10.1038/ng.442 · Cited by 408
Vance, C. A., Al‐Chalabi, A., Ruddy, D., Smith, B. N., Hu, X., Sreedharan, J., Siddique, T., Schelhaas, H. J., Küsters, B., Troost, D., et al. (2006) · Brain · doi:10.1093/brain/awl030 · Cited by 392
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
Morita, M., Al‐Chalabi, A., Andersen, P. M., Hosler, B. A., Sapp, P. C., Englund, E. M., Mitchell, J. E., Habgood, J., de Belleroche, J., Xi, J., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000200048.53766.b4 · Cited by 363
Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y., Habu, T., Liu, W., Okuda, H., & Koizumi, A. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.015 · Cited by 288
Transport-Dependent Proteolysis of SREBP
DeBose-Boyd, R. A., Brown, M. S., Li, W.-P., Nohturfft, A., Goldstein, J. L., & Espenshade, P. J. (1999) · Cell · doi:10.1016/s0092-8674(00)81668-2 · Cited by 288
A general method for the detection of large CAG repeat expansions by fluorescent PCR.
Warner, J. P., Barron, L. H., Goudie, D. R., Kelly, K., Dow, D. J., FitzPatrick, D. R., & Brock, D. J. H. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.12.1022 · Cited by 286
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
Laaksovirta, H., Peuralinna, T., Schymick, J. C., Scholz, S. W., Lai, S.-L., Myllykangas, L., Sulkava, R. O., Jansson, L., Hernandez, D. G., Gibbs, J. R., et al. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70184-8 · Cited by 260
Self-citationCellular toxicity of expanded RNA repeats: focus on RNA foci
Wojciechowska, M., & Krzyżosiak, W. J. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr299 · Cited by 244
Shatunov, A., Mok, K. Y., Newhouse, S., Weale, M. E., Smith, B. N., Vance, C. A., Johnson, L., Veldink, J. H., van Es, M. A., van den Berg, L. H., et al. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70197-6 · Cited by 235
Self-citationTrabzuni, D., Ryten, M., Walker, R., Smith, C., Imran, S., Ramasamy, A., Weale, M. E., & Hardy, J. (2011) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2011.07432.x · Cited by 229 · cited 2×
“Expression profiling on Affymetrix GeneChip Human Exon 1.0 ST Arrays (Affymetrix, UK) was performed on CNS tissue obtained from 137 neurologically normal individuals at AROS Applied Biotechnology AS company laboratories (http://www.arosab.com/) (Trabzuni et al., 2011).”
MethodInfluentialSelf-citationClinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
Boxer, A. L., Mackenzie, I. R., Boeve, B. F., Baker, M., Seeley, W. W., Crook, R., Feldman, H., Hsiung, G. R., Rutherford, N. J., Laluz, V., et al. (2010) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2009.204081 · Cited by 199
Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders
Lillo, P., & Hodges, J. R. (2009) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2009.03.005 · Cited by 161
Fluorescence In Situ Hybridization (FISH) — Application Guide
Liehr, T. (2008) · Springer eBooks · doi:10.1007/978-3-540-70581-9 · Cited by 148
The chromosome 9 ALS and FTD locus is probably derived from a single founder
Mok, K., Traynor, B. J., Schymick, J., Tienari, P. J., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B. F., et al. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.08.005 · Cited by 131
Self-citationPrevalence of SOD1 mutations in the Italian ALS population
Chiò, A., Traynor, B. J., Lombardo, F., Fimognari, M., Calvo, A., Ghiglione, P., Mutani, R., & Restagno, G. (2008) · Neurology · doi:10.1212/01.wnl.0000299187.90432.3f · Cited by 127
Self-citationPearson, J. P., Williams, N. M., Majounie, E., Waite, A., Stott, J., Newsway, V., Murray, A., Hernandez, D., Guerreiro, R., Singleton, A. B., et al. (2011) · Journal of Neurology · doi:10.1007/s00415-010-5815-x · Cited by 84
Self-citationHaaf, T., Sirugo, G., Kídd, K. K., & Ward, D. C. (1996) · Nature Genetics · doi:10.1038/ng0296-183 · Cited by 35
Flagged first, then by citations
2 of the 39 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936
Brown, R. H., & Al‐Chalabi, A. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1603471 · Cited by 2,580
Blood-Brain Barrier: From Physiology to Disease and Back
Sweeney, M. D., Zhao, Z., Montagne, A., Nelson, A. R., & Zlokovic, B. V. (2019) · Physiological Reviews · doi:10.1152/physrev.00050.2017 · Cited by 2,312
Hardiman, O. M., Al‐Chalabi, A., Chiò, A., Corr, E. M., Logroscino, G., Robberecht, W., Shaw, P. J., Simmons, Z., & van den Berg, L. H. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.71 · Cited by 2,237
Self-citationDecoding ALS: from genes to mechanism
Taylor, J. P., Brown, R. H., & Cleveland, D. W. (2016) · Nature · doi:10.1038/nature20413 · Cited by 2,120
Metadata
- Authors
- Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., Kalimo, H., Paetau, A., Abramzon, Y., Remes, A. M., Kaganovich, A., Scholz, S. W., Duckworth, J., Ding, J., Harmer, D. W., Hernandez, D. G., Johnson, J. O., Mok, K., Ryten, M., Trabzuni, D., Guerreiro, R. J., Orrell, R. W., Neal, J., Murray, A., Pearson, J., Jansen, I. E., Sondervan, D., Seelaar, H., Blake, D., Young, K., Halliwell, N., Callister, J. B., Toulson, G., Richardson, A., Gerhard, A., Snowden, J., Mann, D., Neary, D., Nalls, M. A., Peuralinna, T., Jansson, L., Isoviita, V.-M., Kaivorinne, A.-L., Hölttä-Vuori, M., Ikonen, E., Sulkava, R., Benatar, M., Wuu, J., Chiò, A., Restagno, G., Borghero, G., Sabatelli, M., Heckerman, D., Rogaeva, E., Zinman, L., Rothstein, J. D., Sendtner, M., Drepper, C., Eichler, E. E., Alkan, C., Abdullaev, Z., Pack, S. D., Dutra, A., Pak, E., Hardy, J., Singleton, A., Williams, N. M., Heutink, P., Pickering-Brown, S., Morris, H. R., Tienari, P. J., & Traynor, B. J.
- Affiliations
- National Institutes of Health (US)
- Cardiff University (GB)
- University of Manchester (GB)
- University of Helsinki (FI)
- Oulu University Hospital (FI)
- Illumina (United States) (US)
- UCL Queen Square Institute of Neurology (GB)
- University Hospital of Wales (GB)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Erasmus MC (NL)
- University of Eastern Finland (FI)
- University of Miami (US)
- University of Turin (IT)
- Ospedale Sant'Anna (IT)
- University of Cagliari (IT)
- Microsoft (United States) (US)
- University of Toronto (CA)
- Sunnybrook Health Science Centre (CA)
- Johns Hopkins University (US)
- University of Würzburg (DE)
- Howard Hughes Medical Institute (US)
- Royal Gwent Hospital (GB)
- Corresponding author
- Traynor, Bryan J.
- ORCID
- Renton, Alan E.
- Waite, Adrian
- Rollinson, Sara
- Gibbs, J. Raphael
- Schymick, Jennifer C.
- Laaksovirta, Hannu
- Myllykangas, Liisa
- Kaganovich, Alice
- Scholz, Sonja W.
- Ding, Jinhui
- Hernandez, Dena G.
- Mok, Kin
- Ryten, Mina
- Guerreiro, Rita J.
- Murray, Alex
- Jansen, Iris E.
- Seelaar, Harro
- Blake, Derek
- Callister, Janis Bennion
- Toulson, Greg
- Richardson, Anna
- Snowden, Julie
- Mann, David
- Neary, David
- Isoviita, Veli-Matti
- Ikonen, Elina
- Benatar, Michael
- Wuu, Joanne
- Chiò, Adriano
- Borghero, Giuseppe
- Sabatelli, Mario
- Heckerman, David
- Rogaeva, Ekaterina
- Zinman, Lorne
- Rothstein, Jeffrey D.
- Sendtner, Michael
- Drepper, Carsten
- Eichler, Evan E.
- Alkan, Can
- Abdullaev, Ziedulla
- Pack, Svetlana D.
- Hardy, John
- Singleton, Andrew
- Williams, Nigel M.
- Heutink, Peter
- Pickering-Brown, Stuart
- Morris, Huw R.
- Tienari, Pentti J.
- Traynor, Bryan J.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2011-10
- Volume
- 72
- Issue
- 2
- Pages
- 257-268
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC3200438
- OpenAlex
- W2150523249
- Cited by
- 4,409
- References
- 39
- Citations by year
- 2026: 166 · 2025: 212 · 2024: 239 · 2023: 263 · 2022: 301 · 2021: 357 · 2020: 324 · 2019: 289 · 2018: 317 · 2017: 300 · 2016: 294 · 2015: 324 · 2014: 319 · 2013: 333 · 2012: 317
- FWCI
- 205.96
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Archive of Doctoral Theses and Digital Collections (University of Calabria) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" (submittedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
- VU Research Portal (submittedVersion, other-oa)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion)
- Use Siena air (University of Siena) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- Wellcome Trust (089701, 089703, 089698)
- Motor Neurone Disease Association (Morris/Oct09/6057)
- Terveyden ja hyvinvoinnin laitos
- National Institutes of Health (Z01-AG000949)
- Medical Research Council (MC_G1000735, MC_PC_09003, MC_G0901330, MC_G1000734)
- National Institute on Aging (Z01AG000949, ZIAAG000933, U24AG021886)
- National Institute of Neurological Disorders and Stroke
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- C9orf72, hexanucleotide repeat expansion, chromosome 9p21, amyotrophic lateral sclerosis, frontotemporal dementia, founder haplotype, familial ALS, sporadic ALS, Finnish population, autosomal dominant neurodegeneration, genetic susceptibility
- MeSH terms
- Alleles, Amyotrophic Lateral Sclerosis, Chromosomes, Human, Pair 9, Female, Finland, Genotype, Haplotypes, Humans, Male, Pedigree, Microsatellite Repeats, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Frontotemporal Dementia
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
