| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' Elka Stefanova, Ana Marjanovi\\xc4\\x87, Valerija Dobri\\xc4\\x8di\\xc4\\x87, Gorana Mandi\\xc4\\x87-Stojmenovi\\xc4\\x87, Tanja Stojkovi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Maksim \\xc5\\xa0ar\\xc4\\x8devi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Vladimir S Kosti\\xc4\\x8. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics. 2024-06-07. PMID:38847891.' |
herein, we assessed the frequency of the c9orf72 expansion, pathogenic/likely pathogenic variants in grn and mapt in a well-characterized group of 472 subjects (ftd, alzheimer's disease - ad, mild cognitive impairment - mci, and unspecified dementia - und), recruited in the memory center, neurology clinic, university clinical center of serbia. |
2024-06-07 |
2024-06-10 |
human |
| C Sellier, P Corcia, P Vourc'h, L Dupui. C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role? Revue neurologique. 2024-04-12. PMID:38609750. |
the major gene underlying monogenic forms of amyotrophic lateral sclerosis (als) and fronto-temporal dementia (ftd) is c9orf72. |
2024-04-12 |
2024-04-15 |
Not clear |
| Jesse D Lai, Joshua E Berlind, Gabriella Fricklas, Cecilia Lie, Jean-Paul Urenda, Kelsey Lam, Naomi Sta Maria, Russell Jacobs, Violeta Yu, Zhen Zhao, Justin K Ichid. KCNJ2 inhibition mitigates mechanical injury in a human brain organoid model of traumatic brain injury. Cell stem cell. vol 31. issue 4. 2024-04-08. PMID:38579683. |
injured organoids derived from c9orf72 amyotrophic lateral sclerosis/frontotemporal dementia (als/ftd) patients displayed exacerbated tdp-43 dysfunction. |
2024-04-08 |
2024-04-10 |
human |
| Carmelo Milioto, Mireia Carcolé, Ashling Giblin, Rachel Coneys, Olivia Attrebi, Mhoriam Ahmed, Samuel S Harris, Byung Il Lee, Mengke Yang, Robert A Ellingford, Raja S Nirujogi, Daniel Biggs, Sally Salomonsson, Matteo Zanovello, Paula de Oliveira, Eszter Katona, Idoia Glaria, Alla Mikheenko, Bethany Geary, Evan Udine, Deniz Vaizoglu, Sharifah Anoar, Khrisha Jotangiya, Gerard Crowley, Demelza M Smeeth, Mirjam L Adams, Teresa Niccoli, Rosa Rademakers, Marka van Blitterswijk, Anny Devoy, Soyon Hong, Linda Partridge, Alyssa N Coyne, Pietro Fratta, Dario R Alessi, Ben Davies, Marc Aurel Busche, Linda Greensmith, Elizabeth M C Fisher, Adrian M Isaac. PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons. Nature neuroscience. 2024-02-29. PMID:38424324. |
dipeptide repeat proteins are a major pathogenic feature of c9orf72 amyotrophic lateral sclerosis (c9als)/frontotemporal dementia (ftd) pathology, but their physiological impact has yet to be fully determined. |
2024-02-29 |
2024-03-03 |
mouse |
| Sacha Weber, Philippe Corcia, Fausto Viade. [Genetics of amyotrophic lateral sclerosis]. La Revue du praticien. vol 73. issue 7. 2023-10-05. PMID:37796272. |
many genes are involved, the four main ones being c9orf72 (which can also be responsible for dementia), sod1, tardbp and fus. |
2023-10-05 |
2023-10-07 |
human |
| Micaela Nievas, Leonardo Romorini, Luciana Isaja, Giulia S Clas, Soledad Rodríguez-Varela, Sofía Mucci, Tatiana Itzcovich, Bruno de Ambrosi, María E Scassa, Gustavo E Sevlever, Ezequiel I Surace, Mariela C Marazit. Generation of a human induced pluripotent stem cell line (INEUi001-A) from an amyotrophic lateral sclerosis/frontotemporal dementia patient with a C9ORF72 G4C2 genotype of <2 (GGGGCCG) and 10 repeats. Stem cell research. vol 69. 2023-03-24. PMID:36963214. |
generation of a human induced pluripotent stem cell line (ineui001-a) from an amyotrophic lateral sclerosis/frontotemporal dementia patient with a c9orf72 g4c2 genotype of <2 (ggggccg) and 10 repeats. |
2023-03-24 |
2023-08-14 |
human |
| Theresa König, Raphael Wurm, Tandis Parvizi, Sara Silvaieh, Christoph Hotzy, Hakan Cetin, Sigrid Klotz, Ellen Gelpi, Christian Bancher, Thomas Benke, Peter Dal-Bianco, Michaela Defrancesco, Peter Fischer, Josef Marksteiner, Hedwig Sutterlüty, Gerhard Ransmayr, Reinhold Schmidt, Alexander Zimprich, Elisabeth Stögman. C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients. Neurobiology of disease. 2022-11-15. PMID:36379394. |
c9orf72 repeat length might influence clinical sub-phenotypes in dementia patients. |
2022-11-15 |
2023-08-14 |
Not clear |
| Angela Rosenbohm, Hendrik Pott, Mirja Thomsen, Haloom Rafehi, Sabine Kaya, Silke Szymczak, Alexander E Volk, Kathrin Mueller, Isabel Silveira, Jochen H Weishaupt, Holger Tönnies, Philip Seibler, Katja Zschiedrich, Susen Schaake, Ana Westenberger, Christine Zühlke, Christel Depienne, Joanne Trinh, Albert C Ludolph, Christine Klein, Melanie Bahlo, Katja Lohman. Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study. Movement disorders : official journal of the Movement Disorder Society. 2022-09-23. PMID:36148898. |
familial cerebellar ataxia and amyotrophic lateral sclerosis/frontotemporal dementia with dab1 and c9orf72 repeat expansions: an 18-year study. |
2022-09-23 |
2023-08-14 |
Not clear |
| Antonella Muroni, Gianluca Floris, Lorenzo Polizzi, Laura Fadda, Giuseppe Piga, Giulia Primicerio, Lorenzo Rocchi, Giovanni Defazi. Does epilepsy contribute to the clinical phenotype of C9orf72 mutation in fronto-temporal dementia? Epilepsy & behavior : E&B. vol 133. 2022-06-25. PMID:35752055. |
does epilepsy contribute to the clinical phenotype of c9orf72 mutation in fronto-temporal dementia? |
2022-06-25 |
2023-08-14 |
Not clear |
| Giulia Gianferrari, Ilaria Martinelli, Elisabetta Zucchi, Cecilia Simonini, Nicola Fini, Marco Vinceti, Salvatore Ferro, Annalisa Gessani, Elena Canali, Franco Valzania, Elisabetta Sette, Maura Pugliatti, Valeria Tugnoli, Lucia Zinno, Salvatore Stano, Mario Santangelo, Silvia De Pasqua, Emilio Terlizzi, Donata Guidetti, Doriana Medici, Fabrizio Salvi, Rocco Liguori, Veria Vacchiano, Mario Casmiro, Pietro Querzani, Marco Currò Dossi, Alberto Patuelli, Simonetta Morresi, Marco Longoni, Patrizia De Massis, Rita Rinaldi, Annamaria Borghi, Errals Group, Amedeo Amedei, Jessica Mandriol. Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy. Biomedicines. vol 10. issue 4. 2022-04-23. PMID:35453569. |
more than 70% of c9orf72-expanded patients had a family history of als/fronto-temporal dementia (ftd); 22.58% of patients with ftd at diagnosis had c9orf72 expansion (or 6.34, |
2022-04-23 |
2023-08-13 |
Not clear |
| Mathieu Barbier, Agnès Camuzat, Khalid El Hachimi, Justine Guegan, Daisy Rinaldi, Serena Lattante, Marion Houot, Raquel Sánchez-Valle, Mario Sabatelli, Anna Antonell, Laura Molina-Porcel, Fabienne Clot, Philippe Couratier, Emma van der Ende, Julie van der Zee, Claudia Manzoni, William Camu, Cécile Cazeneuve, François Sellal, Mira Didic, Véronique Golfier, Florence Pasquier, Charles Duyckaerts, Giacomina Rossi, Amalia C Bruni, Victoria Alvarez, Estrella Gómez-Tortosa, Alexandre de Mendonça, Caroline Graff, Mario Masellis, Benedetta Nacmias, Badreddine Mohand Oumoussa, Ludmila Jornea, Sylvie Forlani, Viviana Van Deerlin, Jonathan D Rohrer, Ellen Gelpi, Rosa Rademakers, John Van Swieten, Eric Le Guern, Christine Van Broeckhoven, Raffaele Ferrari, Emmanuelle Génin, Alexis Brice, Isabelle Le Be. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. Brain : a journal of neurology. vol 144. issue 9. 2021-12-09. PMID:34687211. |
the association with onset of dementia was replicated in an independent cohort of unrelated c9orf72 patients (p = 0.009). |
2021-12-09 |
2023-08-13 |
Not clear |
| Mathieu Barbier, Agnès Camuzat, Khalid El Hachimi, Justine Guegan, Daisy Rinaldi, Serena Lattante, Marion Houot, Raquel Sánchez-Valle, Mario Sabatelli, Anna Antonell, Laura Molina-Porcel, Fabienne Clot, Philippe Couratier, Emma van der Ende, Julie van der Zee, Claudia Manzoni, William Camu, Cécile Cazeneuve, François Sellal, Mira Didic, Véronique Golfier, Florence Pasquier, Charles Duyckaerts, Giacomina Rossi, Amalia C Bruni, Victoria Alvarez, Estrella Gómez-Tortosa, Alexandre de Mendonça, Caroline Graff, Mario Masellis, Benedetta Nacmias, Badreddine Mohand Oumoussa, Ludmila Jornea, Sylvie Forlani, Viviana Van Deerlin, Jonathan D Rohrer, Ellen Gelpi, Rosa Rademakers, John Van Swieten, Eric Le Guern, Christine Van Broeckhoven, Raffaele Ferrari, Emmanuelle Génin, Alexis Brice, Isabelle Le Be. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. Brain : a journal of neurology. vol 144. issue 9. 2021-12-09. PMID:34687211. |
no association of rs1009776 was detected in grn patients, suggesting that the effect of rs1009776 was restricted to the onset of dementia due to c9orf72. |
2021-12-09 |
2023-08-13 |
Not clear |
| Mathieu Barbier, Agnès Camuzat, Khalid El Hachimi, Justine Guegan, Daisy Rinaldi, Serena Lattante, Marion Houot, Raquel Sánchez-Valle, Mario Sabatelli, Anna Antonell, Laura Molina-Porcel, Fabienne Clot, Philippe Couratier, Emma van der Ende, Julie van der Zee, Claudia Manzoni, William Camu, Cécile Cazeneuve, François Sellal, Mira Didic, Véronique Golfier, Florence Pasquier, Charles Duyckaerts, Giacomina Rossi, Amalia C Bruni, Victoria Alvarez, Estrella Gómez-Tortosa, Alexandre de Mendonça, Caroline Graff, Mario Masellis, Benedetta Nacmias, Badreddine Mohand Oumoussa, Ludmila Jornea, Sylvie Forlani, Viviana Van Deerlin, Jonathan D Rohrer, Ellen Gelpi, Rosa Rademakers, John Van Swieten, Eric Le Guern, Christine Van Broeckhoven, Raffaele Ferrari, Emmanuelle Génin, Alexis Brice, Isabelle Le Be. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. Brain : a journal of neurology. vol 144. issue 9. 2021-12-09. PMID:34687211. |
how the modulation of slitrk2 expression affects synaptic functions and influences the disease onset of dementia in c9orf72 carriers will require further investigations. |
2021-12-09 |
2023-08-13 |
Not clear |
| Gabriel Pinilla, Anupama Kumar, Mary Kay Floaters, Carlos A Pardo, Jeffrey Rothstein, Hristelina Iliev. Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 22. issue 7-8. 2021-11-25. PMID:33929933. |
c9orf72 hexanucleotide expansion is the most common genetic cause of familial amyotrophic lateral sclerosis (als)/fronto-temporal dementia (ftd) disease spectrum. |
2021-11-25 |
2023-08-13 |
Not clear |
| Xingfeng Xu, Yan Su, Zhenyou Zou, Yali Zhou, Jianguo Ya. Correlation between C9ORF72 mutation and neurodegenerative diseases: A comprehensive review of the literature. International journal of medical sciences. vol 18. issue 2. 2021-09-13. PMID:33390807. |
its association with amyotrophic lateral sclerosis/frontotemporal dementia (als/ftd) spectrum diseases has been fully established, although a causative role for c9orf72 in alzheimer's disease (ad) and parkinson's disease (pd) remains to be established. |
2021-09-13 |
2023-08-13 |
Not clear |
| Zoé Butti, Yingzhou Edward Pan, Jean Giacomotto, Shunmoogum A Patte. Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish. Communications biology. vol 4. issue 1. 2021-08-16. PMID:34172817. |
the most common genetic cause of amyotrophic lateral sclerosis (als) and fronto-temporal dementia (ftd) is a hexanucleotide repeat expansion within the c9orf72 gene. |
2021-08-16 |
2023-08-13 |
zebrafish |
| Sigrid Klotz, Theresa König, Marcus Erdler, Andreas Ulram, Anita Nguyen, Thomas Ströbel, Alexander Zimprich, Elisabeth Stögmann, Günther Regelsberger, Romana Höftberger, Herbert Budka, Gabor G Kovacs, Ellen Gelp. Co-incidental C9orf72 expansion mutation-related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt-Jakob disease. European journal of neurology. vol 28. issue 3. 2021-08-12. PMID:33131137. |
herein we present a unique combination of c9orf72 mutation with sporadic creutzfeldt-jakob disease (cjd) in a 74-year-old patient with rapidly progressive dementia. |
2021-08-12 |
2023-08-13 |
Not clear |
| Deepti Lall, Ileana Lorenzini, Thomas A Mota, Shaughn Bell, Thomas E Mahan, Jason D Ulrich, Hayk Davtyan, Jessica E Rexach, A K M Ghulam Muhammad, Oksana Shelest, Jesse Landeros, Michael Vazquez, Junwon Kim, Layla Ghaffari, Jacqueline Gire O'Rourke, Daniel H Geschwind, Mathew Blurton-Jones, David M Holtzman, Rita Sattler, Robert H Balo. C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation. Neuron. vol 109. issue 14. 2021-08-09. PMID:34133945. |
c9orf72 repeat expansions cause inherited amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd) and result in both loss of c9orf72 protein expression and production of potentially toxic rna and dipeptide repeat proteins. |
2021-08-09 |
2023-08-13 |
mouse |
| Mira Didic, Virginia Aglieri, Eve Tramoni-Nègre, Lucas Ronat, Isabelle Le Ber, Mathieu Ceccaldi, Pascal Belin, Olivier Felicia. Progressive phonagnosia in a telephone operator carrying a C9orf72 expansion. Cortex; a journal devoted to the study of the nervous system and behavior. vol 132. 2021-06-21. PMID:32961393. |
a retired telephone operator carrying a c9orf72 expansion developed phonagnosia, a selective impairment of voice recognition, contrasting with intact person knowledge and recognition of faces, as a presenting sign of genetically confirmed fronto-temporal dementia. |
2021-06-21 |
2023-08-13 |
Not clear |
| Daniel A Mordes, Brett M Morrison, Xanthe H Ament, Christopher Cantrell, Joanie Mok, Pierce Eggan, Carolyn Xue, Jin-Yuan Wang, Kevin Eggan, Jeffrey D Rothstei. Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice. Neuron. vol 108. issue 4. 2021-01-22. PMID:33022228. |
a hexanucleotide repeat expansion at c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd). |
2021-01-22 |
2023-08-13 |
mouse |