| 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.' |
most of the heritability in frontotemporal dementia (ftd) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (c9orf72), pathogenic/likely pathogenic variants in progranulin (grn), and microtubule-associated protein tau (mapt) genes. |
2024-06-07 |
2024-06-10 |
human |
| 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 |
| Walid Khrouf, Dario Saracino, Benoit Rucheton, Marion Houot, Fabienne Clot, Daisy Rinaldi, Joana Vitor, Marie Huynh, Evelyne Heng, Dimitri Schlemmer, Florence Pasquier, Vincent Deramecourt, Sophie Auriacombe, Carole Azuar, Richard Levy, Stéphanie Bombois, Claire Boutoleau-Brétonnière, Jérémie Pariente, Mira Didic, David Wallon, Frédérique Fluchère, Stéphane Auvin, Imen Ben Younes, Yann Nadjar, Alexis Brice, Bruno Dubois, Dominique Bonnefont-Rousselot, Isabelle Le Ber, Foudil Lamari, Sophie Auriacombe, Serge Belliard, Frédéric Blanc, Claire Boutoleau-Brétonnière, Alexis Brice, Mathieu Ceccaldi, Philippe Couratier, Mira Didic, Bruno Dubois, Frédérique Etcharry-Bouyx, Maïté Formaglio, Véronique Golfier, Didier Hannequin, Lucette Lacomblez, Julien Lagarde, Isabelle Le Ber, Richard Levy, Bernard-François Michel, Jérémie Pariente, Florence Pasquier, Daisy Rinaldi, Carole Roué-Jagot, François Sellal, Christel Thauvin-Robinet, Catherine Thomas-Antérion, Martine Vercelletto, Mira Didic, Nadine Girard, Eric Guedj, Michèle Puel, Jérémie Pariente, Isabelle Berry, Pierre Payoux, Martine Vercelletto, Claire Boutoleau-Brétonnière, Elisabeth Auffray-Calvier, Amandine Pallardy, Florence Pasquier, Vincent Deramecourt, Stéphanie Bombois, Thibaud Lebouvier, Adeline Rollin, Gregory Kuchinski, Didier Hannequin, Olivier Martinaud, David Wallon, Emmanuel Gerardin, Pierre Vera, Daisy Rinaldi, Agnès Camuzat, Alexis Brice, Marie Chupin, Eric Bardinet, Aurélie Kas, Valérie-Causse Lemercier, Merry Masmanian, Hervé Oy. Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression. Neurobiology of disease. 2023-04-01. PMID:37003407. |
we analyzed four lysospl levels in plasmas of 131 grn carriers and 142 non-carriers, including healthy controls and patients with frontotemporal dementias (ftd) carrying a c9orf72 expansion or without any mutation. |
2023-04-01 |
2023-08-14 |
Not clear |
| Oana C Marian, Jonathan D Teo, Jun Yup Lee, Huitong Song, John B Kwok, Ramon Landin-Romero, Glenda Halliday, Anthony S Do. Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations. Acta neuropathologica communications. vol 11. issue 1. 2023-03-26. PMID:36967384. |
disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by grn and c9orf72 gene mutations. |
2023-03-26 |
2023-08-14 |
mouse |
| Oana C Marian, Jonathan D Teo, Jun Yup Lee, Huitong Song, John B Kwok, Ramon Landin-Romero, Glenda Halliday, Anthony S Do. Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations. Acta neuropathologica communications. vol 11. issue 1. 2023-03-26. PMID:36967384. |
heterozygous mutations in the grn gene and hexanucleotide repeat expansions in c9orf72 are the two most common genetic causes of frontotemporal dementia (ftd) with tdp-43 protein inclusions. |
2023-03-26 |
2023-08-14 |
mouse |
| Aurélie Bussy, Jake P Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E Nielsen, Yolande Pijnenburg, Maria Landqvist Waldö, Anne M Remes, Matthias L Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonça, Raquel Sanchez-Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Chris R Butler, Sandro Sorbi, Lize Jiskoot, Harro Seelaar, John C van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B Rowe, Martina Bocchetta, Jonathan D Rohrer, Gabriel A Devenyi, M Mallar Chakravarty, Simon Ducharm. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping. 2023-03-10. PMID:36895129. |
recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (ftd) due to microtubule-associated protein tau (mapt), progranulin (grn) and chromosome 9 open reading frame 72 (c9orf72). |
2023-03-10 |
2023-08-14 |
human |
| Julie S Snowde. Changing perspectives on frontotemporal dementia: A review. Journal of neuropsychology. 2022-10-31. PMID:36315040. |
non-fluent aphasia is linked to progranulin (grn) mutations and mnd and psychosis to repeat expansions in the c9orf72 gene. |
2022-10-31 |
2023-08-14 |
Not clear |
| Aitana Sogorb-Esteve, Johanna Nilsson, Imogen J Swift, Carolin Heller, Martina Bocchetta, Lucy L Russell, Georgia Peakman, Rhian S Convery, John C van Swieten, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Johan Gobom, Ann Brinkmalm, Kaj Blennow, Henrik Zetterberg, Jonathan D Rohre. Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia. Alzheimer's research & therapy. vol 14. issue 1. 2022-08-31. PMID:36045450. |
approximately a third of frontotemporal dementia (ftd) is genetic with mutations in three genes accounting for most of the inheritance: c9orf72, grn, and mapt. |
2022-08-31 |
2023-08-14 |
Not clear |
| Arabella Bouzigues, Lucy L Russell, Georgia Peakman, Martina Bocchetta, Caroline V Greaves, Rhian S Convery, Emily Todd, James B Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, Jonathan D Rohre. Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations. Journal of neurology. 2022-03-29. PMID:35348856. |
a third of frontotemporal dementia (ftd) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (mapt), chromosome 9 open reading frame 72 (c9orf72) and progranulin (grn). |
2022-03-29 |
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 |
| Nadine Huber, Sonja Korhonen, Dorit Hoffmann, Stina Leskelä, Hannah Rostalski, Anne M Remes, Paavo Honkakoski, Eino Solje, Annakaisa Haapasal. Deficient neurotransmitter systems and synaptic function in frontotemporal lobar degeneration-Insights into disease mechanisms and current therapeutic approaches. Molecular psychiatry. 2021-11-20. PMID:34799692. |
this review summarizes the present knowledge on neurotransmitter system deficits and synaptic dysfunction in model systems and patients harbouring the most common genetic causes of ftld, the hexanucleotide repeat expansion in c9orf72 and mutations in the granulin (grn) and microtubule-associated protein tau (mapt) genes. |
2021-11-20 |
2023-08-13 |
Not clear |
| Fábio Carneiro, Dario Saracino, Vincent Huin, Fabienne Clot, Cécile Delorme, Aurélie Méneret, Stéphane Thobois, Florence Cormier, Jean Christophe Corvol, Timothée Lenglet, Marie Vidailhet, Marie-Odile Habert, Audrey Gabelle, Émilie Beaufils, Karl Mondon, Mélissa Tir, Daniela Andriuta, Alexis Brice, Vincent Deramecourt, Isabelle Le Be. Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations. Parkinsonism & related disorders. vol 80. 2021-10-21. PMID:32961397. |
a phenotype of isolated parkinsonism mimicking idiopathic parkinson's disease (ipd) is a rare clinical presentation of grn and c9orf72 mutations, the major genetic causes of frontotemporal dementia (ftd). |
2021-10-21 |
2023-08-13 |
Not clear |
| Emma L van der Ende, Estrella Morenas-Rodriguez, Corey McMillan, Murray Grossman, David Irwin, Raquel Sanchez-Valle, Caroline Graff, Rik Vandenberghe, Yolande A L Pijnenburg, Robert Laforce, Isabelle Le Ber, Alberto Lleo, Christian Haass, Marc Suarez-Calvet, John C van Swieten, Harro Seelaa. CSF sTREM2 is elevated in a subset in GRN-related frontotemporal dementia. Neurobiology of aging. vol 103. 2021-08-16. PMID:33896652. |
we measured soluble triggering receptor expressed on myeloid cells 2 (strem2), which is shed from disease-associated microglia following cleavage of trem2, in cerebrospinal fluid of 34 presymptomatic and 35 symptomatic grn mutation carriers, 6 presymptomatic and 32 symptomatic c9orf72 mutation carriers and 67 healthy noncarriers by elisa. |
2021-08-16 |
2023-08-13 |
Not clear |
| Melanie T Gentry, Maria I Lapid, Jeremy Syrjanen, Kendrick Calvert, Samantha Hughes, Danielle Brushaber, Walter Kremers, Jessica Bove, Patrick Brannelly, Giovanni Coppola, Christina Dheel, Bradley Dickerson, Susan Dickinson, Kelley Faber, Julie Fields, Jamie Fong, Tatiana Foroud, Leah Forsberg, Ralitza Gavrilova, Deb Gearhart, Nupur Ghoshal, Jill Goldman, Jonathan Graff-Radford, Neill Graff-Radford, Murray Grossman, Dana Haley, Hilary Heuer, Ging-Yuek Hsiung, Edward Huey, David Irwin, David Jones, Lynne Jones, Kejal Kantarci, Anna Karydas, David Knopman, John Kornak, Joel Kramer, Walter Kukull, Diane Lucente, Codrin Lungu, Ian Mackenzie, Masood Manoochehri, Scott McGinnis, Bruce Miller, Rodney Pearlman, Len Petrucelli, Madeline Potter, Rosa Rademakers, Eliana Marisa Ramos, Katherine Rankin, Katya Rascovsky, Pheth Sengdy, Leslie Shaw, Nadine Tatton, Joanne Taylor, Arthur Toga, John Trojanowski, Sandra Weintraub, Bonnie Wong, Zbigniew Wszolek, Bradley F Boeve, Adam Boxer, Howard Rose. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 16. issue 8. 2021-08-09. PMID:32656921. |
the longitudinal evaluation of familial frontotemporal dementia subjects evaluates familial frontotemporal lobar degeneration (ftld) kindreds with mapt, grn, or c9orf72 mutations. |
2021-08-09 |
2023-08-13 |
human |
| L Sellami, D Saracino, I Le Be. Genetic forms of frontotemporal lobar degeneration: Current diagnostic approach and new directions in therapeutic strategies. Revue neurologique. vol 176. issue 7-8. 2021-08-06. PMID:32312500. |
three major genes, namely progranulin (grn), c9orf72 and mapt, as well as several less common genes, are responsible for the majority of familial cases and for a significant proportion of sporadic forms, including ftld with or without associated amyotrophic lateral sclerosis and some rarer clinical presentations. |
2021-08-06 |
2023-08-13 |
Not clear |
| Martina Bocchetta, Juan E Iglesias, Mollie Neason, David M Cash, Jason D Warren, Jonathan D Rohre. Thalamic nuclei in frontotemporal dementia: Mediodorsal nucleus involvement is universal but pulvinar atrophy is unique to C9orf72. Human brain mapping. vol 41. issue 4. 2021-07-23. PMID:31696638. |
stratification was performed by clinical diagnosis (180 behavioural variant ftd (bvftd), 85 semantic variant primary progressive aphasia (svppa), 114 nonfluent variant ppa (nfvppa), 15 ppa not otherwise specified (ppa-nos), and 8 with associated motor neurone disease (ftd-mnd), genetic diagnosis (27 mapt, 28 c9orf72, 18 grn), and pathological confirmation (37 tauopathy, 38 tdp-43opathy, 4 fusopathy). |
2021-07-23 |
2023-08-13 |
Not clear |
| Lucy L Russell, Caroline V Greaves, Martina Bocchetta, Jennifer Nicholas, Rhian S Convery, Katrina Moore, David M Cash, John van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Emanuela Rotondo, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Jason D Warren, Jonathan D Rohre. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort. Cortex; a journal devoted to the study of the nervous system and behavior. vol 133. 2021-06-21. PMID:33221702. |
facial emotion recognition (fer) and faux pas (fp) recognition tests were used to study social cognition within the genetic frontotemporal dementia initiative (genfi), a large familial ftd cohort of c9orf72, grn, and mapt mutation carriers. |
2021-06-21 |
2023-08-13 |
human |
| Jonathan D Rohrer, Adam L Boxe. The Frontotemporal Dementia Prevention Initiative: Linking Together Genetic Frontotemporal Dementia Cohort Studies. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433872. |
around one-third of frontotemporal dementia (ftd) is autosomal dominant with the major genetic causes being mutations in mapt, grn and c9orf72. |
2021-02-15 |
2023-08-13 |
human |
| Emma L van der Ende, John C van Swiete. Fluid Biomarkers of Frontotemporal Lobar Degeneration. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433873. |
gene-specific biomarkers such as pgrn in grn mutation carriers and dipeptide repeat proteins in c9orf72 mutation carriers are potential target engagement markers in genetic ftd trials. |
2021-02-15 |
2023-08-13 |
Not clear |
| Adam M Staffaroni, Sheng-Yang M Goh, Yann Cobigo, Elise Ong, Suzee E Lee, Kaitlin B Casaletto, Amy Wolf, Leah K Forsberg, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Hilary W Heuer, Ging-Yuek R Hsiung, Kejal Kantarci, David S Knopman, Walter K Kremers, Ian R Mackenzie, Bruce L Miller, Otto Pedraza, Katya Rascovsky, M Carmela Tartaglia, Zbigniew K Wszolek, Joel H Kramer, John Kornak, Bradley F Boeve, Adam L Boxer, Howard J Rose. Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants. JAMA network open. vol 3. issue 10. 2021-01-04. PMID:33112398. |
rates of brain atrophy across disease stages in familial frontotemporal dementia associated with mapt, grn, and c9orf72 pathogenic variants. |
2021-01-04 |
2023-08-13 |
Not clear |