| 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 |
| 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 |
| Hong-Rong Cheng, Rong-Rong Lin, Hong-Lei Li, Yan-Yan Xue, Pei-Rong Gao, Dian-Fu Chen, Qing-Qing Tao, Zhi-Ying W. Identification and functional characterization of novel variants of MAPT and GRN in Chinese patients with frontotemporal dementia. Neurobiology of aging. 2023-01-14. PMID:36641371. |
identification and functional characterization of novel variants of mapt and grn in chinese patients with frontotemporal dementia. |
2023-01-14 |
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 |
| Suzanne S M Miedema, Merel O Mol, Frank T W Koopmans, David C Hondius, Pim van Nierop, Kevin Menden, Christina F de Veij Mestdagh, Jeroen van Rooij, Andrea B Ganz, Iryna Paliukhovich, Shamiram Melhem, Ka Wan Li, Henne Holstege, Patrizia Rizzu, Ronald E van Kesteren, John C van Swieten, Peter Heutink, August B Smi. Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia. Acta neuropathologica communications. vol 10. issue 1. 2022-07-07. PMID:35799292. |
distinct cell type-specific protein signatures in grn and mapt genetic subtypes of frontotemporal dementia. |
2022-07-07 |
2023-08-14 |
Not clear |
| Suzanne S M Miedema, Merel O Mol, Frank T W Koopmans, David C Hondius, Pim van Nierop, Kevin Menden, Christina F de Veij Mestdagh, Jeroen van Rooij, Andrea B Ganz, Iryna Paliukhovich, Shamiram Melhem, Ka Wan Li, Henne Holstege, Patrizia Rizzu, Ronald E van Kesteren, John C van Swieten, Peter Heutink, August B Smi. Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia. Acta neuropathologica communications. vol 10. issue 1. 2022-07-07. PMID:35799292. |
here we investigated the proteomic signatures of frontal and temporal cortex from brains with frontotemporal dementia due to grn and mapt mutations to identify the key cell types and molecular pathways in their pathophysiology. |
2022-07-07 |
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 |
| 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 |
| 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 |
| Megan S Barker, Masood Manoochehri, Sandra J Rizer, Brian S Appleby, Danielle Brushaber, Sheena I Dev, Katrina L Devick, Bradford C Dickerson, Julie A Fields, Tatiana M Foroud, Leah K Forsberg, Douglas R Galasko, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Hilary W Heuer, Ging-Yuek Hsiung, John Kornak, Irene Litvan, Ian R Mackenzie, Mario F Mendez, Belen Pascual, Katherine P Rankin, Katya Rascovsky, Adam M Staffaroni, Maria Carmela Tartaglia, Sandra Weintraub, Bonnie Wong, Bradley F Boeve, Adam L Boxer, Howard J Rosen, Jill Goldman, Edward D Huey, Stephanie Cosentin. Recognition memory and divergent cognitive profiles in prodromal genetic frontotemporal dementia. Cortex; a journal devoted to the study of the nervous system and behavior. vol 139. 2021-07-12. PMID:33857770. |
list learning may be a sensitive cognitive marker for incipient dementia in mapt and potentially a subset of grn carriers. |
2021-07-12 |
2023-08-13 |
human |
| Liang He, Yury Loika, Yongjin Park, David A Bennett, Manolis Kellis, Alexander M Kulminsk. Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease. Translational psychiatry. vol 11. issue 1. 2021-06-28. PMID:33637690. |
our cell-type-specific eqtl analysis using ~80,000 single nuclei in the prefrontal cortex revealed that the protective minor allele of rs12373123 significantly increased the expression of grn in microglia, and was associated with mapt expression in astrocytes. |
2021-06-28 |
2023-08-13 |
human |
| 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 |
| Bradley F Boeve, Howard Rose. Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433870. |
clinical and neuroimaging aspects of familial frontotemporal lobar degeneration associated with mapt and grn mutations. |
2021-02-15 |
2023-08-13 |
Not clear |
| Bradley F Boeve, Howard Rose. Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433870. |
numerous kindreds with familial frontotemporal lobar degeneration have been linked to mutations in microtubule-associated protein tau (mapt) or progranulin (grn) genes. |
2021-02-15 |
2023-08-13 |
Not clear |
| 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 |
| 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 |
| Vo Van Giau, Eva Bagyinszky, Young Soon Yang, Young Chul Youn, Seong Soo A An, Sang Yun Ki. Genetic analyses of early-onset Alzheimer's disease using next generation sequencing. Scientific reports. vol 9. issue 1. 2020-10-14. PMID:31182772. |
we identified 70 additional novel and missense variants in other genes, such as mapt, grn, csf1r, and prnp, related to neurodegenerative diseases, which may represent overlapping clinical and neuropathological features with ad. |
2020-10-14 |
2023-08-13 |
Not clear |