Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 225 Records) |
| Query Trace: Frontotemporal Dementia and C9orf72[original query] |
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| Exploring Links Between Psychosis and Frontotemporal Dementia Using Multimodal Machine Learning: Dementia Praecox Revisited. JAMA psychiatry 2022 Sep 79 (9): 907-919. Koutsouleris Nikolaos, Pantelis Christos, Velakoulis Dennis, McGuire Philip, Dwyer Dominic B, Urquijo-Castro Maria-Fernanda, Paul Riya, Dong Sen, Popovic David, Oeztuerk Oemer, Kambeitz Joseph, Salokangas Raimo K R, Hietala Jarmo, Bertolino Alessandro, Brambilla Paolo, Upthegrove Rachel, Wood Stephen J, Lencer Rebekka, Borgwardt Stefan, Maj Carlo, Nöthen Markus, Degenhardt Franziska, Polyakova Maryna, Mueller Karsten, Villringer Arno, Danek Adrian, Fassbender Klaus, Fliessbach Klaus, Jahn Holger, Kornhuber Johannes, Landwehrmeyer Bernhard, Anderl-Straub Sarah, Prudlo Johannes, Synofzik Matthis, Wiltfang Jens, Riedl Lina, Diehl-Schmid Janine, Otto Markus, Meisenzahl Eva, Falkai Peter, Schroeter Matthias L, |
| Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats. Journal of neurology, neurosurgery, and psychiatry 2022 8 93 (11): 1216-20. Chio Adriano, Moglia Cristina, Canosa Antonio, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Gallone Salvatore, Brunetti Maura, Barberis Marco, De Marchi Fabiola, Dalgard Clifton, Chia Ruth, Mora Gabriele, Iazzolino Barbara, Peotta Laura, Traynor Bryan, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Calvo Andr |
| Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort. Journal of Alzheimer's disease : JAD 2022 Aug . Dong Liling, Wang Jie, Liu Caiyan, Li Jie, Mao Chenhui, Huang Xinying, Chu Shanshan, Peng Bin, Cui Liying, Gao Ji |
| Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration. Neurology 2022 7 99 (11): e1154-e1167. Tipton Philip Wade, Deutschlaender Angela B, Savica Rodolfo, Heckman Michael G, Brushaber Danielle E, Dickerson Bradford C, Gavrilova Ralitza H, Geschwind Daniel H, Ghoshal Nupur, Graff-Radford Jonathan, Graff-Radford Neill R, Grossman Murray, Hsiung Ging-Yuek R, Huey Edward D, Irwin David John, Jones David T, Knopman David S, McGinnis Scott M, Rademakers Rosa, Ramos Eliana Marisa, Forsberg Leah K, Heuer Hilary W, Onyike Chiadi, Tartaglia Carmela, Domoto-Reilly Kimiko, Roberson Erik D, Mendez Mario F, Litvan Irene, Appleby Brian S, Grant Ian, Kaufer Daniel, Boxer Adam L, Rosen Howard J, Boeve Brad F, Wszolek Zbigniew K, |
| Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum. Frontiers in neurology 2022 13 886379. Tábuas-Pereira Miguel, Santana Isabel, Gibbons Elizabeth, Paquette Kimberly, Almeida Maria Rosário, Baldeiras Inês, Bras Jose, Guerreiro Ri |
| C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA). Neurologia i neurochirurgia polska 2022 6 56 (3): 276-280. Radziwonik Wiktoria, Elert-Dobkowska Ewelina, Tomczuk Filip, Wozniak Aleksandra, Sobanska Anna, Stepniak Iwona, Koziorowski Dariusz, Zaremba Jacek, Su?ek An |
| Does epilepsy contribute to the clinical phenotype of C9orf72 mutation in fronto-temporal dementia? Epilepsy & behavior : E&B 2022 6 133 108783. Muroni Antonella, Floris Gianluca, Polizzi Lorenzo, Fadda Laura, Piga Giuseppe, Primicerio Giulia, Rocchi Lorenzo, Defazio Giovan |
| Genetic landscape of early-onset dementia in Hungary. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 Jun . Csaban Dora, Illes Anett, Renata Toth-Bencsik, Balicza Peter, Pentelenyi Klara, Molnar Viktor, Gezsi Andras, Grosz Zoltan, Gal Aniko, Kovacs Tibor, Klivenyi Peter, Molnar Maria Jud |
| Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations. Journal of neurology 2022 3 269 (8): 4322-4332. Bouzigues Arabella, Russell Lucy L, Peakman Georgia, Bocchetta Martina, Greaves Caroline V, Convery Rhian S, Todd Emily, Rowe James B, Borroni Barbara, Galimberti Daniela, Tiraboschi Pietro, Masellis Mario, Tartaglia Maria Carmela, Finger Elizabeth, van Swieten John C, Seelaar Harro, Jiskoot Lize, Sorbi Sandro, Butler Chris R, Graff Caroline, Gerhard Alexander, Langheinrich Tobias, Laforce Robert, Sanchez-Valle Raquel, de Mendonça Alexandre, Moreno Fermin, Synofzik Matthis, Vandenberghe Rik, Ducharme Simon, Le Ber Isabelle, Levin Johannes, Danek Adrian, Otto Markus, Pasquier Florence, Santana Isabel, Rohrer Jonathan D, |
| Thalamic and Cerebellar Regional Involvement across the ALS-FTD Spectrum and the Effect of C9orf72. Brain sciences 2022 3 12 (3): . Bocchetta Martina, Todd Emily G, Tse Nga Yan, Devenney Emma M, Tu Sicong, Caga Jashelle, Hodges John R, Halliday Glenda M, Irish Muireann, Piguet Olivier, Kiernan Matthew C, Rohrer Jonathan D, Ahmed Rebekah |
| Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort. Cortex; a journal devoted to the study of the nervous system and behavior 2022 3 150 12-28. Foster Phoebe H, Russell Lucy L, Peakman Georgia, Convery Rhian S, Bouzigues Arabella, Greaves Caroline V, Bocchetta Martina, Cash David M, van Swieten John C, Jiskoot Lize C, Moreno Fermin, Sanchez-Valle Raquel, Laforce Robert, Graff Caroline, Masellis Mario, Tartaglia Carmela, Rowe James B, Borroni Barbara, Finger Elizabeth, Synofzik Matthis, Galimberti Daniela, Vandenberghe Rik, de Mendonça Alexandre, Butler Chris R, Gerhard Alex, Ducharme Simon, Le Ber Isabelle, Tagliavini Fabrizio, Santana Isabel, Pasquier Florence, Levin Johannes, Danek Adrian, Otto Markus, Sorbi Sandro, Rohrer Jonathan D, |
| ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion. Neurology. Genetics 2022 3 8 (2): e665. Laaksovirta Hannu, Launes Jyrki, Jansson Lilja, Traynor Bryan J, Kaivola Karri, Tienari Pentti |
| Cerebellar integrity and contributions to cognition in C9orf72-mediated frontotemporal dementia. Cortex; a journal devoted to the study of the nervous system and behavior 2022 2 149 73-84. Chen Yu, Landin-Romero Ramon, Kumfor Fiona, Irish Muireann, Dobson-Stone Carol, Kwok John B, Halliday Glenda M, Hodges John R, Piguet Olivi |
| The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons. Neuropathology and applied neurobiology 2022 2 48 (4): e12798. Gami-Patel Priya, Scarioni Marta, Bouwman Femke H, Boon Baayla D C, van Swieten John C, Brain Bank Netherlands, Rozemuller Annemieke J M, Smit August B, Pijnenburg Yolande A L, Hoozemans Jeroen J M, Dijkstra Anke |
| Circulating Non-Coding RNA Levels Are Altered in Autosomal Dominant Frontotemporal Dementia. International journal of molecular sciences 2022 12 23 (23): . Fenoglio Chiara, Serpente Maria, Visconte Caterina, Arcaro Marina, Sorrentino Federica, D'Anca Marianna, Arighi Andrea, Rotondo Emanuela, Vimercati Roberto, Rossi Giacomina, Scarpini Elio, Galimberti Danie |
| Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia. Orphanet journal of rare diseases 2022 11 17 (1): 404. Yang Xunzhe, Sun Xiaohai, Liu Qing, Liu Liyang, Li Jinyue, Cai Zhengyi, Zhang Kang, Liu Shuangwu, He Di, Shen Dongchao, Liu Mingsheng, Cui Liying, Zhang X |
| Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome. Journal of Alzheimer's disease reports 2022 11 6 (1): 651-662. Kim Eun-Joo, Na Duk L, Kim Hee-Jin, Park Kyung Won, Lee Jae-Hong, Roh Jee Hoon, Kwon Jay C, Yoon Soo Jin, Jung Na-Yeon, Jeong Jee Hyang, Jang Jae-Won, Kim Hee-Jin, Park Kee Hyung, Choi Seong Hye, Kim SangYun, Park Young Ho, Kim Byeong C, Youn Young Chul, Ki Chang-Seok, Kim Seung Hyun, Seo Sang Won, Kim Young-E |
| Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study. Journal of neurology 2022 11 . Pérez-Millan Agnès, Borrego-Écija Sergi, van Swieten John C, Jiskoot Lize, Moreno Fermin, Laforce Robert, Graff Caroline, Masellis Mario, Tartaglia Maria Carmela, Rowe James B, Borroni Barbara, Finger Elizabeth, Synofzik Matthis, Galimberti Daniela, Vandenberghe Rik, de Mendonça Alexandre, Butler Chris R, Gerhard Alexander, Ducharme Simon, Le Ber Isabelle, Santana Isabel, Pasquier Florence, Levin Johannes, Otto Markus, Sorbi Sandro, Tiraboschi Pietro, Seelaar Harro, Langheinrich Tobias, Rohrer Jonathan D, Sala-Llonch Roser, Sánchez-Valle Raquel, |
| C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients. Neurobiology of disease 2022 11 175 105927. König Theresa, Wurm Raphael, Parvizi Tandis, Silvaieh Sara, Hotzy Christoph, Cetin Hakan, Klotz Sigrid, Gelpi Ellen, Bancher Christian, Benke Thomas, Dal-Bianco Peter, Defrancesco Michaela, Fischer Peter, Marksteiner Josef, Sutterlüty Hedwig, Ransmayr Gerhard, Schmidt Reinhold, Zimprich Alexander, Stögmann Elisabe |
| MicroRNA signatures in genetic frontotemporal dementia and amyotrophic lateral sclerosis. Annals of clinical and translational neurology 2022 10 9 (11): 1778-1791. Kmetzsch Virgilio, Latouche Morwena, Saracino Dario, Rinaldi Daisy, Camuzat Agnès, Gareau Thomas, , Le Ber Isabelle, Colliot Olivier, Becker Emmanuel |
| Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population. Journal of the neurological sciences 2022 10 442 120450. Kartanou Chrisoula, Kontogeorgiou Zoi, Rentzos Michail, Potagas Constantin, Aristeidou Stavroula, Kapaki Elisabeth, Paraskevas George P, Constantinides Vasilios C, Stefanis Leonidas, Papageorgiou Sokratis G, Houlden Henry, Panas Marios, Koutsis Georgios, Karadima Georg |
| CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia. Annals of clinical and translational neurology 2022 10 9 (11): 1764-1777. Woollacott Ione O C, Swift Imogen J, Sogorb-Esteve Aitana, Heller Carolin, Knowles Kathryn, Bouzigues Arabella, Russell Lucy L, Peakman Georgia, Greaves Caroline V, Convery Rhian, Heslegrave Amanda, Rowe James B, Borroni Barbara, Galimberti Daniela, Tiraboschi Pietro, Masellis Mario, Tartaglia Maria Carmela, Finger Elizabeth, van Swieten John C, Seelaar Harro, Jiskoot Lize, Sorbi Sandro, Butler Chris R, Graff Caroline, Gerhard Alexander, Laforce Robert, Sanchez-Valle Raquel, de Mendonça Alexandre, Moreno Fermin, Synofzik Matthis, Vandenberghe Rik, Ducharme Simon, Ber Isabelle Le, Levin Johannes, Otto Markus, Pasquier Florence, Santana Isabel, Zetterberg Henrik, Rohrer Jonathan D, |
| Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype. Alzheimer's research & therapy 2022 Oct 14 (1): 151. Katisko Kasper, Huber Nadine, Kokkola Tarja, Hartikainen Päivi, Krüger Johanna, Heikkinen Anna-Leena, Paananen Veera, Leinonen Ville, Korhonen Ville E, Helisalmi Seppo, Herukka Sanna-Kaisa, Cantoni Valentina, Gadola Yasmine, Archetti Silvana, Remes Anne M, Haapasalo Annakaisa, Borroni Barbara, Solje Ei |
| Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes. European journal of nuclear medicine and molecular imaging 2022 1 49 (7): 2242-2250. Canosa Antonio, Calvo Andrea, Moglia Cristina, Vasta Rosario, Palumbo Francesca, Solero Luca, Di Pede Francesca, Cabras Sara, Arena Vincenzo, Zocco Grazia, Casale Federico, Brunetti Maura, Sbaiz Luca, Gallone Salvatore, Grassano Maurizio, Manera Umberto, Pagani Marco, Chiò Adria |
| Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes. European journal of neurology 2022 1 29 (5): 1524-1528. Tábuas-Pereira Miguel, Santana Isabel, Almeida Maria Rosário, Durães João, Lima Marisa, Duro Diana, Kun-Rodrigues Célia, Bras Jose, Guerreiro Ri |
| Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations. Brain communications 2023 4 5 (2): fcad087. Wiesenfarth Maximilian, Günther Kornelia, Müller Kathrin, Witzel Simon, Weiland Ulrike, Mayer Kristina, Herrmann Christine, Brenner David, Schuster Joachim, Freischmidt Axel, Lulé Dorothée, Meyer Thomas, Regensburger Martin, Grehl Torsten, Emmer Alexander, Petri Susanne, Großkreutz Julian, Rödiger Annekathrin, Steinbach Robert, Klopstock Thomas, Reilich Peter, Schöberl Florian, Wolf Joachim, Hagenacker Tim, Weyen Ute, Zeller Daniel, Ludolph Albert C, Dorst Johann |
| C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity. Frontiers in genetics 2023 3 14 1087098. Kaivola Karri, Pirinen Matti, Laaksovirta Hannu, Jansson Lilja, Rautila Osma, Launes Jyrki, Hokkanen Laura, Lahti Jari, Eriksson Johan G, Strandberg Timo E, FinnGen , Tienari Pentti |
| Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping 2023 3 . Bussy Aurélie, Levy Jake P, Best Tristin, Patel Raihaan, Cupo Lani, Van Langenhove Tim, Nielsen Jørgen E, Pijnenburg Yolande, Waldö Maria Landqvist, Remes Anne M, Schroeter Matthias L, Santana Isabel, Pasquier Florence, Otto Markus, Danek Adrian, Levin Johannes, Le Ber Isabelle, Vandenberghe Rik, Synofzik Matthis, Moreno Fermin, de Mendonça Alexandre, Sanchez-Valle Raquel, Laforce Robert, Langheinrich Tobias, Gerhard Alexander, Graff Caroline, Butler Chris R, Sorbi Sandro, Jiskoot Lize, Seelaar Harro, van Swieten John C, Finger Elizabeth, Tartaglia Maria Carmela, Masellis Mario, Tiraboschi Pietro, Galimberti Daniela, Borroni Barbara, Rowe James B, Bocchetta Martina, Rohrer Jonathan D, Devenyi Gabriel A, Chakravarty M Mallar, Ducharme Simon, |
| The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study. Journal of the neurological sciences 2023 2 446 120590. Jiskoot Lize C, Russell Lucy L, Peakman Georgia, Convery Rhian S, Greaves Caroline V, Bocchetta Martina, Poos Jackie M, Seelaar Harro, Giannini Lucia A A, van Swieten John C, van Minkelen Rick, Pijnenburg Yolande A L, Rowe James B, Borroni Barbara, Galimberti Daniela, Masellis Mario, Tartaglia Carmela, Finger Elizabeth, Butler Chris R, Graff Caroline, Laforce Robert, Sanchez-Valle Raquel, de Mendonça Alexandre, Moreno Fermin, Synofzik Matthis, Vandenberghe Rik, Ducharme Simon, le Ber Isabelle, Levin Johannes, Otto Markus, Pasquier Florence, Santana Isabel, Cash David M, Thomas David, Rohrer Jonathan D, |
| C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort. Annals of clinical and translational neurology 2023 2 . Tan Yi Jayne, Yong Alisa C W, Foo Jia Nee, Lian Michelle M, Lim Weng Khong, Dominguez Jacqueline, Fong Zhi Hui, Narasimhalu Kaavya, Chiew Hui Jin, Ng Kok Pin, Ting Simon K S, Kandiah Nagaendran, Ng Adeline S |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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