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| 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 |
| Clinico-genetic findings in 509 frontotemporal dementia patients. Molecular psychiatry 2021 Sep . Wagner Matias, Lorenz Georg, Volk Alexander E, Brunet Theresa, Edbauer Dieter, Berutti Riccardo, Zhao Chen, Anderl-Straub Sarah, Bertram Lars, Danek Adrian, Deschauer Marcus, Dill Veronika, Fassbender Klaus, Fliessbach Klaus, Götze Katharina S, Jahn Holger, Kornhuber Johannes, Landwehrmeyer Bernhard, Lauer Martin, Obrig Hellmuth, Prudlo Johannes, Schneider Anja, Schroeter Matthias L, Uttner Ingo, Vukovich Ruth, Wiltfang Jens, Winkler Andrea S, Zhou Qihui, Ludolph Albert C, , Oexle Konrad, Otto Markus, Diehl-Schmid Janine, Winkelmann Julia |
| Recognition memory and divergent cognitive profiles in prodromal genetic frontotemporal dementia. Cortex; a journal devoted to the study of the nervous system and behavior 2021 Jun 139 99-115. Barker Megan S, Manoochehri Masood, Rizer Sandra J, Appleby Brian S, Brushaber Danielle, Dev Sheena I, Devick Katrina L, Dickerson Bradford C, Fields Julie A, Foroud Tatiana M, Forsberg Leah K, Galasko Douglas R, Ghoshal Nupur, Graff-Radford Neill R, Grossman Murray, Heuer Hilary W, Hsiung Ging-Yuek, Kornak John, Litvan Irene, Mackenzie Ian R, Mendez Mario F, Pascual Belen, Rankin Katherine P, Rascovsky Katya, Staffaroni Adam M, Tartaglia Maria Carmela, Weintraub Sandra, Wong Bonnie, Boeve Bradley F, Boxer Adam L, Rosen Howard J, Goldman Jill, Huey Edward D, Cosentino Stephanie, |
| Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of neurology 2021 Mar . Bartoletti-Stella Anna, Vacchiano Veria, De Pasqua Silvia, Mengozzi Giacomo, De Biase Dario, Bartolomei Ilaria, Avoni Patrizia, Rizzo Giovanni, Parchi Piero, Donadio Vincenzo, Chiò Adriano, Pession Annalisa, Oppi Federico, Salvi Fabrizio, Liguori Rocco, Capellari Sabina, |
| Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population. Frontiers in neurology 2021 12 681595. López-Cáceres Andrea, Velasco-Rueda María, Garcia-Cifuentes Elkin, Zarante Ignacio, Matallana Dia |
Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.
Translational psychiatry 2021 9 11 (1): 451. Reus Lianne M, Jansen Iris E, Mol Merel O, van Ruissen Fred, van Rooij Jeroen, van Schoor Natasja M, Tesi Niccolò, Reinders Marcel J T, Huisman Martijn A, Holstege Henne, Visser Pieter Jelle, de Boer Sterre C M, Hulsman Marc, Ahmad Shahzad, Amin Najaf, Uitterlinden Andre G, Ikram Arfan, van Duijn Cornelia M, Seelaar Harro, Ramakers Inez H G B, Verhey Frans R J, van der Lugt Aad, Claassen Jurgen A H R, Jan Biessels Geert, De Deyn Peter Paul, Scheltens Philip, van der Flier Wiesje M, van Swieten John C, Pijnenburg Yolande A L, van der Lee Sven |
| The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients. Frontiers in aging neuroscience 2021 13 699836. Liu Li, Cui Bo, Chu Min, Cui Yue, Jing Donglai, Li Dan, Xie Kexin, Kong Yu, Xia Tianxinyu, Wang Chaodong, Wu Liyo |
| Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population. Acta neuropathologica communications 2020 Nov 8 (1): 187. Kaivola Karri, Salmi Samuli J, Jansson Lilja, Launes Jyrki, Hokkanen Laura, Niemi Anna-Kaisa, Majamaa Kari, Lahti Jari, Eriksson Johan G, Strandberg Timo, Laaksovirta Hannu, Tienari Pentti |
| Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia. Journal of neurology 2020 Feb . Poos J M, Jiskoot L C, Leijdesdorff S M J, Seelaar H, Panman J L, van der Ende E L, Mol M O, Meeter L H H, Pijnenburg Y A L, Donker Kaat L, de Jong F J, van Swieten J C, Papma J M, van den Berg |
| ALS phenotype is influenced by age, sex, and genetics: A population-based study. Neurology 2020 Jan . Chiò Adriano, Moglia Cristina, Canosa Antonio, Manera Umberto, D'Ovidio Fabrizio, Vasta Rosario, Grassano Maurizio, Brunetti Maura, Barberis Marco, Corrado Lucia, D'Alfonso Sandra, Iazzolino Barbara, Peotta Laura, Sarnelli Maria Francesca, Solara Valentina, Zucchetti Jean Pierre, De Marchi Fabiola, Mazzini Letizia, Mora Gabriele, Calvo Andr |
| Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Jan 16 (1): 118-130. Ramos Eliana Marisa, Dokuru Deepika Reddy, Van Berlo Victoria, Wojta Kevin, Wang Qing, Huang Alden Y, Deverasetty Sandeep, Qin Yue, van Blitterswijk Marka, Jackson Jazmyne, Appleby Brian, Bordelon Yvette, Brannelly Patrick, Brushaber Danielle E, Dickerson Bradford, Dickinson Susan, Domoto-Reilly Kimiko, Faber Kelley, Fields Julie, Fong Jamie, Foroud Tatiana, Forsberg Leah K, Gavrilova Ralitza, Ghoshal Nupur, Goldman Jill, Graff-Radford Jonathan, Graff-Radford Neill, Grant Ian, Grossman Murray, Heuer Hilary W, Hsiung Ging-Yuek R, Huey Edward, Irwin David, Kantarci Kejal, Karydas Anna, Kaufer Daniel, Kerwin Diana, Knopman David, Kornak John, Kramer Joel H, Kremers Walter, Kukull Walter, Litvan Irene, Ljubenkov Peter, Lungu Codrin, Mackenzie Ian, Mendez Mario F, Miller Bruce L, Onyike Chiadi, Pantelyat Alexander, Pearlman Rodney, Petrucelli Len, Potter Madeline, Rankin Katherine P, Rascovsky Katya, Roberson Erik D, Rogalski Emily, Shaw Leslie, Syrjanen Jeremy, Tartaglia Maria Carmela, Tatton Nadine, Taylor Joanne, Toga Arthur, Trojanowski John Q, Weintraub Sandra, Wong Bonnie, Wszolek Zbigniew, Rademakers Rosa, Boeve Brad F, Rosen Howard J, Boxer Adam L, , Coppola Giovan |
| [C9orf72-associated frontotemporal dementia in the Russian population]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2020 120 (9): 98-106. Shpilyukova Yu A, Fedotova E Yu, Berdnikovich E S, Konovalov R N, Zakharova M N, Grishina D A, Yakhno N N, Illarioshkin S |
| Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. The Lancet. Neurology 2019 Dec 18 (12): 1103-1111. van der Ende Emma L, Meeter Lieke H, Poos Jackie M, Panman Jessica L, Jiskoot Lize C, Dopper Elise G P, Papma Janne M, de Jong Frank Jan, Verberk Inge M W, Teunissen Charlotte, Rizopoulos Dimitris, Heller Carolin, Convery Rhian S, Moore Katrina M, Bocchetta Martina, Neason Mollie, Cash David M, Borroni Barbara, Galimberti Daniela, Sanchez-Valle Raquel, Laforce Robert, Moreno Fermin, Synofzik Matthis, Graff Caroline, Masellis Mario, Carmela Tartaglia Maria, Rowe James B, Vandenberghe Rik, Finger Elizabeth, Tagliavini Fabrizio, de Mendonça Alexandre, Santana Isabel, Butler Chris, Ducharme Simon, Gerhard Alex, Danek Adrian, Levin Johannes, Otto Markus, Frisoni Giovanni B, Cappa Stefano, Pijnenburg Yolande A L, Rohrer Jonathan D, van Swieten John C, |
| Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease. Neurobiology of aging 2019 Nov . Rosas Irene, Martínez Carmen, Clarimón Jordi, Lleó Alberto, Illán-Gala Ignacio, Dols-Icardo Oriol, Borroni Barbara, Almeida Maria Rosário, van der Zee Julie, Van Broeckhoven Christine, Bruni Amalia C, Anfossi Maria, Bernardi Livia, Maletta Raffaele, Serpente María, Galimberti Daniela, Scarpini Elio, Rossi Giacomina, Caroppo Paola, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Piaceri Irene, Bagnoli Silvia, Antonell Anna, Sánchez-Valle Raquel, De la Casa-Fages Beatriz, Grandas Francisco, Diez-Fairen Mónica, Pastor Pau, Ferrari Raffaele, Álvarez Victoria, Menéndez-González Manu |
| C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone. Neurobiology of aging 2019 Aug . Rubino Elisa, Di Stefano Marco, Galimberti Daniela, Serpente Maria, Scarpini Elio, Fenoglio Chiara, Bo Mario, Rainero Innocen |
| C9orf72 and intracerebral hemorrhage. Neurobiology of aging 2019 Jul . Hostettler Isabel C, Bernal-Quiros Manuel, Wong Andrew, Sharma Nikhil, Wilson Duncan, Seiffge David J, Shakeshaft Clare, Jäger Hans R, Cohen Hannah, Yousry Tarek, Al-Shahi Salman Rustam, Lip Gregory Y H, Brown Martin M, Muir Keith W, Werring David J, Houlden Henry, |
| Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. Neuro-degenerative diseases 2019 Mar 18 (5-6): 310-314. Origone Paola, Geroldi Alessandro, Lamp Merit, Sanguineri Francesca, Caponnetto Claudia, Cabona Corrado, Gotta Fabio, Trevisan Lucia, Bellone Emilia, Manganelli Fiore, Devigili Grazia, Mandich Pao |
| Correlation between Apolipoprotein E genotype and brain metabolism in amyotrophic lateral sclerosis. European journal of neurology 2018 Sep . Canosa Antonio, Pagani Marco, Brunetti Maura, Barberis Marco, Iazzolino Barbara, Ilardi Antonio, Cammarosano Stefania, Manera Umberto, Moglia Cristina, Calvo Andrea, Cistaro Angelina, Chiò Adria |
| No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis. Multiple sclerosis and related disorders 2018 Aug 25 192-195. Tiloca Cinzia, Sorosina Melissa, Esposito Federica, Peroni Silvia, Colombrita Claudia, Ticozzi Nicola, Ratti Antonia, Boneschi Filippo Martinelli, Silani Vincen |
| Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. JAMA neurology 2018 Jul 75 (7): 860-875. Karch Celeste M, Wen Natalie, Fan Chun C, Yokoyama Jennifer S, Kouri Naomi, Ross Owen A, Höglinger Gunter, Müller Ulrich, Ferrari Raffaele, Hardy John, Schellenberg Gerard D, Sleiman Patrick M, Momeni Parastoo, Hess Christopher P, Miller Bruce L, Sharma Manu, Van Deerlin Vivianna, Smeland Olav B, Andreassen Ole A, Dale Anders M, Desikan Rahul S, |
| Clinical exome sequencing in dementias: a preliminary study. Psychiatria Danubina 2018 Jun 30 (2): 216-219. Zalar Bojan, Maver Aleš, Kovanda Ana, Peterlin Ana, Peterlin Bor |
| Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement. Neurobiology of aging 2018 Apr . Ng Adeline Sl, Tan Yi Jayne, Yi Zhao, Tandiono Moses, Chew Elaine, Dominguez Jacqueline, Macas Mabel, Ng Ebonne, Hameed Shahul, Ting Simon, Tan Eng King, Foo Jia Nee, Kandiah Nagaendr |
| Genetics of dementia in a Finnish cohort. European journal of human genetics : EJHG 2018 Feb . Pasanen Petra, Myllykangas Liisa, Pöyhönen Minna, Kiviharju Anna, Siitonen Maija, Hardy John, Bras Jose, Paetau Anders, Tienari Pentti J, Guerreiro Rita, Verkkoniemi-Ahola Au |
| A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain : a journal of neurology 2018 10 141 (10): 2895-2907. Zhang Ming, Ferrari Raffaele, Tartaglia Maria Carmela, Keith Julia, Surace Ezequiel I, Wolf Uri, Sato Christine, Grinberg Mark, Liang Yan, Xi Zhengrui, Dupont Kyle, McGoldrick Philip, Weichert Anna, McKeever Paul M, Schneider Raphael, McCorkindale Michael D, Manzoni Claudia, Rademakers Rosa, Graff-Radford Neill R, Dickson Dennis W, Parisi Joseph E, Boeve Bradley F, Petersen Ronald C, Miller Bruce L, Seeley William W, van Swieten John C, van Rooij Jeroen, Pijnenburg Yolande, van der Zee Julie, Van Broeckhoven Christine, Le Ber Isabelle, Van Deerlin Vivianna, Suh EunRan, Rohrer Jonathan D, Mead Simon, Graff Caroline, Öijerstedt Linn, Pickering-Brown Stuart, Rollinson Sara, Rossi Giacomina, Tagliavini Fabrizio, Brooks William S, Dobson-Stone Carol, Halliday Glenda M, Hodges John R, Piguet Olivier, Binetti Giuliano, Benussi Luisa, Ghidoni Roberta, Nacmias Benedetta, Sorbi Sandro, Bruni Amalia C, Galimberti Daniela, Scarpini Elio, Rainero Innocenzo, Rubino Elisa, Clarimon Jordi, Lleó Alberto, Ruiz Agustin, Hernández Isabel, Pastor Pau, Diez-Fairen Monica, Borroni Barbara, Pasquier Florence, Deramecourt Vincent, Lebouvier Thibaud, Perneczky Robert, Diehl-Schmid Janine, Grafman Jordan, Huey Edward D, Mayeux Richard, Nalls Michael A, Hernandez Dena, Singleton Andrew, Momeni Parastoo, Zeng Zhen, Hardy John, Robertson Janice, Zinman Lorne, Rogaeva Ekaterina, |
| Thalamic atrophy in frontotemporal dementia - Not just a C9orf72 problem. NeuroImage. Clinical 2018 18 675-681. Bocchetta Martina, Gordon Elizabeth, Cardoso M Jorge, Modat Marc, Ourselin Sebastien, Warren Jason D, Rohrer Jonathan |
| Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort. Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 Nov 1-3. Kartanou Chrisoula, Karadima Georgia, Koutsis Georgios, Breza Marianthi, Papageorgiou Sokratis G, Paraskevas George P, Kapaki Elisabeth, Panas Mari |
| Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis. Neurobiology of aging 2017 Oct . Tsai Pei-Chien, Liao Yi-Chu, Chen Po-Lin, Guo Yuh-Cherng, Chen Ying-Hao, Jih Kang-Yang, Lin Kon-Ping, Soong Bing-Wen, Tsai Ching-Paio, Lee Yi-Chu |
| The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul . Blauwendraat Cornelis, Wilke Carlo, Simón-Sánchez Javier, Jansen Iris E, Reifschneider Anika, Capell Anja, Haass Christian, Castillo-Lizardo Melissa, Biskup Saskia, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matth |
| TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). Neurobiology of aging 2017 Jul . Rostgaard Nina, Roos Peter, Budtz-Jørgensen Esben, Johannsen Peter, Waldemar Gunhild, Nørremølle Anne, Lindquist Suzanne G, Gydesen Susanne, Brown Jeremy M, Collinge John, Isaacs Adrian M, , Nielsen Troels T, Nielsen Jørgen |
| Automatic MRI Quantifying Methods in Behavioral-Variant Frontotemporal Dementia Diagnosis. Dementia and geriatric cognitive disorders extra 0 8 (1): 51-59. Cajanus Antti, Hall Anette, Koikkalainen Juha, Solje Eino, Tolonen Antti, Urhemaa Timo, Liu Yawu, Haanpää Ramona M, Hartikainen Päivi, Helisalmi Seppo, Korhonen Ville, Rueckert Daniel, Hasselbalch Steen, Waldemar Gunhild, Mecocci Patrizia, Vanninen Ritva, van Gils Mark, Soininen Hilkka, Lötjönen Jyrki, Remes Anne |
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- Page last updated:Aug 10, 2022
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