Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 70 Records) |
Query Trace: Primary Progressive Aphasia[original query] |
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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia. Scientific reports 2019 Jul 9 (1): 10854. Bonham Luke W, Steele Natasha Z R, Karch Celeste M, Broce Iris, Geier Ethan G, Wen Natalie L, Momeni Parastoo, Hardy John, Miller Zachary A, Gorno-Tempini Maria Luisa, Hess Christopher P, Lewis Patrick, Miller Bruce L, Seeley William W, Manzoni Claudia, Desikan Rahul S, Baranzini Sergio E, Ferrari Raffaele, Yokoyama Jennifer S, |
F-Flortaucipir in TDP-43 associated frontotemporal dementia. Scientific reports 2019 4 9 (1): 6082. Smith R, Santillo A F, Waldö M Landqvist, Strandberg O, Berron D, Vestberg S, van Westen D, van Swieten J, Honer M, Hansson |
F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes. Alzheimer's research & therapy 2019 2 11 (1): 13. Tsai Richard M, Bejanin Alexandre, Lesman-Segev Orit, LaJoie Renaud, Visani Adrienne, Bourakova Viktoriya, O'Neil James P, Janabi Mustafa, Baker Suzanne, Lee Suzee E, Perry David C, Bajorek Lynn, Karydas Anna, Spina Salvatore, Grinberg Lea T, Seeley William W, Ramos Eliana M, Coppola Giovanni, Gorno-Tempini Maria Luisa, Miller Bruce L, Rosen Howard J, Jagust William, Boxer Adam L, Rabinovici Gil |
The underacknowledged PPA-ALS: A unique clinicopathologic subtype with strong heritability. Neurology 2019 Feb . Tan Rachel H, Guennewig Boris, Dobson-Stone Carol, Kwok John B J, Kril Jillian J, Kiernan Matthew C, Hodges John R, Piguet Olivier, Halliday Glenda |
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts. Neurology 2020 9 95 (24): e3288-e3302. Costa Beatrice, Manzoni Claudia, Bernal-Quiros Manuel, Kia Demis A, Aguilar Miquel, Alvarez Ignacio, Alvarez Victoria, Andreassen Ole, Anfossi Maria, Bagnoli Silvia, Benussi Luisa, Bernardi Livia, Binetti Giuliano, Blackburn Daniel, Boada Mercè, Borroni Barbara, Bowns Lucy, Bråthen Geir, Bruni Amalia C, Chiang Huei-Hsin, Clarimon Jordi, Colville Shuna, Conidi Maria E, Cope Tom E, Cruchaga Carlos, Cupidi Chiara, Di Battista Maria Elena, Diehl-Schmid Janine, Diez-Fairen Monica, Dols-Icardo Oriol, Durante Elisabetta, Flisar Dušan, Frangipane Francesca, Galimberti Daniela, Gallo Maura, Gallucci Maurizio, Ghidoni Roberta, Graff Caroline, Grafman Jordan H, Grossman Murray, Hardy John, Hernández Isabel, Holloway Guy J T, Huey Edward D, Illán-Gala Ignacio, Karydas Anna, Khoshnood Behzad, Kramberger Milica G, Kristiansen Mark, Lewis Patrick A, Lleó Alberto, Madhan Gaganjit K, Maletta Raffaele, Maver Aleš, Menendez-Gonzalez Manuel, Milan Graziella, Miller Bruce, Mol Merel O, Momeni Parastoo, Moreno-Grau Sonia, Morris Chris M, Nacmias Benedetta, Nilsson Christer, Novelli Valeria, Öijerstedt Linn, Padovani Alessandro, Pal Suvankar, Panchbhaya Yasmin, Pastor Pau, Peterlin Borut, Piaceri Irene, Pickering-Brown Stuart, Pijnenburg Yolande A L, Puca Annibale A, Rainero Innocenzo, Rendina Antonella, Richardson Anna M T, Rogaeva Ekaterina, Rogelj Boris, Rollinson Sara, Rossi Giacomina, Rossmeier Carola, Rowe James B, Rubino Elisa, Ruiz Agustín, Sanchez-Valle Raquel, Sando Sigrid B, Santillo Alexander F, Saxon Jennifer, Scarpini Elio, Serpente Maria, Smirne Nicoletta, Sorbi Sandro, Suh EunRan, Tagliavini Fabrizio, Thompson Jennifer C, Trojanowski John Q, Van Deerlin Vivianna M, Van der Zee Julie, Van Broeckhoven Christine, van Rooij Jeroen, Van Swieten John C, Veronesi Arianna, Vitale Emilia, Waldö Maria L, Woodward Cathy, Yokoyama Jennifer, Escott-Price Valentina, Polke James M, Ferrari Raffaele, |
Effect of Functional BDNF and COMT Polymorphisms on Symptoms and Regional Brain Volume in Frontotemporal Dementia and Corticobasal Syndrome. The Journal of neuropsychiatry and clinical neurosciences 2020 May appineuropsych19100211. Huey Edward D, Fremont Rachel, Manoochehri Masood, Gazes Yunglin, Lee Seonjoo, Cosentino Stephanie, Tierney Michael, Wassermann Eric M, Momeni Parastoo, Grafman Jord |
In vivo staging of frontotemporal lobar degeneration TDP-43 type C pathology. Alzheimer's research & therapy 2020 3 12 (1): 34. Bocchetta Martina, Iglesias Espinosa Maria Del Mar, Lashley Tammaryn, Warren Jason D, Rohrer Jonathan |
Epilepsy in Neurodegenerative Dementias: A Clinical, Epidemiological, and EEG Study. Journal of Alzheimer's disease : JAD 2020 3 74 (3): 865-874. Arnaldi Dario, Donniaquio Andrea, Mattioli Pietro, Massa Federico, Grazzini Matteo, Meli Riccardo, Filippi Laura, Grisanti Stefano, Famà Francesco, Terzaghi Michele, Girtler Nicola, Brugnolo Andrea, Doglione Elisa, Pardini Matteo, Villani Flavio, Nobili Flav |
[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 |
Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations. Brain and behavior 2021 Aug . Feng Feng, Wang Hongfen, Liu Jiajin, Wang Zhanjun, Xu Baixuan, Zhao Kun, Tao Xiaoyong, He Zhengqing, Yang Fei, Huang Xushe |
Primary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Nonamyloid Logopenic Variant. Neurology 2021 May . Saracino Dario, Ferrieux Sophie, Noguès-Lassiaille Marie, Houot Marion, Funkiewiez Aurélie, Sellami Leila, Deramecourt Vincent, Pasquier Florence, Couratier Philippe, Pariente Jérémie, Géraudie Amandine, Epelbaum Stéphane, Wallon David, Hannequin Didier, Martinaud Olivier, Clot Fabienne, Camuzat Agnès, Bottani Simona, Rinaldi Daisy, Auriacombe Sophie, Sarazin Marie, Didic Mira, Boutoleau-Bretonnière Claire, Thauvin-Robinet Christel, Lagarde Julien, Roué-Jagot Carole, Sellal François, Gabelle Audrey, Etcharry-Bouyx Frédérique, Morin Alexandre, Coppola Cinzia, Levy Richard, Dubois Bruno, Brice Alexis, Colliot Olivier, Gorno-Tempini Maria Luisa, Teichmann Marc, Migliaccio Raffaella, Le Ber Isabelle, |
Functional decline in the aphasic variant of Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2021 4 17 (10): 1641-1648. Moeller Stacey, Sridhar Jaiashre, Martersteck Adam, Coventry Christina, Kuang Alan, Zhang Hui, Weintraub Sandra, Mesulam M-Marsel, Rogalski Emi |
Whole-Exome Sequencing and C9orf72 Analysis in Primary Progressive Aphasia. Journal of Alzheimer's disease : JAD 2021 2 80 (3): 985-990. Pytel Vanesa, Hernández-Lorenzo Laura, Torre-Fuentes Laura, Sanz Raúl, González Nieves, Cabrera-Martín María Nieves, Delgado-Álvarez Alfonso, Gómez-Pinedo Ulises, Matías-Guiu Jorge, Matias-Guiu Jordi |
Differences in Sex Distribution Between Genetic and Sporadic Frontotemporal Dementia. Journal of Alzheimer's disease : JAD 2021 Oct . de Boer Sterre C M, Riedl Lina, van der Lee Sven J, Otto Markus, Anderl-Straub Sarah, Landin-Romero Ramon, Sorrentino Federica, Fieldhouse Jay L P, Reus Lianne M, Vacaflor Blanca, Halliday Glenda, Galimberti Daniela, Diehl-Schmid Janine, Ducharme Simon, Piguet Olivier, Pijnenburg Yolande A |
Pathobiological Subtypes of Alzheimer Disease. Dementia and geriatric cognitive disorders 2021 1 49 (4): 321-333. Jellinger Kurt |
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 |
Loss of speech and functional impairment in Alzheimer's disease-related primary progressive aphasia: predictive factors of decline. Neurobiology of aging 2022 6 117 59-70. Mazzeo Salvatore, Polito Cristina, Lassi Michael, Bagnoli Silvia, Mattei Marta, Padiglioni Sonia, Berti Valentina, Lombardi Gemma, Giacomucci Giulia, De Cristofaro Maria Teresa, Passeri Alessandro, Ferrari Camilla, Nacmias Benedetta, Mazzoni Alberto, Sorbi Sandro, Bessi Valenti |
Sensitivity of the Social Behavior Observer Checklist to Early Symptoms of Patients With Frontotemporal Dementia. Neurology 2022 5 99 (5): e488-99. Toller Gianina, Cobigo Yann, Ljubenkov Peter A, Appleby Brian S, Dickerson Bradford C, Domoto-Reilly Kimiko, Fong Jamie C, Forsberg Leah K, Gavrilova Ralitza H, Ghoshal Nupur, Heuer Hilary W, Knopman David S, Kornak John, Lapid Maria I, Litvan Irene, Lucente Diane E, Mckenzie Ian R, McGinnis Scott M, Miller Bruce L, Pedraza Otto, Rojas Julio C, Staffaroni Adam M, Wong Bonnie, Wszolek Zbigniew K, Boeve Brad F, Boxer Adam L, Rosen Howard J, Rankin Katherine P, |
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, |
Examining the presence and nature of delusions in Alzheimer's disease and frontotemporal dementia syndromes. International journal of geriatric psychiatry 2022 2 37 (3): . Kumfor Fiona, Liang Cheng Tao, Hazelton Jessica L, Leyton Cristian E, Kaizik Cassandra, Devenney Emma, Connaughton Emily, Langdon Robyn, Mioshi Eneida, Kwok John B, Dobson-Stone Carol, Halliday Glenda M, Piguet Olivier, Hodges John R, Landin-Romero Ram |
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 |
Semantic variant primary progressive aphasia with a pathogenic variant p.Asp40Gly in the ANXA11 gene. European journal of neurology 2022 Oct 29 (10): 3124-3126. Kim Eun-Joo, Moon So Young, Kim Hee-Jin, Jung Na-Yeon, Lee Sun Min, Kim Young E |
Missing apolipoprotein E ?4 allele associated with nonamnestic Alzheimer's disease in a Tunisian population. Journal of genetics 2022 101 . Fray Saloua, Achouri-Rassas Afef, Belal Samir, Messaoud Tai |
Asymmetry of radiomics features in the white matter of patients with primary progressive aphasia. Frontiers in aging neuroscience 2023 5 15 1120935. Benedetta Tafuri, Marco Filardi, Daniele Urso, Valentina Gnoni, Roberto De Blasi, Salvatore Nigro, Giancarlo Logroscino, |
Evaluating the Association Between Genetically Proxied Neurodevelopmental Language Phenotypes and the Risk for Primary Progressive Aphasia. Neurology 2023 3 . Nassan Malik, Piras Ignazio S, Rogalski Emily, Geula Changiz, Mesulam M-Marsel, Huentelman Ma |
Addition of the FTD Module to the Neuropsychiatric Inventory improves classification of frontotemporal dementia spectrum disorders. Journal of neurology 2023 2 . Jiskoot Lize C, Russell Lucy L, Greaves Caroline V, van Schaik Esther, van den Berg Esther, Poos Jackie M, de Boer Liset, Donker Kaat Laura, Seelaar Harro, Pijnenburg Yolande A L, van Swieten John C, Rohrer Jonathan |
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 |
Binary reversals: a diagnostic sign in primary progressive aphasia. Journal of neurology, neurosurgery, and psychiatry 2023 12 . Eoin Mulroy, Lucy B Core, Anthipa Chokesuwattanaskul, Jeremy Cs Johnson, Phillip D Fletcher, Charles R Marshall, Anna Volkmer, Jonathan D Rohrer, Chris Jd Hardy, Martin N Rossor, Jason D Warr |
Clinical and cortical trajectories in non-fluent primary progressive aphasia and Alzheimer's disease: A role for emotion processing. Brain research 2024 1 1829 148777. Ramon Landin-Romero, Fiona Kumfor, Austin Ys Lee, Cristian Leyton, Olivier Pigu |
GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort. Journal of medical genetics 2024 1 . Caiyan Liu, Liling Dong, Jie Wang, Jie Li, Xinying Huang, Dan Lei, Chenhui Mao, Shanshan Chu, Longze Sha, Qi Xu, Bin Peng, Liying Cui, Jing G |
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- Page last updated:Apr 22, 2024
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