Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 45 Records) |
| Query Trace: Dementia and PRNP[original query] |
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| Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiology of aging 2013 Aug . Beck J, Pittman A, Adamson G, Campbell T, Kenny J, Houlden H, Rohrer JD, de Silva R, Shoai M, Uphill J, Poulter M, Hardy J, Mummery CJ, Warren JD, Schott JM, Fox NC, Rossor MN, Collinge J, Mead S |
| Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Molecular neurodegeneration 2014 9 38. van Blitterswijk Marka, Mullen Bianca, Wojtas Aleksandra, Heckman Michael G, Diehl Nancy N, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
| Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of aging 2014 Dec 35 (12): 2881.e1-6. Sassi Celeste, Guerreiro Rita, Gibbs Raphael, Ding Jinhui, Lupton Michelle K, Troakes Claire, Al-Sarraj Safa, Niblock Michael, Gallo Jean-Marc, Adnan Jihad, Killick Richard, Brown Kristelle S, Medway Christopher, Lord Jenny, Turton James, Bras Jose, , Morgan Kevin, Powell John F, Singleton Andrew, Hardy Jo |
| Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene. BMJ open 2014 4 (5): e004968. Qina Temu, Sanjo Nobuo, Hizume Masaki, Higuma Maya, Tomita Makoto, Atarashi Ryuichiro, Satoh Katsuya, Nozaki Ichiro, Hamaguchi Tsuyoshi, Nakamura Yosikazu, Kobayashi Atsushi, Kitamoto Tetsuyuki, Murayama Shigeo, Murai Hiroyuki, Yamada Masahito, Mizusawa Hidehi |
| Evaluating pathogenic dementia variants in posterior cortical atrophy. Neurobiology of aging 2015 Oct . Carrasquillo Minerva M, Barber Imelda, Lincoln Sarah J, Murray Melissa E, Camsari Gamze Balci, Khan Qurat Ul Ain, Nguyen Thuy, Ma Li, Bisceglio Gina D, Crook Julia E, Younkin Steven G, Dickson Dennis W, Boeve Bradley F, Graff-Radford Neill R, Morgan Kevin, Ertekin-Taner Nilüf |
| Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China. Scientific reports 2016 Dec 6 38435. Zhang Weiwei, Jiao Bin, Xiao Tingting, Pan Chuzheng, Liu Xixi, Zhou Lin, Tang Beisha, Shen |
| Cerebrospinal Fluid Biomarker-Based Diagnosis of Sporadic Creutzfeldt-Jakob Disease: A Validation Study for Previously Established Cutoffs. Dementia and geriatric cognitive disorders 2017 1 43 (1-2): 71-80. Llorens Franc, Karch André, Golanska Ewa, Schmitz Matthias, Lange Peter, Sikorska Beata, Liberski Pawel P, Zerr In |
| Next Generation Sequencing Analysis in Early Onset Dementia Patients. Journal of Alzheimer's disease : JAD 2019 67 (1): 243-256. Bonvicini Cristian, Scassellati Catia, Benussi Luisa, Di Maria Emilio, Maj Carlo, Ciani Miriam, Fostinelli Silvia, Mega Anna, Bocchetta Martina, Lanzi Gaetana, Giacopuzzi Edoardo, Ferraboli Sergio, Pievani Michela, Fedi Virginia, Defanti Carlo Alberto, Giliani Silvia, , Frisoni Giovanni Battista, Ghidoni Roberta, Gennarelli Massi |
| Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation. Neuropsychiatric disease and treatment 2019 8 15 2003-2013. Bagyinszky Eva, Kang Min Ju, Pyun Jungmin, Giau Vo Van, An Seong Soo A, Kim SangY |
| Plasma total prion protein as a potential biomarker for neurodegenerative dementia: diagnostic accuracy in the spectrum of prion diseases. Neuropathology and applied neurobiology 2019 Jun . Llorens F, Villar-Piqué A, Schmitz M, Diaz-Lucena D, Wohlhage M, Hermann P, Goebel S, Schmidt I, Glatzel M, Hauw J-J, Sikorska B, Liberski P P, Riggert J, Ferrer I, Zerr |
| Genetic analyses of early-onset Alzheimer's disease using next generation sequencing. Scientific reports 2019 6 9 (1): 8368. Giau Vo Van, Bagyinszky Eva, Yang Young Soon, Youn Young Chul, An Seong Soo A, Kim Sang Y |
| Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration. Journal of Alzheimer's disease : JAD 2019 May . Luukkainen Laura, Helisalmi Seppo, Kytövuori Laura, Ahmasalo Riitta, Solje Eino, Haapasalo Annakaisa, Hiltunen Mikko, Remes Anne M, Krüger Johan |
| Prion protein codon 129 polymorphism in mild cognitive impairment and dementia: the Rotterdam Study. Brain communications 2020 9 2 (1): fcaa030. Karamuji?-?omi? Hata, Ahmad Shahzad, Lysen Thom S, Heshmatollah Alis, Roshchupkin Gennady V, Vernooij Meike W, Rozemuller Annemieke J M, Ikram Mohammad Arfan, Amin Najaf, van Duijn Cornelia |
| Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity. Frontiers in neurology 2020 12 11 596108. Parobkova Eva, van der Zee Julie, Dillen Lubina, Van Broeckhoven Christine, Rusina Robert, Matej Radosl |
| Development of prognostic models for survival and care status in sporadic Creutzfeldt-Jakob disease. Brain communications 2022 8 4 (4): fcac201. Nihat Ak?n, Ranson Janice M, Harris Dominique, McNiven Kirsty, Mok TzeHow, Rudge Peter, Collinge John, Llewellyn David J, Mead Sim |
| Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge. Alzheimer's research & therapy 2022 6 14 (1): 90. Chen Zhongyun, Chu Min, Liu Li, Zhang Jing, Kong Yu, Xie Kexin, Cui Yue, Ye Hong, Li Junjie, Wang Lin, Wu Liyo |
| 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 |
| Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism. Frontiers in aging neuroscience 2022 5 14 830602. Chen Zhongyun, Ma Jinghong, Liu Li, Liu Shuying, Zhang Jing, Chu Min, Wang Zhen, Chan Piu, Wu Liyo |
| Genetic analysis reveals novel variants for vascular cognitive impairment. Acta neurologica Scandinavica 2022 3 146 (1): 42-50. Mönkäre Saana, Kuuluvainen Liina, Schleutker Johanna, Bras Jose, Roine Susanna, Pöyhönen Minna, Guerreiro Rita, Myllykangas Lii |
| Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases. BMC medical genomics 2022 2 15 (1): 26. Tarozzi M, Bartoletti-Stella A, Dall'Olio D, Matteuzzi T, Baiardi S, Parchi P, Castellani G, Capellari |
| 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 |
| The cognitive phenotypes of Creutzfeldt-Jakob disease: comparison with secondary metabolic encephalopathy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 Jan . Giovagnoli Anna Rita, Di Fede Giuseppe, Rossi Giacomina, Moda Fabio, Grisoli Marina, Bugiani Or |
| Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders. Journal of the neurological sciences 2023 6 451 120707. Martin Paucar, José Laffita-Mesa, Valter Niemelä, Helena Malmgren, Inger Nennesmo, Kristina Lagerstedt-Robinson, Magnus Nordenskjöld, Per Svenningss |
| Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia. Clinical genetics 2023 5 . Haitian Nan, Li Liu, Zhongyun Chen, Min Chu, Jieying Li, Donglai Jing, Yihao Wang, Liyong |
| Two Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in PRNP gene. Prion 2023 11 17 (1): 141-144. Dong-Lin Liang, Qi Shi, Kang Xiao, Ruhan A, Wei Zhou, Xiao-Ping Do |
| NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L). Molecular biology reports 2023 10 . Michele Salemi, Luana G M Mandarà, Maria Grazia Salluzzo, Francesca A Schillaci, Roberto Castiglione, Angela Cordella, Roberta Iorio, Concetta Simona Perrotta, Raffaele Ferri, Corrado Roma |
| Prion Mutations in Republic of Republic of Korea, China, and Japan. International journal of molecular sciences 2023 1 24 (1): . Kim Dan Yeong, Shim Kyu Hwan, Bagyinszky Eva, An Seong Soo |
| Genetic variability of FOXP2 and its targets CNTNAP2 and PRNP in frontotemporal dementia: A pilot study in a southern Italian population. Heliyon 2024 6 10 (11): e31624. Paolina Crocco, Francesco De Rango, Francesco Bruno, Antonio Malvaso, Raffaele Maletta, Amalia C Bruni, Giuseppe Passarino, Giuseppina Rose, Serena Da |
| Cerebrospinal fluid p-tau181, 217, and 231 in definite Creutzfeldt-Jakob disease with and without concomitant pathologies. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 6 . Andreja Emerši?, Nicholas J Ashton, Agathe Vrillon, Juan Lantero-Rodriguez, Jernej Mlakar, Milica Gregori? Kramberger, Fernando Gonzalez-Ortiz, Przemys?aw R Kac, Maciej Dulewicz, Jörg Hanrieder, Eugeen Vanmechelen, Uroš Rot, Henrik Zetterberg, Thomas K Karikari, Saša ?u?nik, Kaj Blenn |
| Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations. Alzheimer's research & therapy 2024 6 16 (1): 127. Haitian Nan, Yeon-Jeong Kim, Min Chu, Dan Li, Jieying Li, Deming Jiang, Yiming Wu, Toshihisa Ohtsuka, Liyong |
- Page last reviewed:Feb 1, 2024
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