Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Syndrome and PRNP[original query] |
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| The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects. Journal of neurology 2003 Jun 250 (6): 688-92. Del Bo Roberto, Comi Giacomo Pietro, Giorda Roberto, Crimi Marco, Locatelli Federica, Martinelli-Boneschi Filippo, Pozzoli Uberto, Castelli Enrico, Bresolin Nereo, Scarlato Gugliel |
| Surgical outcome in mesial temporal sclerosis correlates with prion protein gene variant. Neurology 2003 Nov 61 (9): 1204-10. Walz R, Castro R M R P S, Velasco T R, Alexandre V, Lopes M H, Leite J P, Santos A C, Assirati J A, Wichert-Ana L, Terra-Bustamante V C, Bianchin M M, Maciag P C, Ribeiro K B, Guarnieri R, Araújo D, Cabalero O, Moura R, Salim A C M, Kindlmann K, Landemberger M C, Marques W, Fernandes R M F, Serafini L N, Machado H R, Carlotti C G, Brentani R R, Sakamoto A C, Martins V |
| High capacity and low cost detection of prion protein gene variant alleles by denaturing HPLC. Journal of neuroscience methods 2004 Oct 139 (2): 263-9. Castro Rosa Maria R P S, Landemberger Michele C, Walz Roger, Carlotti Carlos G, Huang Nancy, Cunha Danielle R, Moura Ricardo, Caballero Otávia L, Sakamoto Américo C, Nitrini Ricardo, Brentani Ricardo R, Martins Vilma |
| Cognitive performance of patients with mesial temporal lobe epilepsy is not associated with human prion protein gene variant allele at codons 129 and 171. Epilepsy & behavior : E&B 2006 May 8 (3): 635-42. Coimbra Erica R, Rezek Karinne, Escorsi-Rosset Sara, Landemberger Michele C, Castro Rosa M R P S, Valadão Michelle N, Guarnieri Ricardo, Velasco Tonicarlo R, Terra-Bustamante Vera C, Bianchin Marino M, Wichert-Ana Lauro, Alexandre Veriano, Brentani Ricardo R, Martins Vilma R, Sakamoto Américo C, Walz Rog |
| Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors. Brain : a journal of neurology 2011 Jun 134 (Pt 6): 1829-38. Kaski Diego N, Pennington Catherine, Beck Jon, Poulter Mark, Uphill James, Bishop Matthew T, Linehan Jaqueline M, O'Malley Catherine, Wadsworth Jonathan D F, Joiner Susan, Knight Richard S G, Ironside James W, Brandner Sebastian, Collinge John, Mead Sim |
| Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiology of aging 2012 Feb 33 (2): 426.e13-21. McNaughton Daniel, Knight William, Guerreiro Rita, Ryan Natalie, Lowe Jessica, Poulter Mark, Nicholl David J, Hardy John, Revesz Tamas, Lowe James, Rossor Martin, Collinge John, Mead Sim |
| The influence of PRNP polymorphisms on human prion disease susceptibility: an update. Acta neuropathologica 2015 Aug 130 (2): 159-70. Kobayashi Atsushi, Teruya Kenta, Matsuura Yuichi, Shirai Tsuyoshi, Nakamura Yoshikazu, Yamada Masahito, Mizusawa Hidehiro, Mohri Shirou, Kitamoto Tetsuyu |
| 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 |
| Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome. Clinical ophthalmology (Auckland, N.Z.) 2016 10 731-4. Giannakopoulos Marios P, Antonacopoulou Anna G, Kottorou Anastasia E, Kalofonos Haralabos P, Gartaganis Sotirios |
| Neuropsychological Symptoms in Sporadic Creutzfeldt-Jakob Disease Patients in Germany. Journal of Alzheimer's disease : JAD 2017 Jun . Krasnianski Anna, Bohling Geeske T, Heinemann Uta, Varges Daniela, Meissner Bettina, Schulz-Schaeffer Walter J, Reif Andreas, Zerr In |
| Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases. Molecular neurobiology 2018 8 56 (4): 2811-2821. Villar-Piqué Anna, Schmitz Matthias, Lachmann Ingolf, Karch André, Calero Olga, Stehmann Christiane, Sarros Shannon, Ladogana Anna, Poleggi Anna, Santana Isabel, Ferrer Isidre, Mitrova Eva, Žáková Dana, Pocchiari Maurizio, Baldeiras Inês, Calero Miguel, Collins Steven J, Geschwind Michael D, Sánchez-Valle Raquel, Zerr Inga, Llorens Fra |
| Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases. Brain : a journal of neurology 2022 3 145 (2): 700-712. Schmitz Matthias, Villar-Piqué Anna, Hermann Peter, Escaramís Geòrgia, Calero Miguel, Chen Cao, Kruse Niels, Cramm Maria, Golanska Ewa, Sikorska Beata, Liberski Pawel P, Pocchiari Maurizio, Lange Peter, Stehmann Christiane, Sarros Shannon, Martí Eulàlia, Baldeiras Inês, Santana Isabel, Žáková Dana, Mitrová Eva, Dong Xiao-Ping, Collins Steven, Poleggi Anna, Ladogana Anna, Mollenhauer Brit, Kovacs Gabor G, Geschwind Michael D, Sánchez-Valle Raquel, Zerr Inga, Llorens Fra |
| 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 |
| 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 |
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