Number of the records: 1
Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn
Title Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn Author Šutovský S. Co-authors Smolek Tomáš SAVNEIMU - Neuroimunologický ústav SAV SCOPUS Jadhav Santosh SAVNEIMU - Neuroimunologický ústav SAV ORCID Novák Petr SAVNEIMU - Neuroimunologický ústav SAV SCOPUS Žilka Norbert SAVNEIMU - Neuroimunologický ústav SAV SCOPUS Co-authors Turčáni P. Petrovič R. Brandoburová P. Attems J. Source document Journal of Neural Transmission. Vol. 125 (2018 ), p.965-976 Language eng - English Document kind rozpis článkov z periodík (rbx) Citations MA, Limin - ZHANG, Jiewen - SHI, Yingying - WANG, Wan - REN, Zhixia - XIA, Mingrong - ZHANG, Yuanxing - YANG, Miaomiao. Gene mutations in a Han Chinese Alzheimer's disease cohort. In BRAIN AND BEHAVIOR. ISSN 2162-3279, 2019, vol. 9, no. 1, pp. FRISONI, Giovanni B. - ALTOMARE, Daniele - THAL, Dietmar Rudolf - RIBALDI, Federica - VAN DER KANT, Rik - OSSENKOPPELE, Rik - BLENNOW, Kaj - CUMMINGS, Jeffrey - VAN DUIJN, Cornelia - NILSSON, Peter M. - DIETRICH, Pierre-Yves - SCHELTENS, Philip - DUBOIS, Bruno. The probabilistic model of Alzheimer disease: the amyloid hypothesis revised. In NATURE REVIEWS NEUROSCIENCE. ISSN 1471-003X, 2021, vol., no., pp. Dostupné na: https://doi.org/10.1038/s41583-021-00533-w. KALARIA, Rajesh N. - SEPULVEDA-FALLA, Diego. Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease. In AMERICAN JOURNAL OF PATHOLOGY. ISSN 0002-9440, 2021, vol. 191, no. 11, pp. 1888-1905. Dostupné na: https://doi.org/10.1016/j.ajpath.2021.07.004. WILLUMSEN, Nanet - POOLE, Teresa - NICHOLAS, Jennifer M. - FOX, Nick C. - RYAN, Natalie S. - LASHLEY, Tammaryn. Variability in the type and layer distribution of cortical A beta pathology in familial Alzheimer's disease. In BRAIN PATHOLOGY. ISSN 1015-6305, 2021, vol., no., pp. Dostupné na: https://doi.org/10.1111/bpa.13009. SHIMADA, H. - MINATANI, S. - TAKEUCHI, J. - TAKEDA, A. - KAWABE, J. - WADA, Y. - MAWATARI, A. - WATANABE, Y. - SHIMADA, H. - HIGUCHI, M. - SUHARA, T. - TOMIYAMA, T. - ITOH, Y. Heavy Tau Burden with Subtle Amyloid beta Accumulation in the Cerebral Cortex and Cerebellum in a Case of Familial Alzheimer's Disease with APP Osaka Mutation. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. JUN 2020, vol. 21, no. 12. DEATON, C.A. - JOHNSON, G.V.W. Presenilin 1 Regulates Membrane Homeostatic Pathways that are Dysregulated in Alzheimer's Disease. In JOURNAL OF ALZHEIMERS DISEASE. ISSN 1387-2877, 2020, vol. 77, no. 3, p. 961-977. BLANCO, J.A. - ALONSO, A. - BLANCO, J. - ROJO, E. - TELLERIA, J.J. - TORRES, M.A. - URIBE, F. Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease. In NEUROBIOLOGY OF AGING. ISSN 0197-4580, DEC 2019, vol. 84. BAGARIA, Jaya - BAGYINSZKY, Eva - AN, Seong Soo A. Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. SEP 2022, vol. 23, no. 18. Dostupné na: https://doi.org/10.3390/ijms231810970. GELLER, Brian. The Role of Familial Alzheimer’s Disease Mutations in Mitochondrial Function and Neurodegeneration. Jan 01 2022. LIBARD, Sylwia - GIEDRAITIS, Vilmantas - KILANDER, Lena - INGELSSON, Martin - ALAFUZOFF, Irina. Mixed Pathologies in a Subject with a Novel iPSEN1/i G206R Mutation. In JOURNAL OF ALZHEIMERS DISEASE. ISSN 1387-2877, 2022, vol. 90, no. 4, p. 1601-1614. Dostupné na: https://doi.org/10.3233/JAD-220655. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2018 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1007/s00702-018-1850-z 
article
File name Access Size Downloaded Type License Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn.pdf Neprístupný/archív 3.4 MB 1 Publisher's version rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2018 2017 2.779 Q2 1.232 Q1
Number of the records: 1