Zobrazeno 1 - 10
of 327
pro vyhledávání: '"genetics [DNA]"'
Autor:
Eva Buck, Patrick Oeckl, Veselin Grozdanov, Verena Bopp, Julia K. Kühlwein, Wolfgang P. Ruf, Diana Wiesner, Francesco Roselli, Jochen H. Weishaupt, Albert C. Ludolph, Markus Otto, Karin M. Danzer
Publikováno v:
Acta neuropathologica 144, 161-164 (2022). doi:10.1007/s00401-022-02436-1
Elevated levels of neurofilament light chain (NF-L) in CSF and blood are linked to the presymptomatic and symptomatic phase of patients suffering from amyotrophic lateral sclerosis (ALS). However, whether the NF-L level in extracellular liquids like
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8997bd2e2b3925f840985f4c95041ffa
https://doi.org/10.1007/s00401-022-02436-1
https://doi.org/10.1007/s00401-022-02436-1
Autor:
Kosinski, Tomasz J.
In the search for the origins of the Slavs, many fields of science are referred to, of which in recent years, when it comes to ethnogenetic research, population genetics has clearly come to the fore. Genes, they say, don't lie. The only issue is the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1910ee3e0cd78c99cf642925acc752
Autor:
Liu, Ganqiang, Ni, Chunming, Zhan, Jiamin, Li, Weimin, Luo, Junfeng, Liao, Zhixiang, Locascio, Joseph J, Xian, Wenbiao, Chen, Ling, Pei, Zhong, Corvol, Jean-Christophe, Maple-Grødem, Jodi, Campbell, Meghan C, Elbaz, Alexis, Lesage, Suzanne, Brice, Alexis, Hung, Albert Y, Schwarzschild, Michael A, Hayes, Michael T, Wills, Anne-Marie, Ravina, Bernard, Shoulson, Ira, Taba, Pille, Kõks, Sulev, Beach, Thomas G, Cormier-Dequaire, Florence, Alves, Guido, Tysnes, Ole-Bjørn, Perlmutter, Joel S, Heutink, Peter, Van Hilten, Jacobus J, Barker, Roger A, Williams-Gray, Caroline H, Scherzer, Clemens R, International Genetics Of Parkinson Disease Progression (IGPP) Consortium
Publikováno v:
Brain. OXFORD UNIV PRESS
Brain
Brain 146(1), 42-49 (2023). doi:10.1093/brain/awac327
Brain
Brain 146(1), 42-49 (2023). doi:10.1093/brain/awac327
Liu et al. report that specific mitochondrial haplogroups are associated with the progression of cognitive decline in patients with Parkinson's disease, but not with the progression of motor impairment. Mitochondrial haplotypes may thus be useful for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::351f1296e645e629a15c7ce70e17d5e6
https://www.repository.cam.ac.uk/handle/1810/340417
https://www.repository.cam.ac.uk/handle/1810/340417
Autor:
Tomasz Próchnicki, Matilde B. Vasconcelos, Kim S. Robinson, Matthew S. J. Mangan, Dennis De Graaf, Kateryna Shkarina, Marta Lovotti, Lena Standke, Romina Kaiser, Rainer Stahl, Fraser G. Duthie, Maximilian Rothe, Kateryna Antonova, Lea-Marie Jenster, Zhi Heng Lau, Sarah Rösing, Nora Mirza, Clarissa Gottschild, Dagmar Wachten, Claudia Günther, Thomas A. Kufer, Florian I. Schmidt, Franklin L. Zhong, Eicke Latz
Publikováno v:
Nature immunology 24(4), 595-603 (2023). doi:10.1038/s41590-023-01451-y
Upon detecting pathogens or cell stress, several NOD-like receptors (NLRs) form inflammasome complexes with the adapter ASC and caspase-1, inducing gasdermin D (GSDMD)-dependent cell death and maturation and release of IL-1β and IL-18. The triggers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951cef744dde927be85ce561d1cb4398
Autor:
Yousuf Bakhit, Ina Schmitt, Ahlam Hamed, Etedal Ahmed A. Ibrahim, Inaam N. Mohamed, Sarah M. El-Sadig, Maha A. Elseed, Mohamed A. Alebeed, Mutaz T. Shaheen, Mohamed O. Ibrahim, Ali A. Elhassan, Khalid Eltom, Hiba A. Ali, Yousuf A. Ibrahim, Murad E. Almak, Rayan Abubaker, Mohamed Anwer Ahmed, Ahmed A. Abugrain, Salma M. Elrasheed, Mawia A. Omar, Mohamed A. Almahal, Abubaker A. MohamedSharif, Mohamed Y. Tahir, Sawazen M. Malik, Hazim S. Eldirdiri, Reem J. Khidir, Malaz T. Mohamed, Abdelmohaymin Abdalla, Farouk Yassen Omer, Liena E.O. Elsayed, Haydar El Hadi Babikir, Elfateh Abd-Allah Bukhari, Osheik Seidi, Ullrich Wüllner
Publikováno v:
Parkinsonism & related disorders 101, 6-8 (2022). doi:10.1016/j.parkreldis.2022.05.009
Several studies suggested a significant role of epigenetic changes, including alterations in miRNA, histone modifications, and DNA methylation of α-synuclein (SNCA) in Parkinson's disease (PD) pathogenicity. As of yet, only very few studies have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfd43c3609105238a4b9adf3563e5945
https://doi.org/10.1016/j.parkreldis.2022.05.009
https://doi.org/10.1016/j.parkreldis.2022.05.009
Autor:
Peter T. Nelson, Edward B. Lee, Matthew D. Cykowski, Irina Alafuzoff, Konstantinos Arfanakis, Johannes Attems, Carol Brayne, Maria M. Corrada, Brittany N. Dugger, Margaret E. Flanagan, Bernardino Ghetti, Lea T. Grinberg, Murray Grossman, Michel J. Grothe, Glenda M. Halliday, Masato Hasegawa, Suvi R. K. Hokkanen, Sally Hunter, Kurt Jellinger, Claudia H. Kawas, C. Dirk Keene, Naomi Kouri, Gabor G. Kovacs, James B. Leverenz, Caitlin S. Latimer, Ian R. Mackenzie, Qinwen Mao, Kirsty E. McAleese, Richard Merrick, Thomas J. Montine, Melissa E. Murray, Liisa Myllykangas, Sukriti Nag, Janna H. Neltner, Kathy L. Newell, Robert A. Rissman, Yuko Saito, S. Ahmad Sajjadi, Katherine E. Schwetye, Andrew F. Teich, Dietmar R. Thal, Sandra O. Tomé, Juan C. Troncoso, Shih-Hsiu J. Wang, Charles L. White, Thomas Wisniewski, Hyun-Sik Yang, Julie A. Schneider, Dennis W. Dickson, Manuela Neumann
Publikováno v:
Acta neuropathologica 145(2), 159-173 (2023). doi:10.1007/s00401-022-02524-2
An international consensus report in 2019 recommended a classification system for limbic-predominant age-related TDP-43 encephalopathy neuropathologic changes (LATE-NC). The suggested neuropathologic staging system and nomenclature have proven useful
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f72494332571ed755e236f6b2d683266
https://pubmed.ncbi.nlm.nih.gov/36512061
https://pubmed.ncbi.nlm.nih.gov/36512061
Autor:
Robert McFarland, Cornelia Kornblum, David R. Thorburn, Anu Suomalainen, Laurence A. Bindoff, Michelangelo Mancuso, Grainne S. Gorman, Thomas Klopstock, Y.S. Ng, Robert W. Taylor, Douglass M. Turnbull, Carolyn M. Sue
Publikováno v:
The lancet / Neurology 20(7), 573-584 (2021). doi:10.1016/S1474-4422(21)00098-3
Mitochondrial diseases are some of the most common inherited neurometabolic disorders, and major progress has been made in our understanding, diagnosis, and treatment of these conditions in the past 5 years. Development of national mitochondrial dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4274b1f361652904111cc4c8ac3c925b
https://doi.org/10.1016/s1474-4422(21)00098-3
https://doi.org/10.1016/s1474-4422(21)00098-3
Autor:
Moster, Mark L, Sergott, Robert C, Sadun, Alfredo A, DeBusk, Adam A, Carbonelli, Michele, Hage, Rabih, Priglinger, Siegfried, Karanjia, Rustum, Blouin, Laure, Taiel, Magali, Katz, Barrett, Sahel, José Alain, Newman, Nancy J, group, LHON study, Yu-Wai-Man, Patrick, Carelli, Valerio, Bryan, Molly Scannell, Smits, Gerard, Biousse, Valérie, Vignal-Clermont, Catherine, Klopstock, Thomas
Publikováno v:
Journal of Neuro-Ophthalmology
Journal of neuro-ophthalmology 41(3), 298-308 (2021). doi:10.1097/WNO.0000000000001316
Journal of neuro-ophthalmology 41(3), 298-308 (2021). doi:10.1097/WNO.0000000000001316
OBJECTIVE: This report presents a cross-sectional analysis of the baseline characteristics of subjects with Leber hereditary optic neuropathy enrolled in the gene therapy trials RESCUE and REVERSE, to illustrate the evolution of visual parameters ove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a859b80cf449813d0a2a3e53babfd2b
http://europepmc.org/articles/PMC8366757
http://europepmc.org/articles/PMC8366757
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 17; Pages: 9652
International journal of molecular sciences 23(17), 9652 (2022). doi:10.3390/ijms23179652 special issue: "Neurological Diseases: A Molecular Genetic Perspective"
International journal of molecular sciences 23(17), 9652 (2022). doi:10.3390/ijms23179652 special issue: "Neurological Diseases: A Molecular Genetic Perspective"
Amyotrophic Lateral Sclerosis (ALS) is a progressive and fatal neurodegenerative disease marked by death of motor neurons (MNs) present in the spinal cord, brain stem and motor cortex. Despite extensive research, the reason for neurodegeneration is s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::664975ccbe2bbcefa6d819315187f6aa
Autor:
Maik Pietzner, Robert Lorenz Chua, Eleanor Wheeler, Katharina Jechow, Julian D. S. Willett, Helena Radbruch, Saskia Trump, Bettina Heidecker, Hugo Zeberg, Frank L. Heppner, Roland Eils, Marcus A. Mall, J. Brent Richards, Leif-Erik Sander, Irina Lehmann, Sören Lukassen, Nicholas J. Wareham, Christian Conrad, Claudia Langenberg
Publikováno v:
Nature Communications
Nature Communications 13(1), 4484 (2022). doi:10.1038/s41467-022-31999-6
Nature Communications 13(1), 4484 (2022). doi:10.1038/s41467-022-31999-6
Funder: Wellcome Trust
Funder: National Institute for Health Research (NIHR)
Despite two years of intense global research activity, host genetic factors that predispose to a poorer prognosis of COVID-19 infection remain poorly understood. H
Funder: National Institute for Health Research (NIHR)
Despite two years of intense global research activity, host genetic factors that predispose to a poorer prognosis of COVID-19 infection remain poorly understood. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16738ccadd0ecff30336a65e217948cd