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Alfredo Ramirez, MD, PhD
Alfredo Ramirez, MD, PhD
University of Bonn and University of Cologne
在 uk-koeln.de 的电子邮件经过验证
标题
引用次数
引用次数
年份
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
JC Lambert, CA Ibrahim-Verbaas, D Harold, AC Naj, R Sims, ...
Nature genetics 45 (12), 1452-1458, 2013
44132013
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
BW Kunkle, B Grenier-Boley, R Sims, JC Bis, V Damotte, AC Naj, ...
Nature genetics 51 (3), 414-430, 2019
22622019
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
A Ramirez, A Heimbach, J Gründemann, B Stiller, D Hampshire, LP Cid, ...
Nature genetics 38 (10), 1184-1191, 2006
14382006
New insights into the genetic etiology of Alzheimer’s disease and related dementias
C Bellenguez, F Küçükali, IE Jansen, L Kleineidam, S Moreno-Grau, ...
Nature genetics 54 (4), 412-436, 2022
9812022
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
R Sims, SJ Van Der Lee, AC Naj, C Bellenguez, N Badarinarayan, ...
Nature genetics 49 (9), 1373-1384, 2017
9212017
TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis
G Kleinberger, Y Yamanishi, M Suárez-Calvet, E Czirr, E Lohmann, ...
Science translational medicine 6 (243), 243ra86-243ra86, 2014
7502014
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7412021
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
G Davies, M Lam, SE Harris, JW Trampush, M Luciano, WD Hill, ...
Nature communications 9 (1), 2098, 2018
6172018
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
H Bolz, B von Brederlow, A Ramírez, EC Bryda, K Kutsche, HG Nothwang, ...
Nature genetics 27 (1), 108-112, 2001
5412001
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
K Haug, M Warnstedt, AK Alekov, T Sander, A Ramírez, B Poser, ...
Nature genetics 33 (4), 527-532, 2003
4732003
G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
SM Pasternack, I von Kügelgen, KA Aboud, YA Lee, F Rüschendorf, ...
Nature genetics 40 (3), 329-334, 2008
4692008
Common polygenic variation enhances risk prediction for Alzheimer’s disease
V Escott-Price, R Sims, C Bannister, D Harold, M Vronskaya, E Majounie, ...
Brain 138 (12), 3673-3684, 2015
4272015
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration
B Dehay, A Ramirez, M Martinez-Vicente, C Perier, MH Canron, ...
Proceedings of the National Academy of Sciences 109 (24), 9611-9616, 2012
3822012
A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
J van der Zee, I Gijselinck, L Dillen, T Van Langenhove, J Theuns, ...
Human mutation 34 (2), 363-373, 2013
3242013
A novel Alzheimer disease locus located near the gene encoding tau protein
G Jun, CA Ibrahim-Verbaas, M Vronskaya, JC Lambert, J Chung, AC Naj, ...
Molecular psychiatry 21 (1), 108-117, 2016
2902016
Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World …
P Lewczuk, P Riederer, SE O’bryant, MM Verbeek, B Dubois, PJ Visser, ...
The world journal of biological psychiatry 19 (4), 244-328, 2018
2532018
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
RC Betz, BGH Schoser, D Kasper, K Ricker, A Ramírez, V Stein, ...
Nature genetics 28 (3), 218-219, 2001
2472001
Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts
A Grünewald, L Voges, A Rakovic, M Kasten, H Vandebona, ...
PloS one 5 (9), e12962, 2010
1882010
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
I De Rojas, S Moreno-Grau, N Tesi, B Grenier-Boley, V Andrade, ...
Nature communications 12 (1), 3417, 2021
1872021
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
K Lohmann, RA Wilcox, S Winkler, A Ramirez, A Rakovic, JS Park, B Arns, ...
Annals of neurology 73 (4), 537-545, 2013
1782013
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