Alfredo Ramirez, MD, PhD
Alfredo Ramirez, MD, PhD
University of Bonn and University of Cologne
Adresse e-mail validée de uk-koeln.de
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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
24512013
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
10762006
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
4472001
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
4422003
G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
SM Pasternack, I von Kügelgen, K Al Aboud, YA Lee, F Rüschendorf, ...
Nature genetics 40 (3), 329-334, 2008
3932008
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
3922014
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
3642017
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
3232019
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
2382012
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
2212013
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
2122001
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
1842015
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), 1-16, 2018
1542018
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
1522016
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
1332010
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
1312013
Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients
A Rakovic, A Grünewald, P Seibler, A Ramirez, N Kock, S Orolicki, ...
Human molecular genetics 19 (16), 3124-3137, 2010
1252010
Rare missense variants in ATP1A2 in families with clustering of common forms of migraine
U Todt, M Dichgans, K Jurkat‐Rott, A Heinze, G Zifarelli, JB Koenderink, ...
Human mutation 26 (4), 315-321, 2005
972005
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
962018
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease
V Escott-Price, C Bellenguez, LS Wang, SH Choi, D Harold, L Jones, ...
PloS one 9 (6), e94661, 2014
962014
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