Seguir
Pilar Gómez-Garre
Pilar Gómez-Garre
Instituto de Biomedicina de Sevilla
No hay ninguna dirección de correo electrónico verificada.
Título
Citado por
Citado por
Año
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ...
The Lancet Neurology 18 (12), 1091-1102, 2019
15572019
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
JM Serratosa, P Gómez-Garre, ME Gallardo, B Anta, DBV de Bernabé, ...
Human molecular genetics 8 (2), 345-352, 1999
2601999
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
1772021
Genome‐wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: the GR@ ACE project
S Moreno‐Grau, I De Rojas, I Hernández, I Quintela, L Montrreal, ...
Alzheimer's & Dementia 15 (10), 1333-1347, 2019
1362019
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation
ME Fernández-Sánchez, O Criado-García, KE Heath, B García-Fojeda, ...
Human molecular genetics 12 (23), 3161-3171, 2003
1362003
Lafora disease due to EPM2B mutations: A clinical and genetic study
C Gómez-Abad, P Gómez-Garre, E Gutiérrez-Delicado, S Saygi, ...
Neurology 64 (6), 982-986, 2005
1272005
Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets
DA Kia, D Zhang, S Guelfi, C Manzoni, L Hubbard, RH Reynolds, J Botía, ...
JAMA neurology 78 (4), 464-472, 2021
1182021
GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease
S Jesus, I Huertas, I Bernal-Bernal, M Bonilla-Toribio, ...
PloS one 11 (12), e0167749, 2016
1092016
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
KJ Billingsley, IA Barbosa, S Bandrés-Ciga, JP Quinn, VJ Bubb, ...
npj Parkinson's Disease 5 (1), 8, 2019
1002019
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
RH Reynolds, J Botía, MA Nalls, J Hardy, SA Gagliano Taliun, M Ryten
npj Parkinson's Disease 5 (1), 6, 2019
912019
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12
SF Berkovic, JM Serratosa, HA Phillips, L Xiong, E Andermann, ...
Epilepsia 45 (9), 1054-1060, 2004
872004
Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results …
D Santos-García, T Deus Fonticoba, SC Ester, C Borrué, M Mata, ...
Elsevier, 2019
802019
Genome‐wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?
K Lohmann, A Schmidt, A Schillert, S Winkler, A Albanese, F Baas, ...
Movement Disorders 29 (7), 921-927, 2014
702014
Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31. 1
R Ros, P Gómez Garre, M Hirano, YF Tai, I Ampuero, L Vidal, A Rojo, ...
Annals of Neurology: Official Journal of the American Neurological …, 2005
692005
Low serum uric acid concentration in Parkinson's disease in southern Spain
S Jesus, I Perez, MT Cáceres‐Redondo, F Carrillo, M Carballo, ...
European journal of neurology 20 (1), 208-210, 2013
642013
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions
P Gomez-Garre, Y Sanz, SR de Córdoba, JM Serratosa
European Journal of Human Genetics 8 (12), 946-954, 2000
632000
Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score
H Iwaki, C Blauwendraat, MB Makarious, S Bandrés‐Ciga, HL Leonard, ...
Movement Disorders 35 (5), 774-780, 2020
612020
The genetic architecture of Parkinson disease in Spain: characterizing population‐specific risk, differential haplotype structures, and providing etiologic insight
S Bandres‐Ciga, S Ahmed, MS Sabir, C Blauwendraat, ...
Movement Disorders 34 (12), 1851-1863, 2019
542019
Genetic variability related to serum uric acid concentration and risk of Parkinson's disease
I González‐Aramburu, P Sánchez‐Juan, S Jesús, A Gorostidi, ...
Movement Disorders 28 (12), 1737-1740, 2013
542013
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene
F Díaz‐Otero, M Quesada, J Morales‐Corraliza, C Martínez‐Parra, ...
Epilepsia 49 (3), 516-520, 2008
522008
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20