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X
Simón-Sánchez, Javier
~ 14000  Ergebnisse:
Personensuche X
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1

Dissecting genetic architecture of rare dystonia: genetic, ..:

Atasu, Burcu ; Simón-Sánchez, Javier ; Hanagasi, Hasmet...
Journal of Medical Genetics.  , 2024
Link: https://doi.org/10.1136/..
 
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2

Assessment of the impact of a personalised nutrition interv..:

Karvela, Maria ; Golden, Caroline T. ; Bell, Nikeysha...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

A multi-omics dataset for the analysis of frontotemporal de..:

Menden, Kevin ; Francescatto, Margherita ; Nyima, Tenzin...
Scientific Data.  10 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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4

Homozygous BZRAP1 Mutations Cause Autosomal Recessive Dysto..:

Mencacci, Niccolo ; Brockmann, Marisa ; Pajusalu, Sander...
Neurology.  94 (2020)  15_supplement - p. , 2020
Link: https://doi.org/10.1212/..
 
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5

Correction to: A nonsynonymous mutation in PLCG2 reduces th..:

DESGESCO (Dementia Genetics Spanish Consortium) ; van der Lee, Sven J. ; Conway, Olivia J....
Acta Neuropathologica.  139 (2020)  5 - p. 959-962 , 2020
Link: https://doi.org/10.1007/..
 
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6

Genome-wide analyses as part of the international FTLD-TDP ..:

Pottier, Cyril ; Ren, Yingxue ; Perkerson III, Ralph B....
Acta Neuropathologica.  137 (2019)  6 - p. 879-899 , 2019
Link: https://doi.org/10.1007/..
 
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7

A nonsynonymous mutation in PLCG2 reduces the risk of Alzhe..:

DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank) ; van der Lee, Sven J. ; Conway, Olivia J....
Acta Neuropathologica.  138 (2019)  2 - p. 237-250 , 2019
Link: https://doi.org/10.1007/..
 
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8

The wide genetic landscape of clinical frontotemporal demen..:

Blauwendraat, Cornelis ; Wilke, Carlo ; Simón-Sánchez, Javier...
Genetics in Medicine.  20 (2018)  2 - p. 240-249 , 2018
Link: https://doi.org/10.1038/..
 
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9

Role of LRRK2 and SNCA in autosomal dominant Parkinson's di..:

Kessler, Christoph ; Atasu, Burcu ; Hanagasi, Hasmet...
Parkinsonism & Related Disorders.  48 (2018)  - p. 34-39 , 2018
Link: https://doi.org/10.1016/..
 
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10

No supportive evidence for TIA1 gene mutations in a Europea..:

Baradaran-Heravi, Yalda ; Dillen, Lubina ; Nguyen, Hung Phuoc...
Neurobiology of Aging.  69 (2018)  - p. 293.e9-293.e11 , 2018
Link: https://doi.org/10.1016/..
 
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11

O5‐04‐01: A RARE GENETIC VARIANT IN THE PLCG2 GENE IS ASSOC..:

Van der Lee, Sven J. ; Jansen, Iris E. ; Pletnikova, Olga...
Alzheimer's & Dementia.  14 (2018)  7S_Part_31 - p. , 2018
Link: https://doi.org/10.1016/..
 
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12

Discovery and functional prioritization of Parkinson's dise..:

International Parkinson's Disease Genetics Consortium (IPGDC) ; Jansen, Iris E. ; Ye, Hui...
Genome Biology.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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13

Lack of evidence for a role of genetic variation in TMEM230..:

Giri, Anamika ; Mok, Kin Y. ; Jansen, Iris...
Neurobiology of Aging.  50 (2017)  - p. 167.e11-167.e13 , 2017
Link: https://doi.org/10.1016/..
 
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14

Excessive burden of lysosomal storage disorder gene variant..:

Robak, Laurie A ; Jansen, Iris E ; van Rooij, Jeroen...
Brain.  140 (2017)  12 - p. 3191-3203 , 2017
Link: https://doi.org/10.1093/..
 
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15

Deletions at 22q11.2 in idiopathic Parkinson's disease: a c..:

Mok, Kin Y ; Sheerin, Una ; Simón-Sánchez, Javier...
The Lancet Neurology.  15 (2016)  6 - p. 585-596 , 2016
Link: https://doi.org/10.1016/..
 
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