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PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.Genotype, haplotype and copy-number variation in worldwide human populationsLack of replication of association between GIGYF2 variants and Parkinson disease.Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report.Cervical dystonia and genetic common variation in the dopamine pathway.Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease.A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.Profiling transcription initiation in human aged brain using deep-CAGE.A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.Parkinson disease GWAS: the question of lumping or splitting is back again.ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease.Genomewide SNP assay reveals mutations underlying Parkinson diseaseParkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques
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P50
description
hulumtues
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researcher
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հետազոտող
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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J Simon-Sanchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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Javier Simón Sánchez
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P106
P21
P31
P4012
P496
0000-0001-5141-5829