about
Identification of a novel Krueppel-related zinc finger gene (ZNF184) mapping to 6p21.3Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson diseaseGIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signalingThe alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanksIdentification of common variants influencing risk of the tauopathy progressive supranuclear palsy.Genomewide association study for onset age in Parkinson disease.Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control studyHuntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.Replication of association between ELAVL4 and Parkinson disease: the GenePD study.Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD StudyThe Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.Generation of a transcription map distal to HLA-F.Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.Creation of a library of induced pluripotent stem cells from Parkinsonian patients.The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesLRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian populationAlpha-synuclein repeat variants and survival in Parkinson's diseaseMicrotubule destabilization is shared by genetic and idiopathic Parkinson's disease patient fibroblasts.Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.Glucocerebrosidase mutations in primary parkinsonismATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study.Alpha-Synuclein Expression in the Oligodendrocyte Lineage: an In Vitro and In Vivo Study Using Rodent and Human Models.Large-scale assessment of polyglutamine repeat expansions in Parkinson diseaseSNCA variants are associated with increased risk for multiple system atrophy.Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.A genome-wide association study in multiple system atrophy.DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients.Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.Dementia in Parkinson's disease: Is male gender a risk factor?Analysis of nucleotide variations in genes of iron management in patients of Parkinson's disease and other movement disorders.The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3pC9orf72 repeat expansions are restricted to the ALS-FTD spectrum.Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.Parkinson's disease beyond 20 years.Opioid K receptor variant is associated with a delayed onset of dyskinesias in Parkinson's disease.
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Stefano Goldwurm
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Stefano Goldwurm
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Stefano Goldwurm
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Stefano Goldwurm
@nl
Stefano Goldwurm
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type
label
Stefano Goldwurm
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Stefano Goldwurm
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Stefano Goldwurm
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Stefano Goldwurm
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Stefano Goldwurm
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Goldwurm S
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prefLabel
Stefano Goldwurm
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Stefano Goldwurm
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Stefano Goldwurm
@es
Stefano Goldwurm
@nl
Stefano Goldwurm
@sl
P1053
Q-8978-2016
P106
P1153
6603054426
P21
P31
P3829
P4012
P496
0000-0002-1651-567X