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Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonismLoss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)FBXO7 immunoreactivity in α-synuclein-containing inclusions in Parkinson disease and multiple system atrophyClinical features and neuroimaging of PARK7-linked parkinsonismLinking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's diseaseThe pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset ParkinsonismA common LRRK2 mutation in idiopathic Parkinson's diseaseComprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants.Novel parkin mutations detected in patients with early-onset Parkinson's disease.Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan.Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.How much phenotypic variation can be attributed to parkin genotype?Genetics of Parkinson's disease--state of the art, 2013.Dopaminergic neuronal loss and dopamine-dependent locomotor defects in Fbxo7-deficient zebrafish.Parkinson's disease: the LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics.Complex relationship between Parkin mutations and Parkinson disease.Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesisBroadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.Deciphering Parkinson's disease--PARK8.Clinical correlations with Lewy body pathology in LRRK2-related Parkinson diseaseBreakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression ProfilesA LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.The genetics of Parkinson's disease: progress and therapeutic implicationsLRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease.Common neurodegenerative diseases: dissection by genome-wide association.Recent advances in the genetics of dementia with lewy bodies.Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosisPallidopyramidal disease: a misnomer?Autosomal recessive parkinsonism.An update on the genetics of dementia with Lewy bodies.Genetics of movement disorders in the next-generation sequencing era.An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia.Effect of resveratrol on mitochondrial function: implications in parkin-associated familiar Parkinson's disease.Primary familial brain calcification: update on molecular genetics.
P50
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P50
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Vincenzo Bonifati
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Vincenzo Bonifati
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P1006
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P1006
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P7859
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