A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

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Selective neuronal vulnerability in Parkinson disease

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The genetic background of Parkinson's disease: current progress and future prospects

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Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

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Identification of a LargeDNAJB2Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

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Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism

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Genomic instability in the PARK2 locus is associated with Parkinson’s disease

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Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

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Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations

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A general framework for estimating the relative pathogenicity of human genetic variants

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PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

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The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

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Vac14 Protein Multimerization Is a Prerequisite Step for Fab1 Protein Complex Assembly and Function

(2013) Tamadher A. Alghamdi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients

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Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS

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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

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Autoregulation of Parkin activity through its ubiquitin-like domain

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Performance of mutation pathogenicity prediction methods on missense variants

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Milestones in Parkinson's disease-Clinical and pathologic features

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Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

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α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism

(2009) Pablo Ibáñez   ARCHIVES OF NEUROLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

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The genetics of Parkinson's syndromes: a critical review

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Parkinson's disease

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Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays

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Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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