Related references
Note: Only part of the references are listed.High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2
Liyong Wang et al.
HUMAN MUTATION (2013)
Next-Generation Phenotyping Using the Parkin Example Time to Catch Up With Genetics
Anne Gruenewald et al.
JAMA NEUROLOGY (2013)
Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2)
Claudio Ruffmann et al.
ACTA NEUROPATHOLOGICA (2012)
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease
S. Y. Kim et al.
CLINICAL GENETICS (2012)
High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease
Jorge Luis Guerrero Camacho et al.
MOVEMENT DISORDERS (2012)
Identification of low-frequency variants associated with gout and serum uric acid levels
Patrick Sulem et al.
NATURE GENETICS (2011)
A rare variant in MYH6 is associated with high risk of sick sinus syndrome
Hilma Holm et al.
NATURE GENETICS (2011)
Copy Number Variation in Familial Parkinson Disease
Nathan Pankratz et al.
PLOS ONE (2011)
Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines
Jun Mitsui et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Predictors of Parkin Mutations in Early-Onset Parkinson Disease
Karen S. Marder et al.
ARCHIVES OF NEUROLOGY (2010)
Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update
Karen Nuytemans et al.
HUMAN MUTATION (2010)
Fine-scale recombination rate differences between sexes, populations and individuals
Augustine Kong et al.
NATURE (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2
D. M. Kay et al.
NEUROLOGY (2010)
Mendelian forms of Parkinson's disease
Thomas Gasser
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
Relative Contribution of Simple Mutations vs. Copy Number Variations in Five Parkinson Disease Genes in the Belgian Population
Karen Nuytemans et al.
HUMAN MUTATION (2009)
Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control
J. Brooks et al.
JOURNAL OF MEDICAL GENETICS (2009)
Parental origin of sequence variants associated with complex diseases
Augustine Kong et al.
NATURE (2009)
Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations
N. Pankratz et al.
NEUROLOGY (2009)
Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease
Soraya Bardien et al.
PARKINSONISM & RELATED DISORDERS (2009)
Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers
Norbert Brueggemann et al.
PARKINSONISM & RELATED DISORDERS (2009)
Risk of Parkinson disease in carriers of Parkin mutations - Estimation using the kin-cohort method
Yuanjia Wang et al.
ARCHIVES OF NEUROLOGY (2008)
Genomewide SNP assay reveals mutations underlying Parkinson disease
Javier Simon-Sanchez et al.
HUMAN MUTATION (2008)
Detection of sharing by descent, long-range phasing and haplotype imputation
Augustine Kong et al.
NATURE GENETICS (2008)
Parkin analysis in early onset Parkinson's disease
Francesca Sironi et al.
PARKINSONISM & RELATED DISORDERS (2008)
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls
S. Lesage et al.
JOURNAL OF MEDICAL GENETICS (2008)
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
Kai Wang et al.
GENOME RESEARCH (2007)
Deciphering the role of heterozygous mutations in genes associated with parkinsonism
Christine Klein et al.
LANCET NEUROLOGY (2007)
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
A. Di Fonzo et al.
NEUROLOGY (2007)
Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients
Denise M. Kay et al.
ANNALS OF NEUROLOGY (2007)
Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family
Anja Hiller et al.
MOVEMENT DISORDERS (2007)
Heterozygosity for a Mendelian disorder as a risk factor for complex disease
E. Sidransky
CLINICAL GENETICS (2006)
Influence of heterozygosity for Parkin mutation on onset age in familial Parkinson disease : The GenePD study
Mei Sun et al.
ARCHIVES OF NEUROLOGY (2006)
Case-control study of the Parkin gene in early-onset Parkinson disease
LN Clark et al.
ARCHIVES OF NEUROLOGY (2006)
Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation
NL Khan et al.
NEUROLOGY (2005)
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism
C Klein et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
K Hedrich et al.
NEUROLOGY (2004)
Distribution, type, and origin of Parkin mutations:: Review and case studies
K Hedrich et al.
MOVEMENT DISORDERS (2004)
Parkin-associated Parkinson's disease
R von Coelln et al.
CELL AND TISSUE RESEARCH (2004)
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
EM Valente et al.
SCIENCE (2004)
RING finger 1 mutations in Parkin produce altered localization of the protein
MR Cookson et al.
HUMAN MOLECULAR GENETICS (2003)
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease
CB Lücking et al.
ARCHIVES OF NEUROLOGY (2003)
The role of pathogenic DJ-1 mutations in Parkinson's disease
PM Abou-Sleiman et al.
ANNALS OF NEUROLOGY (2003)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease
SA Oliveira et al.
ANNALS OF NEUROLOGY (2003)
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
T Foroud et al.
NEUROLOGY (2003)
Problems of reporting genetic associations with complex outcomes
HM Colhoun et al.
LANCET (2003)
Parkin variants in north American Parkinson's disease: Cases and controls
SJ Lincoln et al.
MOVEMENT DISORDERS (2003)
A susceptibility gene for late-onset idiopathic Parkinson's disease
AA Hicks et al.
ANNALS OF NEUROLOGY (2002)
Progression of nigrostriatal dysfunction in a parkin kindred:: an [18F] dopa PET and clinical study
NL Khan et al.
BRAIN (2002)
Complex relationship between parkin mutations and Parkinson disease
A West et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations
K Hedrich et al.
NEUROLOGY (2002)
Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene
PP Pramstaller et al.
MOVEMENT DISORDERS (2002)
Lewy bodies and parkinsonism in families with parkin mutations
M Farrer et al.
ANNALS OF NEUROLOGY (2001)
The importance of gene dosage studies:: mutational analysis of the parkin gene in early-onset parkinsonism
K Hedrich et al.
HUMAN MOLECULAR GENETICS (2001)
Origin of the mutations in the parkin gene in europe:: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects
M Periquet et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Familial aggregation of Parkinson's disease in Iceland.
S Sveinbjörnsdóttir et al.
NEW ENGLAND JOURNAL OF MEDICINE (2000)
Protection of privacy by third-party encryption in genetic research in Iceland
JR Gulcher et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
H Shimura et al.
NATURE GENETICS (2000)
Association between early-onset Parkinson's disease and mutations in the parkin gene
CB Lücking et al.
NEW ENGLAND JOURNAL OF MEDICINE (2000)
Share Paper
