A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson’s disease

D NAJC 6 Mutations Associated With Early-Onset Parkinson's Disease

(2016) Simone Olgiati et al.   ANNALS OF NEUROLOGY

Identification of TMEM230 mutations in familial Parkinson's disease

(2016) Han-Xiang Deng et al.   NATURE GENETICS

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

(2016) Hasmet A. Hanagasi et al.   PARKINSONISM & RELATED DISORDERS

SPTAN1 encephalopathy: distinct phenotypes and genotypes

(2015) Jun Tohyama et al.   JOURNAL OF HUMAN GENETICS

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J

(2015) Wen Zheng et al.   MOLECULAR NEUROBIOLOGY

The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

(2015) Ignacio F. Mata et al.   Molecular Neurodegeneration

Genetic overlap between Alzheimer’s disease and Parkinson’s disease at the MAPT locus

(2015) R S Desikan et al.   MOLECULAR PSYCHIATRY

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

The distinct genetic pattern of ALS in Turkey and novel mutations

(2015) Aslıhan Özoğuz et al.   NEUROBIOLOGY OF AGING

Splicing: is there an alternative contribution to Parkinson’s disease?

(2015) Valentina La Cognata et al.   NEUROGENETICS

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

(2014) Gabrielle R. Wilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion inKMT2A(MLL)

(2014) Bryce A. Mendelsohn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene

(2014) Valentina La Cognata et al.   CURRENT GENOMICS

Genetics and genomics of Parkinson’s disease

(2014) Michelle K Lin et al.   Genome Medicine

Alternative Splicing Generates Different Parkin Protein Isoforms: Evidences in Human, Rat, and Mouse Brain

(2014) Soraya Scuderi et al.   Biomed Research International

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

(2013) Tracy Tucker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2

(2013) Liyong Wang et al.   HUMAN MUTATION

Alzheimer's disease and Parkinson's disease genome-wide association study top hits and risk of Parkinson's disease in Korean population

(2013) Sun Ju Chung et al.   NEUROBIOLOGY OF AGING

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

(2013) Hossein Darvish et al.   NEUROSCIENCE LETTERS

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

(2013) Hyeon Kim et al.   Orphanet Journal of Rare Diseases

Genetics of Parkinson's Disease

(2013) C. Klein et al.   Cold Spring Harbor Perspectives in Medicine

Increased rate of sporadic and recurrent rare genic copy number variants in Parkinson's disease among Ashkenazi Jews

(2013) Xinmin Liu et al.   Molecular Genetics & Genomic Medicine

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

(2012) Barbara Wiśniowiecka-Kowalnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

(2012) Swaroop Aradhya et al.   GENETICS IN MEDICINE

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

(2012) Christina M. Lill et al.   PLoS Genetics

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

(2011) Marie-Christine Chartier-Harlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population

(2011) Xinmin Liu et al.   BMC Medical Genetics

Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

(2011) G. Piluso et al.   CLINICAL CHEMISTRY

Role of Mendelian genes in “sporadic” Parkinson's disease

(2011) Suzanne Lesage et al.   PARKINSONISM & RELATED DISORDERS

Copy Number Variation in Familial Parkinson Disease

(2011) Nathan Pankratz et al.   PLoS One

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis

(2010) Alessandra Ferlini et al.   BMC Medical Genetics

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

(2010) Ji-feng Guo et al.   JOURNAL OF NEUROLOGY

Accurate and objective copy number profiling using real-time quantitative PCR

(2010) Barbara D’haene et al.   METHODS

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome

(2009) Christina Zaleski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

(2009) Marwan K Tayeh et al.   GENETICS IN MEDICINE

Structural Chromosomal Variations in Neurological Diseases

(2009) Bernadette Kalman et al.   NEUROLOGIST

Genetic screening for mutations in the Nrdp1 gene in Parkinson disease patients in a Chinese population

(2009) Xiaoyun Mo et al.   PARKINSONISM & RELATED DISORDERS

Fine-mapping and candidate gene investigation within the PARK10 locus

(2008) Kristoffer Haugarvoll et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ATP13A2variability in Parkinson disease

(2008) Carles Vilariño-Güell et al.   HUMAN MUTATION