Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease

(2013) Silke Appel-Cresswell et al.   MOVEMENT DISORDERS

A novel  -synuclein missense mutation in Parkinson disease

(2013) C. Proukakis et al.   NEUROLOGY

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic mitochondrial DNA mutations in early parkinson and incidental lewy body disease

(2012) Michael T. Lin et al.   ANNALS OF NEUROLOGY

Replication stress and mechanisms of CNV formation

(2012) Martin F Arlt et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

(2012) K. Izawa et al.   DNA RESEARCH

Universal heteroplasmy of human mitochondrial DNA

(2012) B. A. I. Payne et al.   HUMAN MOLECULAR GENETICS

Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

(2012) Rachel Adihe Lokanga et al.   HUMAN MUTATION

Aneuploid Cells Are Differentially Susceptible to Caspase-Mediated Death during Embryonic Cerebral Cortical Development

(2012) S. E. Peterson et al.   JOURNAL OF NEUROSCIENCE

Monozygotic twins withLRRK2mutations: Genetically identical but phenotypically discordant

(2012) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Neuronal vulnerability, pathogenesis, and Parkinson's disease

(2012) David Sulzer et al.   MOVEMENT DISORDERS

The neuropathology of genetic Parkinson's disease

(2012) Markos Poulopoulos et al.   MOVEMENT DISORDERS

Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease

(2012) Georgia Xiromerisiou et al.   MOVEMENT DISORDERS

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

(2012) Alexej Abyzov et al.   NATURE

Exploring the variation within

(2012) Evan Z Macosko et al.   NATURE GENETICS

Reliable detection of subclonal single-nucleotide variants in tumour cell populations

(2012) Moritz Gerstung et al.   Nature Communications

SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes

(2011) Eugénie Mutez et al.   HUMAN MUTATION

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

(2011)   LANCET

Pathological roles of α-synuclein in neurological disorders

(2011) Kostas Vekrellis et al.   LANCET NEUROLOGY

The “somatic-spread” hypothesis for sporadic neurodegenerative diseases

(2011) Roger Pamphlett   MEDICAL HYPOTHESES

Neuropathology of sporadic Parkinson's disease: Evaluation and changes of concepts

(2011) Kurt A. Jellinger   MOVEMENT DISORDERS

Somatic retrotransposition alters the genetic landscape of the human brain

(2011) J. Kenneth Baillie et al.   NATURE

Copy number variation and selection during reprogramming to pluripotency

(2011) Samer M. Hussein et al.   NATURE

Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells

(2011) Roberto Valli et al.   Molecular Cytogenetics

Multi-organ distribution of phosphorylated α-synuclein histopathology in subjects with Lewy body disorders

(2010) Thomas G. Beach et al.   ACTA NEUROPATHOLOGICA

Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

(2010) Benjamín Rodríguez-Santiago et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines

(2010) Jun Mitsui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Selective Cell Death of Hyperploid Neurons in Alzheimer’s Disease

(2010) Thomas Arendt et al.   AMERICAN JOURNAL OF PATHOLOGY

Parkinson's disease: insights from pathways

(2010) M. R. Cookson et al.   HUMAN MOLECULAR GENETICS

The future of genetic research on neurodegeneration

(2010) Christine Van Broeckhoven   NATURE MEDICINE

Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations

(2010) Lata Vadlamudi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues

(2010) Hasmik Mkrtchyan et al.   PLoS One

LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?

(2010) Tatjana Singer et al.   TRENDS IN NEUROSCIENCES

α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism

(2009) Pablo Ibáñez   ARCHIVES OF NEUROLOGY

COLD-PCR-Enhanced High-Resolution Melting Enables Rapid and Selective Identification of Low-Level Unknown Mutations

(2009) C. A. Milbury et al.   CLINICAL CHEMISTRY

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening

(2009) Rolf H.A.M. Vossen et al.   HUMAN MUTATION

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

Incidental Lewy body disease restricted to the heart and stellate ganglia

(2009) Yasuo Miki et al.   MOVEMENT DISORDERS

L1 retrotransposition in human neural progenitor cells

(2009) Nicole G. Coufal et al.   NATURE

DNA repair deficiency and neurological disease

(2009) Peter J. McKinnon   NATURE REVIEWS NEUROSCIENCE

Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: Differential expression and pathological meaning

(2009) Ivan Y. Iourov et al.   NEUROBIOLOGY OF DISEASE

Olfactory dysfunction in pure autonomic failure: Implications for the pathogenesis of Lewy body diseases

(2009) David S. Goldstein et al.   PARKINSONISM & RELATED DISORDERS

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

(2009) S. A. Frank   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Is Parkinson's disease a prion disorder?

(2009) C. W. Olanow et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evidence that incidental Lewy body disease is pre-symptomatic Parkinson’s disease

(2008) Dennis W. Dickson et al.   ACTA NEUROPATHOLOGICA

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

(2008) Carl E.G. Bruder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling

(2008) Roy Bastien et al.   HUMAN MUTATION

Alpha-synuclein-immunopositive myenteric neurons and vagal preganglionic terminals: Autonomic pathway implicated in Parkinson's disease?

(2008) R.J. Phillips et al.   NEUROSCIENCE