Multiple system atrophy: the application of genetics in understanding etiology

LRRK2 exonic variants and risk of multiple system atrophy

(2014) M. G. Heckman et al.   NEUROLOGY

Should genetic testing for SCAs be included in the diagnostic workup for MSA?

(2014) H.-J. Kim et al.   NEUROLOGY

Mutant COQ2 in Multiple-System Atrophy

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

The Neurogenetics of Atypical Parkinsonian Disorders

(2014) Mary Clark et al.   SEMINARS IN NEUROLOGY

Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family With Hexanucleotide Repeat Expansions inC9orf72

(2014) Jill S. Goldman et al.   JAMA Neurology

Multiple System Atrophy and Repeat Expansions inC9orf72

(2014) Lucia V. Schottlaender et al.   JAMA Neurology

Lipid dysfunction and pathogenesis of multiple system atrophy

(2014) Jonathan M Bleasel et al.   Acta Neuropathologica Communications

A large ApoE ε4/ε4 homozygous cohort reveals no association with Parkinson’s disease

(2013) Manuel Multhammer et al.   ACTA NEUROLOGICA BELGICA

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?

(2013) Aoife P. Kiely et al.   ACTA NEUROPATHOLOGICA

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

SHC2 gene copy number in multiple system atrophy (MSA)

(2013) Marcus C. Ferguson et al.   CLINICAL AUTONOMIC RESEARCH

Whole-genome sequencing in health care

(2013) Carla G van El et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The natural history of multiple system atrophy: a prospective European cohort study

(2013) Gregor K Wenning et al.   LANCET NEUROLOGY

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

Systemic proteasome inhibition triggers neurodegeneration in a transgenic mouse model expressing human α-synuclein under oligodendrocyte promoter: implications for multiple system atrophy

(2012) Nadia Stefanova et al.   ACTA NEUROPATHOLOGICA

Association of Sequence Alterations in the Putative Promoter of RAB7L1 With a Reduced Parkinson Disease Risk

(2012) Ziv Gan-Or   ARCHIVES OF NEUROLOGY

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

(2012) Daniel S Lieber et al.   BMC Medical Genetics

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

(2012) M. F. Keller et al.   HUMAN MOLECULAR GENETICS

Involvement of Macroautophagy in Multiple System Atrophy and Protein Aggregate Formation in Oligodendrocytes

(2012) Lisa Schwarz et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

A large study reveals no association between APOE and Parkinson's disease

(2012) Monica Federoff et al.   NEUROBIOLOGY OF DISEASE

Neuronal to oligodendroglial alpha-synuclein redistribution in a double transgenic model of multiple system atrophy

(2012) Edward Rockenstein et al.   NEUROREPORT

SUMO-1 is Associated with a Subset of Lysosomes in Glial Protein Aggregate Diseases

(2012) Mathew B. Wong et al.   NEUROTOXICITY RESEARCH

TREM2 Variants in Alzheimer's Disease

(2012) Rita Guerreiro et al.   NEW ENGLAND JOURNAL OF MEDICINE

Increased Neuronal α-Synuclein Pathology Associates with Its Accumulation in Oligodendrocytes in Mice Modeling α-Synucleinopathies

(2012) Haya Kisos et al.   PLoS One

Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications

(2011) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

Modelling progressive autonomic failure in MSA: where are we now?

(2011) Sylvia Stemberger et al.   JOURNAL OF NEURAL TRANSMISSION

Distinct Roles In Vivo for the Ubiquitin-Proteasome System and the Autophagy-Lysosomal Pathway in the Degradation of  -Synuclein

(2011) D. Ebrahimi-Fakhari et al.   JOURNAL OF NEUROSCIENCE

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

(2011) Günter U Höglinger et al.   NATURE GENETICS

MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy

(2011) C. Vilarino-Guell et al.   NEUROLOGY

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

The neuropathology, pathophysiology and genetics of multiple system atrophy

(2011) Z. Ahmed et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Animal models of multiple system atrophy

(2011) P.-O. Fernagut et al.   NEUROSCIENCE

Myeloperoxidase Inhibition Ameliorates Multiple System Atrophy-Like Degeneration in a Transgenic Mouse Model

(2011) Nadia Stefanova et al.   NEUROTOXICITY RESEARCH

Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy

(2011) Hidenao Sasaki et al.   Molecular Brain

A comparison of changes in proteasomal subunit expression in the substantia nigra in Parkinson's disease, multiple system atrophy and progressive supranuclear palsy

(2010) Salma Bukhatwa et al.   BRAIN RESEARCH

Membrane Lipid Modification by Docosahexaenoic Acid (DHA) Promotes the Formation of α-Synuclein Inclusion Bodies Immunopositive for SUMO-1 in Oligodendroglial Cells After Oxidative Stress

(2010) Michael Riedel et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Membrane lipid modification by polyunsaturated fatty acids sensitizes oligodendroglial OLN-93 cells against oxidative stress and promotes up-regulation of heme oxygenase-1 (HSP32)

(2010) Annette Brand et al.   JOURNAL OF NEUROCHEMISTRY

Familial aggregation in atypical Parkinson’s disease: a case control study in multiple system atrophy and progressive supranuclear palsy

(2010) Jean-Sébastien Vidal et al.   JOURNAL OF NEUROLOGY

The phenotype spectrum of Japanese multiple system atrophy

(2010) T. Ozawa et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Role of TPPP/p25 on α-synuclein-mediated oligodendroglial degeneration and the protective effect of SIRT2 inhibition in a cellular model of multiple system atrophy☆

(2010) Takafumi Hasegawa et al.   NEUROCHEMISTRY INTERNATIONAL

Multiple system atrophy: current and future approaches to management

(2010) Olivier Flabeau et al.   Therapeutic Advances in Neurological Disorders

SNCA variants and multiple system atrophy

(2009) Ji Y. Yun et al.   ANNALS OF NEUROLOGY

SNCAvariants are associated with increased risk for multiple system atrophy

(2009) Sonja W. Scholz et al.   ANNALS OF NEUROLOGY

Reply to: SNCA variants are associated with increased risk of multiple system atrophy

(2009) Owen A. Ross et al.   ANNALS OF NEUROLOGY

Common vs. rare allele hypotheses for complex diseases

(2009) Nicholas J Schork et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems

(2009) Viktor I. Korolchuk et al.   FEBS LETTERS

Tubulin polymerization-promoting protein (TPPP/p25) is critical for oligodendrocyte differentiation

(2009) Attila Lehotzky et al.   GLIA

Pathogenesis of familial Parkinson’s disease: new insights based on monogenic forms of Parkinson’s disease

(2009) Taku Hatano et al.   JOURNAL OF NEUROCHEMISTRY

Multiple system atrophy: an update

(2009) Nadia Stefanova et al.   LANCET NEUROLOGY

Clinically probable multiple system atrophy with predominant parkinsonism associated with myotonic dystrophy type 2

(2009) Shen-Yang Lim et al.   MOVEMENT DISORDERS

Serum cholesterol levels and the risk of multiple system atrophy: A case-control study

(2009) Phil Hyu Lee et al.   MOVEMENT DISORDERS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Segmental copy number variation shapes tissue transcriptomes

(2009) Charlotte N Henrichsen et al.   NATURE GENETICS

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

(2009) Wataru Satake et al.   NATURE GENETICS

Genome-wide association study reveals genetic risk underlying Parkinson's disease

(2009) Javier Simón-Sánchez et al.   NATURE GENETICS

GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY

(2009) B. Segarane et al.   NEUROLOGY

Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism

(2009) J-Y Kim et al.   NEUROLOGY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy

(2009) Ammar Al-Chalabi et al.   PLoS One

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

PRNP M129V homozygosity in multiple system atrophy vs. Parkinson’s disease

(2008) Cyndya Shibao et al.   CLINICAL AUTONOMIC RESEARCH

Serine 129 Phosphorylation of α-Synuclein Induces Unfolded Protein Response-mediated Cell Death

(2008) Naoto Sugeno et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Associations between multiple system atrophy and polymorphisms ofSLC1A4,SQSTM1, andEIF4EBP1Genes

(2008) Hiroyuki Soma et al.   MOVEMENT DISORDERS

Second consensus statement on the diagnosis of multiple system atrophy

(2008) S. Gilman et al.   NEUROLOGY