The many faces of alpha-synuclein mutations

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

(2013) Maja Kojovic et al.   MOVEMENT DISORDERS

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

Genetics of Parkinson disease and other movement disorders

(2012) Kishore R. Kumar et al.   CURRENT OPINION IN NEUROLOGY

A case of α-synucleingene duplication presenting with head-shaking movements

(2012) Kaori Itokawa et al.   MOVEMENT DISORDERS

α-Synuclein Genetic Variants Predict Faster Motor Symptom Progression in Idiopathic Parkinson Disease

(2012) Beate Ritz et al.   PLoS One

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

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

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred)

(2011) Katrina Gwinn et al.   MOVEMENT DISORDERS

Parkinson's disease and α-synuclein expression

(2011) Michael J. Devine et al.   MOVEMENT DISORDERS

SNCA Triplication Parkinson's Patient's iPSC-derived DA Neurons Accumulate α-Synuclein and Are Susceptible to Oxidative Stress

(2011) Blake Byers et al.   PLoS One

CNS expression of glucocerebrosidase corrects  -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

(2011) S. P. Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

(2011) Michael J. Devine et al.   Nature Communications

Two Parkinson's disease patients with α-synuclein gene duplication and rapid cognitive decline

(2010) Chae Won Shin et al.   MOVEMENT DISORDERS

Clinical course of the first Asian family with Parkinsonism related to SNCA triplication

(2010) Takeshi Sekine et al.   MOVEMENT DISORDERS

The epidemiology of dementia associated with Parkinson disease

(2009) Dag Aarsland et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Expanding the clinical phenotype of SNCA duplication carriers

(2009) Kenya Nishioka et al.   MOVEMENT DISORDERS

α-Synuclein multiplication analysis in Italian familial Parkinson disease

(2009) Francesca Sironi et al.   PARKINSONISM & RELATED DISORDERS

Genomic investigation of α-synuclein multiplication and parkinsonism

(2008) Owen A. Ross et al.   ANNALS OF NEUROLOGY

Patients Homozygous and Heterozygous for SNCA Duplication in a Family With Parkinsonism and Dementia

(2008) Takeshi Ikeuchi et al.   ARCHIVES OF NEUROLOGY

CLINICOPATHOLOGIC STUDY OF A SNCA GENE DUPLICATION PATIENT WITH PARKINSON DISEASE AND DEMENTIA

(2008) T. Obi et al.   NEUROLOGY

PROMINENT PSYCHIATRIC SYMPTOMS AND GLUCOSE HYPOMETABOLISM IN A FAMILY WITH A SNCA DUPLICATION

(2008) T. Uchiyama et al.   NEUROLOGY

Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?

(2008) Andreas Puschmann et al.   PARKINSONISM & RELATED DISORDERS

Genetic variability in the SNCA gene influences α-synuclein levels in the blood and brain

(2007) Julia Fuchs et al.   FASEB JOURNAL