A53T in a parkinsonian family: a clinical update of the SNCA phenotypes
Published 2016 View Full Article
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Title
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes
Authors
Keywords
SNCA, α-synuclein, Parkinson’s disease, Genetics
Journal
JOURNAL OF NEURAL TRANSMISSION
Volume 123, Issue 11, Pages 1301-1307
Publisher
Springer Nature
Online
2016-06-02
DOI
10.1007/s00702-016-1578-6
References
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Related references
Note: Only part of the references are listed.- Autosomal dominant Parkinson's disease caused by SNCA duplications
- (2016) Takuya Konno et al. PARKINSONISM & RELATED DISORDERS
- Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family
- (2015) Simone Olgiati et al. PARKINSONISM & RELATED DISORDERS
- Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation
- (2015) Márcia M.G. Pimentel et al. PARKINSONISM & RELATED DISORDERS
- Rapid Eye Movement Sleep Behavior Disorder and Neurodegenerative Disease
- (2015) Michael Joseph Howell et al. JAMA Neurology
- Four Copies of SNCA Responsible for Autosomal Dominant Parkinson’s Disease in Two Italian Siblings
- (2015) Rosangela Ferese et al. Parkinsons Disease
- Parkinson Disease Genetics: A “Continuum” from Mendelian to Multifactorial Inheritance
- (2014) S. Petrucci et al. CURRENT MOLECULAR MEDICINE
- A novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology
- (2014) Petra Pasanen et al. NEUROBIOLOGY OF AGING
- A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism
- (2014) Eleanna Kara et al. JAMA Neurology
- 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
- G51D α-synuclein mutation causes a novel Parkinsonian-pyramidal syndrome
- (2013) Suzanne Lesage et al. ANNALS OF NEUROLOGY
- Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family
- (2013) Maja Kojovic et al. MOVEMENT DISORDERS
- Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees
- (2013) Antonio E. Elia et al. MOVEMENT DISORDERS
- Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
- (2013) Silke Appel-Cresswell et al. MOVEMENT DISORDERS
- The many faces of alpha-synuclein mutations
- (2013) Meike Kasten et al. MOVEMENT DISORDERS
- A novel -synuclein missense mutation in Parkinson disease
- (2013) C. Proukakis et al. NEUROLOGY
- Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease
- (2013) Dorota Hoffman-Zacharska et al. PARKINSONISM & RELATED DISORDERS
- Genetics of Parkinson's disease – state of the art, 2013
- (2013) Vincenzo Bonifati PARKINSONISM & RELATED DISORDERS
- Clinical and neuroimaging features of patient with early-onset Parkinson's disease with dementia carrying SNCA p.G51D mutation
- (2013) Takayoshi Tokutake et al. PARKINSONISM & RELATED DISORDERS
- Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions
- (2012) Heather Skirton et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A case of α-synucleingene duplication presenting with head-shaking movements
- (2012) Kaori Itokawa et al. MOVEMENT DISORDERS
- The validity and reliability of the Italian Olfactory Identification Test (IOIT) in healthy subjects and in Parkinson's disease patients
- (2012) Carlo Maremmani et al. PARKINSONISM & RELATED DISORDERS
- Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the α synuclein gene
- (2012) Beatriz Tijero et al. PARKINSONISM & RELATED DISORDERS
- SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes
- (2011) Eugénie Mutez et al. HUMAN MUTATION
- Initial neuropsychological impairments in patients with the E46K mutation of the α-synuclein gene (PARK 1)
- (2011) Johanne H. Somme et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- 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
- Errata
- (2010) Kay Seidel et al. ANNALS OF NEUROLOGY
- 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
- α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism
- (2009) Pablo Ibáñez ARCHIVES OF NEUROLOGY
- Parkinson's disease: from monogenic forms to genetic susceptibility factors
- (2009) S. Lesage et al. HUMAN MOLECULAR GENETICS
- 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
- PROMINENT PSYCHIATRIC SYMPTOMS AND GLUCOSE HYPOMETABOLISM IN A FAMILY WITH A SNCA DUPLICATION
- (2008) T. Uchiyama et al. NEUROLOGY
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