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Literature DB >> 24552873

Mosaicism of alpha-synuclein gene rearrangements: report of two unrelated cases of early-onset parkinsonism.

C Perandones¹, J C Giugni², D S Calvo², G B Raina², L De Jorge Lopez³, V Volpini³, C P Zabetian⁴, I F Mata⁴, M Caputo⁵, D Corach⁵, M Radrizzani⁶, F E Micheli².

Abstract

Entities: CellLine Chemical Disease Gene Mutation Species

Keywords: Gene multiplication; Mosaicism; Parkinson's disease; α-Synuclein

Mesh：

Substances：
alpha-Synuclein

Year: 2013 PMID： 24552873 PMCID： PMC4197942 DOI： 10.1016/j.parkreldis.2013.11.014

Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891

× No keyword cloud information.

9 in total

1. Alpha-synuclein immunoreactivity in minor salivary gland biopsies of Parkinson's disease patients.

Authors: Maria Graciela Cersósimo; Claudia Perandones; Federico Eduardo Micheli; Gabriela Beatriz Raina; Ana Maria Beron; Gustavo Nasswetter; Martin Radrizzani; Eduardo Elias Benarroch
Journal: Mov Disord Date: 2010-09-10 Impact factor: 10.338

2. Rapid screening for Native American mitochondrial and Y-chromosome haplogroups detection in routine DNA analysis.

Authors: Gala Zuccarelli; Evguenia Alechine; Mariela Caputo; Cecilia Bobillo; Daniel Corach; Andrea Sala
Journal: Forensic Sci Int Genet Date: 2010-09-28 Impact factor: 4.882

3. Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia.

Authors: T Obi; K Nishioka; O A Ross; T Terada; K Yamazaki; A Sugiura; M Takanashi; K Mizoguchi; H Mori; Y Mizuno; N Hattori
Journal: Neurology Date: 2008-01-15 Impact factor: 9.910

4. Inferring continental ancestry of argentineans from Autosomal, Y-chromosomal and mitochondrial DNA.

Authors: Daniel Corach; Oscar Lao; Cecilia Bobillo; Kristiaan van Der Gaag; Sofia Zuniga; Mark Vermeulen; Kate van Duijn; Miriam Goedbloed; Peter M Vallone; Walther Parson; Peter de Knijff; Manfred Kayser
Journal: Ann Hum Genet Date: 2010-01 Impact factor: 1.670

5. Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.

Authors: Monique M van Veghel-Plandsoen; Cokkie H Wouters; Joan N R Kromosoeto; Mariska C den Ridder-Klünnen; Dicky J J Halley; Ans M W van den Ouweland
Journal: Eur J Hum Genet Date: 2011-04-13 Impact factor: 4.246

6. CpG demethylation enhances alpha-synuclein expression and affects the pathogenesis of Parkinson's disease.

Authors: Lumine Matsumoto; Hiroshi Takuma; Akira Tamaoka; Hiroshi Kurisaki; Hidetoshi Date; Shoji Tsuji; Atsushi Iwata
Journal: PLoS One Date: 2010-11-24 Impact factor: 3.240

7. Genomic investigation of alpha-synuclein multiplication and parkinsonism.

Authors: Owen A Ross; Adam T Braithwaite; Lisa M Skipper; Jennifer Kachergus; Mary M Hulihan; Frank A Middleton; Kenya Nishioka; Julia Fuchs; Thomas Gasser; Demetrius M Maraganore; Charles H Adler; Lydie Larvor; Marie-Christine Chartier-Harlin; Christer Nilsson; J William Langston; Katrina Gwinn; Nobutaka Hattori; Matthew J Farrer
Journal: Ann Neurol Date: 2008-06 Impact factor: 10.422

8. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.

Authors: Pablo Ibáñez; Suzanne Lesage; Sabine Janin; Ebba Lohmann; Frank Durif; Alain Destée; Anne-Marie Bonnet; Christine Brefel-Courbon; Simon Heath; Diana Zelenika; Yves Agid; Alexandra Dürr; Alexis Brice
Journal: Arch Neurol Date: 2009-01

9. alpha-Synuclein gene duplication is present in sporadic Parkinson disease.

Authors: T-B Ahn; S Y Kim; J Y Kim; S-S Park; D S Lee; H J Min; Y K Kim; S E Kim; J-M Kim; H-J Kim; J Cho; B S Jeon
Journal: Neurology Date: 2007-07-11 Impact factor: 9.910

9 in total

1. Successful GPi stimulation in genetic Parkinson's disease caused by mosaicism of alpha-synuclein gene duplication: first description.

Authors: C Perandones; N Aráoz Olivos; G B Raina; L A Pellene; J C Giugni; D S Calvo; M Radrizzani; F Piedimonte; F E Micheli
Journal: J Neurol Date: 2014-11-20 Impact factor: 4.849

Mosaicism of alpha-synuclein gene rearrangements: report of two unrelated cases of early-onset parkinsonism.

1. Alpha-synuclein immunoreactivity in minor salivary gland biopsies of Parkinson's disease patients.

2. Rapid screening for Native American mitochondrial and Y-chromosome haplogroups detection in routine DNA analysis.

3. Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia.

4. Inferring continental ancestry of argentineans from Autosomal, Y-chromosomal and mitochondrial DNA.

5. Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.

6. CpG demethylation enhances alpha-synuclein expression and affects the pathogenesis of Parkinson's disease.

7. Genomic investigation of alpha-synuclein multiplication and parkinsonism.

8. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.

9. alpha-Synuclein gene duplication is present in sporadic Parkinson disease.

1. Successful GPi stimulation in genetic Parkinson's disease caused by mosaicism of alpha-synuclein gene duplication: first description.

Review 2. The contribution of CNVs to the most common aging-related neurodegenerative diseases.

Review 3. Genetics of synucleins in neurodegenerative diseases.

Review 4. α-Synuclein and Parkinsonism: Updates and Future Perspectives.

5. Letter to the Editor: Hypothesis: Somatic Mosaicism and Parkinson Disease.

Review 6. Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.

Review 7. The role of de novo mutations in adult-onset neurodegenerative disorders.

8. The Pathogenic Role of Low Range Repeats in SCA17.

Review 9. Genomic Mosaicism Formed by Somatic Variation in the Aging and Diseased Brain.