A53T in a parkinsonian family: a clinical update of the SNCA phenotypes (Q38850614)

7 September 2017

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title

A53T in a parkinsonian family: a clinical update of the SNCA phenotypes (English)

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7 September 2017

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1

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7 June 2020

Pasquale Nigro

2

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7 June 2020

Michele Romoli

3

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7 June 2020

Simone Simoni

5

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7 June 2020

Paolo Calabresi

6

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7 June 2020

author name string

Paolo Prontera

4

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7 June 2020

language of work or name

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1 June 2016

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Journal of Neural Transmission

7 September 2017

published in

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7 June 2020

volume

123

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7 June 2020

issue

11

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7 June 2020

page(s)

1301-1307

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

7 June 2020

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Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.

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Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

21 January 2018

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

21 January 2018

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A case of α-synuclein gene duplication presenting with head-shaking movements

21 January 2018

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A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

21 January 2018

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The many faces of alpha-synuclein mutations

21 January 2018

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

21 January 2018

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Autosomal dominant Parkinson's disease caused by SNCA duplications

21 January 2018

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Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers.

21 January 2018

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Novel alpha-synuclein-immunoreactive proteins in brain samples from the Contursi kindred, Parkinson's, and Alzheimer's disease.

21 January 2018

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Parkinson's disease: from monogenic forms to genetic susceptibility factors

21 January 2018

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G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome

21 January 2018

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Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease

21 January 2018

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Hereditary form of parkinsonism--dementia

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SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.

21 January 2018

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Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

21 January 2018

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Expanding the clinical phenotype of SNCA duplication carriers

21 January 2018

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Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.

21 January 2018

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Clinical phenotype in patients with alpha-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease

21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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12 December 2020

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12 December 2020

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Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27250986%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference