(Q50471729)

14 March 2018

title

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family (English)

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8

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Paolo Barone

9

object named as

Paolo Barone

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6

Marina Picillo

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11

Vincenzo Bonifati

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Simone Olgiati

1

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Anna De Rosa

2

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Marialuisa Quadri

3

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Chiara Criscuolo

4

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Guido J Breedveld

5

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Sabina Pappatà

7

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Giuseppe De Michele

10

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publication date

10 May 2014

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14 March 2018

published in

Neurogenetics

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volume

15

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issue

3

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page(s)

183-188

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Genetics of Parkinson's disease--state of the art, 2013.

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

Haploview: analysis and visualization of LD and haplotype maps

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

Novel parkin mutations detected in patients with early-onset Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

Alpha-synuclein and polyunsaturated fatty acids promote clathrin-mediated endocytosis and synaptic vesicle recycling

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

VPS35 mutations in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0406-0

10.1007/S10048-014-0406-0

21 January 2018

Identifiers

DOI

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14 March 2018

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14 March 2018