(Q34521665)

2 August 2017

title

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease (English)

1 reference

2 August 2017

1 reference

16

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Suzanne Lesage

1

object named as

Suzanne Lesage

1 reference

2 August 2017

12

Thomas Gasser

1 reference

2 August 2017

13

John Hardy

1 reference

2 August 2017

10

Peter Heutink

1 reference

2 August 2017

7

Rita Guerreiro

1 reference

2 August 2017

15

Andrew Singleton

1 reference

2 August 2017

2

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Lee Darwent

Florence Cormier-Dequaire

6

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3

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Aude Nicolas

5

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Monica Federoff

9

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Elisa Majounie

8

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Nicholas W. Wood

11

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Christel Condroyer

4

object named as

Christel Condroyer

1 reference

2 August 2017

François Tison

14

1 reference

2 August 2017

French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC)

17

1 reference

2 August 2017

publication date

18 June 2015

1 reference

2 August 2017

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2 August 2017

volume

1

1 reference

2 August 2017

issue

1

1 reference

2 August 2017

page(s)

e9

1 reference

Parkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on α-synuclein

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821081

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821081

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821081

Isolation and characterization of a human novel RAB (RAB39B) gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821081

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821081

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27066548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27066548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/NXG.0000000000000009

1 reference

2 August 2017

1 reference

2 August 2017

1 reference