A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification (Q48398444)

11 February 2018

title

A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification (English)

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11 February 2018

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parkinsonian syndrome

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Chang-He Shi

1

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11 February 2018

Shu-Yu Zhang

2

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11 February 2018

Zhi-Hua Yang

3

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11 February 2018

Jing Yang

4

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11 February 2018

Dan-Dan Shang

5

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11 February 2018

Cheng-Yuan Mao

6

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11 February 2018

Hao Liu

7

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11 February 2018

Hai-Man Hou

8

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11 February 2018

Meng-Meng Shi

9

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11 February 2018

Jun Wu

10

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11 February 2018

Yu-Ming Xu

11

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11 February 2018

language of work or name

English

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publication date

1 December 2016

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11 February 2018

published in

Movement Disorders

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11 February 2018

volume

31

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11 February 2018

issue

12

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11 February 2018

page(s)

1905-1909

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11 February 2018

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

cites work

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Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

21 January 2018

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PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort

21 January 2018

1 reference

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review

21 January 2018

1 reference

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

21 January 2018

1 reference

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

21 January 2018

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

21 January 2018

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Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.

21 January 2018

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Diagnosis and initiation of treatment in Parkinson's disease

21 January 2018

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Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes

21 January 2018

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Performance comparison of four commercial human whole-exome capture platforms

21 January 2018

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The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing

21 January 2018

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Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

21 January 2018

1 reference

SOAP2: an improved ultrafast tool for short read alignment

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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CHCHD2 gene mutations in familial and sporadic Parkinson's disease

21 January 2018

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

21 January 2018

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RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.

21 January 2018

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RAB39B mutations are a rare finding in Parkinson disease patients.

21 January 2018

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

21 January 2018

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Emerging nexus between RAB GTPases, autophagy and neurodegeneration

21 January 2018

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The Parkinson's disease protein alpha-synuclein disrupts cellular Rab homeostasis

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.26828

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11 February 2018

release_fxrb6g5xbzb5lgos5r7ozophjq

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/fxrb6g5xbzb5lgos5r7ozophjq

mapped directly with Wikidata item

24 November 2022

based on heuristic

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11 February 2018