(Q42675954)

English

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

scientific article published on 7 August 2014

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scholarly article

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Europe PubMed Central

PubMed publication ID

4 November 2017

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder (English)

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Europe PubMed Central

PubMed publication ID

4 November 2017

congenital disorder

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based on heuristic

inferred from title

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9

object named as

Guy A Rouleau

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4 November 2017

12

object named as

Myriam Srour

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4 November 2017

author name string

Iltaf Ahmed

1

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4 November 2017

Kirti Mittal

2

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4 November 2017

Taimoor I Sheikh

3

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4 November 2017

Nasim Vasli

4

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4 November 2017

Muhammad Arshad Rafiq

5

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4 November 2017

Anna Mikhailov

6

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4 November 2017

Mehrnaz Ohadi

7

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4 November 2017

Huda Mahmood

8

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4 November 2017

Attya Bhatti

10

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4 November 2017

Muhammad Ayub

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4 November 2017

Peter John

13

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4 November 2017

John B Vincent

14

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4 November 2017

publication date

7 August 2014

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4 November 2017

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4 November 2017

133

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11

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1419-1429

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4 November 2017

https://scigraph.springernature.com/pub.10.1007/s00439-014-1475-8

0 references

Developmental and benign movement disorders in childhood

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Separate ipsilateral and contralateral corticospinal projections in congenital mirror movements: Neurophysiological evidence and significance for motor rehabilitation.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

SHRiMP2: sensitive yet practical SHort Read Mapping

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

A novel DCC mutation and genetic heterogeneity in congenital mirror movements.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

RAD51 haploinsufficiency causes congenital mirror movements in humans

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

RAD51 deficiency disrupts the corticospinal lateralization of motor control

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Congenital mirror movements: a clue to understanding bimanual motor control

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Identification of cooperative genes for NUP98-HOXA9 in myeloid leukemogenesis using a mouse model

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

A non-organic and non-enzymatic extraction method gives higher yields of genomic DNA from whole-blood samples than do nine other methods tested

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Dynein axonemal intermediate chain 2 is required for formation of the left-right body axis and kidney in medaka.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Direct binding of TUBB3 with DCC couples netrin-1 signaling to intracellular microtubule dynamics in axon outgrowth and guidance

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

PERSISTENT MIRROR MOVEMENTS: A CLINICAL STUDY OF 17 CHILDREN, ADOLESCENTS AND YOUNG ADULTS

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Hereditary Mirror Movements

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Towards a proteome-scale map of the human protein–protein interaction network

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Detection and integration of genotyping errors in statistical genetics

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Familial congenital mirror movements: report of a large 4-generation family

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Mutations in DCC cause congenital mirror movements.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Three members of the LC8/DYNLL family are required for outer arm dynein motor function

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Transmembrane receptor DCC associates with protein synthesis machinery and regulates translation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1475-8

21 January 2018

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

https://pubmed.ncbi.nlm.nih.gov/25098561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interhemispheric control of unilateral movement

1 reference

https://pubmed.ncbi.nlm.nih.gov/25098561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital mirror movements. Abnormal organization of motor pathways in two patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/25098561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the 8 kDa dynein light chain gene disrupt sensory axon projections in the Drosophila imaginal CNS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25098561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Persistent mirror movements: a clinical study of 17 children, adolescents and young adults

1 reference

https://pubmed.ncbi.nlm.nih.gov/25098561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-014-1475-8

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

ResearchGate publication ID

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