(Q24339600)

10

0 references

Joy Irobi

9

0 references

Leonardo Almeida-Souza

4

0 references

Vicky De Winter

11

0 references

Tinne Ooms

12

object named as

Tinne Ooms

0 references

Bob Asselbergh

3

object named as

Bob Asselbergh

0 references

author name string

Kristien Peeters

1

0 references

Ivan Litvinenko

2

0 references

Teodora Chamova

5

0 references

Thomas Geuens

6

0 references

Elke Ydens

7

0 references

Magdalena Zimoń

8

0 references

Ivailo Tournev

American Journal of Human Genetics

14

0 references

language of work or name

English

0 references

publication date

6 June 2013

0 references

published in

0 references

volume

92

0 references

issue

6

0 references

page(s)

955-64

0 references

cites work

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Bicaudal D induces selective dynein-mediated microtubule minus end-directed transport

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Bicaudal-D regulates COPI-independent Golgi-ER transport by recruiting the dynein-dynactin motor complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

The spinal muscular atrophy disease protein SMN is linked to the Golgi network

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Bicaudal D2, dynein, and kinesin-1 associate with nuclear pore complexes and regulate centrosome and nuclear positioning during mitotic entry

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

A method and server for predicting damaging missense mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Ramblings in the history of spinal muscular atrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

The CpG dinucleotide and human genetic disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

MutationTaster evaluates disease-causing potential of sequence alterations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Electron tomography reveals Rab6 is essential to the trafficking of trans-Golgi clathrin and COPI-coated vesicles and the maintenance of Golgi cisternal number

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Spinal muscular atrophy: a timely review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

The COPI vesicle complex binds and moves with survival motor neuron within axons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Molecular basis of base substitution hotspots in Escherichia coli

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Mutant dynactin in motor neuron disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

Dominant congenital benign spinal muscular atrophy

29 November 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675262

29 November 2018

12 December 2020

A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice

1 reference

12 December 2020

Non-5q spinal muscular atrophies: the alphanumeric soup thickens

1 reference

12 December 2020

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

12 December 2020

A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36

1 reference

12 December 2020

Production and titration of lentiviral vectors.

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2013.04.013

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2013.04.013

0 references

Fatcat ID

release_55ttr5xoeffo5jalzvk3gdu5pa

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/55ttr5xoeffo5jalzvk3gdu5pa

24 November 2022