(Q33944787)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

Distal hereditary motor neuropathies

2 March 2020

main subject

spinal muscular atrophy

1 reference

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Francesca Moro

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Giacomo Brisca

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Guja Astrea

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Roberta Battini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Andrea Rossi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Filippo Maria Santorelli

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

7

Mariasavina Severino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Julie Yi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Sarah Weil

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Alessandro Romano

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Carlo Minetti

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Claudio Bruno

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Richard Vallee

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

publication date

3 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

298-302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

2 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

ATP-driven remodeling of the linker domain in the dynein motor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

A developmental and genetic classification for malformations of cortical development: update 2012

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

The 2.8 Å crystal structure of the dynein motor domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

The distal hereditary motor neuropathies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Neuronal migration defects in the Loa dynein mutant mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Crystal structure of the dynein motor domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

A cytoplasmic dynein tail mutation impairs motor processivity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Force-induced bidirectional stepping of cytoplasmic dynein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

The dynein family at a glance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

The dynein heavy chain: structure, mechanics and evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Overexpression of the dynamitin (p50) subunit of the dynactin complex disrupts dynein-dependent maintenance of membrane organelle distribution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109683

Mutations in dynein link motor neuron degeneration to defects in retrograde transport

5 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22491

Mutant dynactin in motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22491

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22491

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22491

Muscle MRI in TRPV4-related congenital distal SMA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22491

Multiple modes of cytoplasmic dynein regulation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24307404

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22491

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24307404%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

PubMed publication ID

24307404

1 reference