DNM1L-related mitochondrial fission defect presenting as refractory epilepsy (Q37351458)

19 August 2017

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy (English)

1 reference

19 August 2017

mitochondrial fission

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Martin Holcik

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Mary-Ellen Harper

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jacek Majewski

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

15

Kym M Boycott

1 reference

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7 June 2020

author name string

Amanda M Smith

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Skye McBride

3

1 reference

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7 June 2020

Turaya Naas

4

1 reference

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7 June 2020

Ghadi Antoun

6

1 reference

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7 June 2020

Jean Michaud

8

1 reference

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7 June 2020

Erick Sell

9

1 reference

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7 June 2020

Pranesh Chakraborty

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Martine Tetreault

11

1 reference

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7 June 2020

Care4Rare Consortium

12

1 reference

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7 June 2020

Stephen Baird

14

1 reference

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7 June 2020

David A Dyment

16

1 reference

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7 June 2020

Alex MacKenzie

17

1 reference

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7 June 2020

Matthew A Lines

18

1 reference

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7 June 2020

publication date

25 November 2015

1 reference

European Journal of Human Genetics

19 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

24

1 reference

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7 June 2020

issue

7

1 reference

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7 June 2020

page(s)

1084-1088

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2015.243

7 June 2020

exact match

0 references

cites work

Synaptic dysfunction, memory deficits and hippocampal atrophy due to ablation of mitochondrial fission in adult forebrain neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

Loss of mitochondrial fission depletes axonal mitochondria in midbrain dopamine neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

Mitochondrial dynamics--mitochondrial fission and fusion in human diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

Mitochondrial dynamics in neurodegeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

A lethal de novo mutation in the middle domain of the dynamin-related GTPase Drp1 impairs higher order assembly and mitochondrial division

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

C. elegans dynamin-related protein DRP-1 controls severing of the mitochondrial outer membrane

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

A human dynamin-related protein controls the distribution of mitochondria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

Identification and functional characterization of a novel human protein highly related to the yeast dynamin-like GTPase Vps1p

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

A lethal defect of mitochondrial and peroxisomal fission

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070894

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

26 June 2018

1 reference

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Riociguat for pulmonary hypertension--a glass half full

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.243

21 January 2018

Identifiers

DOI

10.1038/EJHG.2015.243

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604000%20AND%20SRC:MED&resulttype=core&format=json