(Q38502090)

3 September 2017

0 references

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease (English)

1 reference

3 September 2017

1 reference

Alessia Nasca

10

0 references

Giulia Tozzi

Giulia Tozzi

6

0 references

Federica Invernizzi

Federica Invernizzi

9

0 references

Daria Diodato

Daria Diodato

1

0 references

Giorgio Tasca

Giorgio Tasca

2

0 references

Fiorella Piemonte

Fiorella Piemonte

13

0 references

Rosalba Carrozzo

Rosalba Carrozzo

15

0 references

Adele D'Amico

Adele D'Amico

4

0 references

Daniele Ghezzi

Daniele Ghezzi

12

0 references

Carlo Dionisi-Vici

Carlo Dionisi-Vici

14

0 references

Enrico Bertini

Enrico Bertini

16

0 references

Diego Martinelli

7

Diego Martinelli

1 reference

3 September 2017

5

Teresa Rizza

1 reference

3 September 2017

3

Daniela Verrigni

1 reference

3 September 2017

Margherita Verardo

8

1 reference

PMCID

4755377

3 September 2017

Emanuele Bellacchio

11

1 reference

3 September 2017

15 July 2015

1 reference

European Journal of Human Genetics

3 September 2017

1 reference

3 September 2017

24

1 reference

3 September 2017

3

1 reference

3 September 2017

463-466

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.141

3 September 2017

0 references

cites work

From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

Lysine succinylation is a frequently occurring modification in prokaryotes and eukaryotes and extensively overlaps with acetylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

AIF, reactive oxygen species, and neurodegeneration: a "complex" problem

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

Proteomic analysis of lysine acetylation sites in rat tissues reveals organ specificity and subcellular patterns

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

Redox-Linked Conformational Dynamics in Apoptosis-Inducing Factor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

The harlequin mouse mutation downregulates apoptosis-inducing factor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

Essential role of the mitochondrial apoptosis-inducing factor in programmed cell death

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

Clinical and molecular findings in children with complex I deficiency

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

Apoptosis-Inducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4755377

1 October 2018

Identifiers

DOI

10.1038/EJHG.2015.141

1 reference

3 September 2017

1 reference

3 September 2017

1 reference

PMCID

4755377