(Q53778416)

19 May 2018

title

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. (English)

1 reference

19 May 2018

1 reference

1

Ronen Spiegel

1 reference

19 May 2018

author name string

Avraham Shaag

series ordinal

2

1 reference

19 May 2018

Stavit Shalev

series ordinal

3

1 reference

19 May 2018

Orly Elpeleg

series ordinal

4

1 reference

19 May 2018

publication date

28 April 2016

1 reference

19 May 2018

published in

Neurogenetics

1 reference

19 May 2018

volume

17

1 reference

19 May 2018

issue

3

1 reference

19 May 2018

page(s)

187-190

1 reference

19 May 2018

https://scigraph.springernature.com/pub.10.1007/s10048-016-0483-3

exact match

0 references

cites work

Leigh syndrome: One disorder, more than 75 monogenic causes

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Cloning and characterization of a novel apolipoprotein A-I binding protein, AI-BP, secreted by cells of the kidney proximal tubules in response to HDL or ApoA-I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Inhibition of NADP-dependent dehydrogenases by modified products of NADPH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Occurrence and subcellular distribution of the NADPHX repair system in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

A comprehensive strategy enabling high-resolution functional analysis of the yeast genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Genetic evidence for the adhesion protein IgSF9/Dasm1 to regulate inhibitory synapse development independent of its intracellular domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0483-3

Enzymatic conversion of a reduced diphosphopyridine nucleotide derivative to reduced diphosphopyridine nucleotide

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27122014

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The action of glyceraldehyde-3-phosphate dehydrogenase on reduced diphosphopyridine nucleotide

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27122014

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-016-0483-3

1 reference

19 May 2018

PubMed ID

27122014

1 reference

19 May 2018