NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern (Q34336903)

1 August 2017

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern (English)

1 reference

magnetic resonance imaging

1 August 2017

0 references

Adeline Vanderver

10

0 references

Nicole I Wolf

Nicole I Wolf

3

0 references

Richard J Rodenburg

Richard J Rodenburg

2

0 references

Peter Heutink

13

Peter Heutink

1 reference

1 August 2017

Carola G M van Berkel

11

Carola G M van Berkel

1 reference

1 August 2017

12

Truus E M Abbink

1 reference

1 August 2017

Sietske H Kevelam

1

1 reference

1 August 2017

Patrick Ferreira

4

1 reference

1 August 2017

Roelineke J Lunsing

5

1 reference

1 August 2017

Leo G Nijtmans

6

1 reference

1 August 2017

Anne Mitchell

7

1 reference

1 August 2017

Hugo A Arroyo

8

1 reference

1 August 2017

Dietz Rating

9

1 reference

1 August 2017

Marjo S van der Knaap

14

1 reference

1 August 2017

language of work or name

English

0 references

publication date

3 April 2013

1 reference

1 August 2017

1 reference

1 August 2017

80

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1 August 2017

1577-1583

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1 August 2017

17

1 reference

Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

The molecular basis of human complex I deficiency.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Revisiting Mendelian disorders through exome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Biochemical diagnosis of mitochondrial disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Invited article: an MRI-based approach to the diagnosis of white matter disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Electrophoresis techniques to investigate defects in oxidative phosphorylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

A mitochondrial protein compendium elucidates complex I disease biology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

The iron-sulphur protein Ind1 is required for effective complex I assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

New pattern of brain MRI lesions in isolated complex I deficiency.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662327

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553477

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553477

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553477

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E31828F1914

1 reference

1 August 2017

1 reference

1 August 2017

1 reference