(Q48823252)

English

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.

scientific article published in February 2012

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

6

object named as

Gert C Scheper

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

Carola G M van Berkel

3

object named as

Carola G M van Berkel

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

4

object named as

Emiel Polder

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

author name string

Laura van Berge

1

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

Stephanie Dooves

2

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

Marjo S van der Knaap

5

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

language of work or name

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publication date

1 February 2012

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

number of pages

8

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Biochemical Journal

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

441

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Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

3

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

955-962

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate.

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

Characteristics of a human cell line transformed by DNA from human adenovirus type 5

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

Characterization of a cell line derived from a human oligodendroglioma

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

A human glial hybrid cell line differentially expressing genes subserving oligodendrocyte and astrocyte phenotype

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

1 reference

https://api.crossref.org/works/10.1042%2FBJ20110795

21 January 2018

Identifiers

10.1042/BJ20110795

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22023289

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