(Q41934675)

English

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

scientific article published on 16 November 2011

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scholarly article

1 reference

Europe PubMed Central

14 October 2017

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. (English)

1 reference

Europe PubMed Central

14 October 2017

pontocerebellar hypoplasia type 6

1 reference

based on heuristic

inferred from title

author name string

Emma Glamuzina

1

1 reference

Europe PubMed Central

14 October 2017

Ruth Brown

2

1 reference

Europe PubMed Central

14 October 2017

Kieran Hogarth

3

1 reference

Europe PubMed Central

14 October 2017

Dawn Saunders

4

1 reference

Europe PubMed Central

14 October 2017

Isabelle Russell-Eggitt

5

1 reference

Europe PubMed Central

14 October 2017

Matthew Pitt

6

1 reference

Europe PubMed Central

14 October 2017

Carlos de Sousa

7

1 reference

Europe PubMed Central

14 October 2017

Shamima Rahman

8

1 reference

Europe PubMed Central

14 October 2017

Garry Brown

9

1 reference

Europe PubMed Central

14 October 2017

Stephanie Grunewald

10

1 reference

Europe PubMed Central

14 October 2017

publication date

16 November 2011

1 reference

Europe PubMed Central

14 October 2017

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

14 October 2017

35

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Europe PubMed Central

14 October 2017

3

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Europe PubMed Central

14 October 2017

459-467

1 reference

Europe PubMed Central

14 October 2017

https://scigraph.springernature.com/pub.10.1007/s10545-011-9413-6

0 references

The role of aminoacyl-tRNA synthetases in genetic diseases

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

L-arginine recognition by yeast arginyl-tRNA synthetase

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

tRNA aminoacylation by arginyl-tRNA synthetase: induced conformations during substrates binding

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

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/10.1007%2FS10545-011-9413-6

21 January 2018

Mitochondrial diseases mimicking neurotransmitter defects.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

New functions of aminoacyl-tRNA synthetases beyond translation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Aminoacyl-tRNA synthetase complexes: molecular multitasking revealed

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

TSEN54 mutations cause pontocerebellar hypoplasia type 5

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

mRNA helicases: the tacticians of translational control

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

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/10.1007%2FS10545-011-9413-6

21 January 2018

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9413-6

21 January 2018

Roles of VRK1 as a new player in the control of biological processes required for cell division.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22086604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuroimaging manifestations and classification of congenital muscular dystrophies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22086604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S10545-011-9413-6

1 reference

Europe PubMed Central

14 October 2017

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1 reference

Europe PubMed Central

14 October 2017

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