KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature. (Q52609441)

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scientific article published on 4 April 2018

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English	KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.	scientific article published on 4 April 2018

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scholarly article

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22 March 2020

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24 November 2020

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature (English)

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22 March 2020

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leukoencephalopathy

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24 November 2020

1

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22 March 2020

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22 March 2020

Eleonora Lamantea

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22 March 2020

Barbara Garavaglia

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22 March 2020

Anna Pichiecchio

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22 March 2020

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Davide Tonduti

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22 March 2020

Rita Barone

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22 March 2020

Imen Dorboz

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Odile Boespflug-Tanguy

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22 March 2020

Gabriella Nebbia

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22 March 2020

Marco Maggioni

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22 March 2020

Laura Farina

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22 March 2020

Luisa Chiapparini

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22 March 2020

Daniele Ghezzi

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22 March 2020

Isabella Moroni

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22 March 2020

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4 April 2018

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22 March 2020

24 November 2020

Orphanet Journal of Rare Diseases

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25 April 2019

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22 March 2020

24 November 2020

13

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22 March 2020

1

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22 March 2020

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22 March 2020

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on focus list of Wikimedia project

0 references

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

1 reference

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22 May 2018

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Novel (ovario) leukodystrophy related to AARS2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

1 reference

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22 May 2018

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

1 reference

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22 May 2018

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Targeted exome sequencing of suspected mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Aminoacyl-tRNA synthetases in medicine and disease

1 reference

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22 May 2018

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

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

1 reference

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22 May 2018

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

1 reference

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22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

1 reference

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22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

22 May 2018

The human lysyl-tRNA synthetase gene encodes both the cytoplasmic and mitochondrial enzymes by means of an unusual alternative splicing of the primary transcript

1 reference

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22 May 2018

Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.

1 reference

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13 August 2018

Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate

1 reference

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13 August 2018

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

13 August 2018

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5883414

13 August 2018

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings

1 reference

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Clinical and molecular findings in children with complex I deficiency

1 reference

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A novel neurological disorder with progressive CNS calcification, deafness, renal tubular acidosis, and microcytic anemia.

1 reference

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Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

1 reference

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30 November 2018

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10.1186/S13023-018-0788-4

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22 March 2020

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22 March 2020

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22 March 2020

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