List of works - Kether Guerrero

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

scientific article published on 21 June 2014

A novel genome-based approach correlates TMPRSS3 overexpression in ovarian cancer with DNA hypomethylation ⬇️

scientific article published on March 21, 2012

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

scientific article published on 15 March 2018

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

scientific article published on 28 November 2018

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

scientific article published in Nature Communications

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

scientific article

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

scientific article published on 30 October 2019

Diffuse hypomyelination is not obligate for POLR3-related disorders

scientific article published on 30 March 2016

Dystonia in RNA Polymerase III-Related Leukodystrophy

scientific article published on 09 January 2019

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

scientific article published on 01 October 2020

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

scientific article published on 11 May 2020

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

scientific article published on 5 June 2015

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

scientific article published on 25 January 2013

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

scientific article

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

scientific article

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

scientific article published on 7 July 2015

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome

scientific article published on 24 October 2014

TUBB4A de novo mutations cause isolated hypomyelination

scientific article

List of works by Kether Guerrero

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

A novel genome-based approach correlates TMPRSS3 overexpression in ovarian cancer with DNA hypomethylation ⬇️

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Diffuse hypomyelination is not obligate for POLR3-related disorders

Dystonia in RNA Polymerase III-Related Leukodystrophy

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome

TUBB4A de novo mutations cause isolated hypomyelination