Lista de obras -

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

artículo científico publicado en 2014

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

artículo científico publicado el 21 de marzo de 2012

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Dystonia in RNA Polymerase III-Related Leukodystrophy

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

artículo científico publicado en 2015

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

TUBB4A de novo mutations cause isolated hypomyelination

artículo científico publicado en 2014

Lista de obras de

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