List of works - Juan A Botía

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

scientific article published on 11 November 2017

ASL expression in ALDH1A1<sup>+</sup> neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

scientific article published on 21 August 2021

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

scientific article

An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein

scientific article published on 01 June 2021

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

CoExp: A Web Tool for the Exploitation of Co-expression Networks

scientific article published on 24 February 2021

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

scientific article

Gene co-expression networks shed light into diseases of brain iron accumulation

scientific article

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

scientific article published on 10 June 2020

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

article

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

scientific article published on 01 July 2019

Providing QoS through machine-learning-driven adaptive multimedia applications.

scientific article

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

scientific article published on 25 February 2020

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

scientific article published on 22 January 2018

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

scientific article

Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy

scientific article published on 01 June 2019

White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy

scientific article published on 18 September 2019

List of works by Juan A Botía

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

ASL expression in ALDH1A1<sup>+</sup> neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

CoExp: A Web Tool for the Exploitation of Co-expression Networks

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

Gene co-expression networks shed light into diseases of brain iron accumulation

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

Providing QoS through machine-learning-driven adaptive multimedia applications.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy

White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy