List of works - Manuel Castro-Gago

16p11.2 microdeletion associated to early onset benign childhood seizures

scientific article published in January 2013

A Xq21.31 duplication without features of Prader-Willi syndrome

scientific article published on 01 February 2013

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novoSOX5deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

scientific article published on 02 April 2015

Abnormal myelination in Angelman syndrome

scientific article published on 31 August 2009

Articular manifestations in patients with Lyme disease.

scientific article published on 16 December 2015

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

scientific article

Cardiac troponin I for accurate evaluation of cardiac status in myopathic patients

scientific article

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Chromosomopathy manifesting as mitochondrial disease

scientific article published on 01 May 2011

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

scientific article published on 21 April 2015

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

scientific article

Copy number variation analysis of patients with intellectual disability from North-West Spain.

scientific article published on 12 May 2017

Correspondence on "Lipid profile, apolipoproteins A and B in children with epilepsy''.

scientific article

Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].

scientific article

Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks

scientific article

Dravet syndrome and mitochondrial dysfunction

scientific article published on 01 October 2011

Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome

scientific article published on 01 November 2006

Epidemiology of Lyme disease in a healthcare area in north-west Spain

scholarly article published in Gaceta Sanitaria

Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain

scientific article published in March 2006

Epidemiología de la enfermedad de Lyme en un área sanitaria del noroeste de España

scientific article published in May 2015

Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndrome

scientific article

Evolution of serum lipids and lipoprotein (a) levels in epileptic children treated with carbamazepine, valproic acid, and phenobarbital

scientific article published on 01 January 2006

Evolution of subclinical hypothyroidism in children treated with antiepileptic drugs.

scientific article published in December 2007

Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes

scientific article

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

scientific article published on 20 June 2014

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis

scientific article

Hashimoto encephalopathy in a preschool girl

scientific article published on February 2010

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration: a late onset variant of PCH-1?

scientific article

Interstitial microdeletions including the chromosome band 4q13.2 and theUBA6gene as possible causes of intellectual disability and behavior disorder

article

Intrathecal baclofen for progressive neurological disease in children

scientific article published on 20 August 2012

Juvenile Alpers disease

scientific article

Juvenile xanthogranuloma of the cauda equina

scientific article published on 01 February 2009

Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome?

scientific article published on 27 May 2008

Microdeletion 2q23.1 and syndromic findings

scientific article published in November 2013

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

scientific article published on 23 February 2015

Muscle myostatin expression in children with muscle diseases

scientific article published on 01 January 2007

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

scientific article

Myostatin expression in muscular dystrophies and mitochondrial encephalomyopathies.

scientific article

Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion

scientific article published on 01 January 2005

Neuron-specific enolase, nucleotides, nucleosides, purine bases, oxypurines and uric acid concentrations in cerebrospinal fluid of children with meningitis

scientific article (publication date: March 2003)

Oculocutaneous albinism accompanied by minor morphologic stigmata

scientific article published on 13 June 2008

Ohtahara syndrome and respiratory chain complex I deficiency

scientific article published on 17 June 2010

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

scientific article published on 22 February 2011

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome.

scientific article

Respiratory chain deficiency in Aicardi-Goutières syndrome

scientific article published on 01 August 2006

Serum biotinidase activity in children treated with valproic acid and carbamazepine.

scientific article

Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

scientific article

The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity

scientific article published on 03 June 2011

Treatment of mitochondrial encephalomyopathies with a xanthine oxidase inhibitor

scientific article published on 01 November 2006

[Dravet syndrome and mitochondrial disease, are they comorbid pathologies?]

article published in 2015

[Selective mutism and mitochondrial disease: a description of a new association]

scientific article published on 01 October 2010

List of works by Manuel Castro-Gago

16p11.2 microdeletion associated to early onset benign childhood seizures

A Xq21.31 duplication without features of Prader-Willi syndrome

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novoSOX5deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

Abnormal myelination in Angelman syndrome

Articular manifestations in patients with Lyme disease.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Cardiac troponin I for accurate evaluation of cardiac status in myopathic patients

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Chromosomopathy manifesting as mitochondrial disease

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

Copy number variation analysis of patients with intellectual disability from North-West Spain.

Correspondence on "Lipid profile, apolipoproteins A and B in children with epilepsy''.

Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].

Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks

Dravet syndrome and mitochondrial dysfunction

Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome

Epidemiology of Lyme disease in a healthcare area in north-west Spain

Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain

Epidemiología de la enfermedad de Lyme en un área sanitaria del noroeste de España

Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndrome

Evolution of serum lipids and lipoprotein (a) levels in epileptic children treated with carbamazepine, valproic acid, and phenobarbital

Evolution of subclinical hypothyroidism in children treated with antiepileptic drugs.

Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis

Hashimoto encephalopathy in a preschool girl

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration: a late onset variant of PCH-1?

Interstitial microdeletions including the chromosome band 4q13.2 and theUBA6gene as possible causes of intellectual disability and behavior disorder

Intrathecal baclofen for progressive neurological disease in children

Juvenile Alpers disease

Juvenile xanthogranuloma of the cauda equina

Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome?

Microdeletion 2q23.1 and syndromic findings

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Muscle myostatin expression in children with muscle diseases

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Myostatin expression in muscular dystrophies and mitochondrial encephalomyopathies.

Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion

Neuron-specific enolase, nucleotides, nucleosides, purine bases, oxypurines and uric acid concentrations in cerebrospinal fluid of children with meningitis

Oculocutaneous albinism accompanied by minor morphologic stigmata

Ohtahara syndrome and respiratory chain complex I deficiency

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome.

Respiratory chain deficiency in Aicardi-Goutières syndrome

Serum biotinidase activity in children treated with valproic acid and carbamazepine.

Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity

Treatment of mitochondrial encephalomyopathies with a xanthine oxidase inhibitor

[Dravet syndrome and mitochondrial disease, are they comorbid pathologies?]

[Selective mutism and mitochondrial disease: a description of a new association]