Search filters

List of works by Oscar Blanco-Barca

Association between autistic spectrum and mitochondrial pathology

scientific article published in July 2008

Chromosomopathy manifesting as mitochondrial disease

scientific article published on 01 May 2011

Duplication of the PLP gene and the classical form of Pelizaeus-Merzbacher disease

scientific article published in September 2003

Epilepsy and respiratory chain defects in children

scientific article published on 01 June 2009

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

Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome

scientific article published in February 2004

Mitochondrial encephalomyopathies and West's syndrome: a frequently underdiagnosed association

scientific article published in October 2004

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

Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations

scientific article published in October 2003

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

scientific article

Treatment of mitochondrial encephalomyopathies with a xanthine oxidase inhibitor

scientific article published on 01 November 2006

[Aicardi-Goutières syndrome: report of two new cases]

scientific article published on 01 February 2005

[Benign congenital myopathy associated with a partial deficiency of complexes I and III of the mitochondrial respiratory chain]]

scientific article published on 01 November 2000

[Benign idiopathic external hydrocephalus (benign subdural collection) in 39 children: its natural history and relation to familial macrocephaly]

scientific article published on 01 May 2005

[Cost-effectiveness of buccal midazolam in the treatment of prolonged convulsive seizures in the outpatient setting in Spain]

scientific article published in June 2014

[Disease due to lysosomal deposits with differential peculiarities: type II GM1 gangliosidosis]

scientific article published in April 2014

[Hepatomioneuropathy secondary to mitochondrial DNA depletion]

scientific article published on 01 April 2007

[Mixed hypotonia, neurological regression and atrophy of the cerebellum: manifestations that suggest infantile neuroaxonal dystrophy]

scientific article published on 01 July 2003

[Multiple symmetric lipomatosis associated to polyneuropathology, atrophy of the cerebellum and mitochondrial cytopathy]

scientific article published on 01 June 2003

[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene]

scientific article published on 01 September 2006

[Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype]

scientific article published on 01 June 2004

[Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene]

article by Oscar Blanco-Barca et al published 1 March 2016 in Revista de neurología