J. Eirís

发表

Severe myoclonic epilepsy associated with mitochondrial cytopathy

M. Castro‐Gago, E. Pintos, J. Eirís, 1995, Child's Nervous System.

Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

Á. Carracedo, A. Salas, M. Castro‐Gago, 2011, PloS one.

Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation

M. Castro‐Gago, J. Arenas, M. Fuster, 2001, Journal of Inherited Metabolic Disease.

Effects of long‐term treatment with antiepileptic drugs on serum lipid levels in children with epilepsy

M. Castro‐Gago, J. Eirís, S. Lojo, 1995, Neurology.

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

Á. Carracedo, M. Castro‐Gago, I. Quintela, 2015, American journal of medical genetics. Part A.

Neuron-specific enolase levels in the cerebrospinal fluid of neurologically healthy children

M. Castro‐Gago, S. Rodriguez-Segade, A. Rodríguez-Núñez, 1999, Brain and Development.

The effects on lipid and apolipoprotein serum levels of long-term carbamazepine, valproic acid and phenobarbital therapy in children with epilepsy

M. Castro‐Gago, M. D. Río, J. Eirís, 2000, Epilepsy Research.

[Hypomelanosis of Ito: autism, segmental dilatation of colon and unusual neuroimaging findings].

M. Castro‐Gago, J. Eirís, A. Alvarez-Moreno, 1997, Revista de neurologia.

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

M. Castro‐Gago, J. Armstrong, M. Pineda, 2014, Orphanet Journal of Rare Diseases.

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

Á. Carracedo, R. Cruz, M. Castro‐Gago, 2017, Gene.

Key Clinical Message

Á. Carracedo, I. Quintela, M. Fernández-Prieto, 2022 .

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Lago, I. Mahillo, B. Gener, 2022, medRxiv.

A maternally inherited 16p13.11‐p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

Á. Carracedo, M. Castro‐Gago, I. Quintela, 2015, American journal of medical genetics. Part A.

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

Á. Carracedo, M. Castro‐Gago, I. Quintela, 2015, American journal of medical genetics. Part A.

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.

M. Marti, B. Pérez-Dueñas, M. I. Vanegas, 2020, Parkinsonism & related disorders.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

Health care and societal costs of the management of children and adolescents with attention-deficit/hyperactivity disorder in Spain: a descriptive analysis

J. Alda, J. Martínez-Raga, J. Ramos-Quiroga, 2018, BMC Psychiatry.

Novel truncating variants expand the phenotypic spectrum of KAT6B‐related disorders

Á. Carracedo, F. Barros, J. Eirís, 2019, American journal of medical genetics. Part A.

Cerebral Oxygenation in Children with Syncope During Head-Upright Tilt Test

A. Rodríguez-Núñez, M. Fuster, J. Martínón, 1997, Pediatric Cardiology.

Immune globulin G for treatment of opsoclonus-polymyoclonus syndrome.

M. Castro‐Gago, J. Eirís, M. del Río, 1996, The Journal of pediatrics.

Duane's syndrome and 22 marker chromosome: A possible cat‐eye syndrome

M. Castro‐Gago, J. Eirís, C. Gómez‐Lado, 2006, Acta paediatrica.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

R. Velazquez, J. Campistol, C. Fons, 2014, Medicina clínica (Ed. impresa).

[Familial agenesis of the corpus callosum: a new form].

M. Castro‐Gago, A. Rodríguez-Núñez, J. Eirís, 1993, Archives francaises de pediatrie.

Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes

R. Velazquez, J. Campistol, C. Fons, 2014 .

[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].

A. Ribes, M. Castro‐Gago, S. Rodriguez-Segade, 1998, Revista de neurologia.

Key Clinical Message

I. Quintela, M. Fernández-Prieto, Mina L. Xu, 2022 .

Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Lago, I. Mahillo, B. Gener, 2022, Journal of Medical Genetics.