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1

Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT

Ángela Sempere, Carmen Fons, Ángela Arias, Pilar Rodríguez-Pombo, Begoña Merinero, Patricia Alcaide, Antoni Capdevila, Antonia Ribes, Rosario Duque, Jesús Eirís, Pilar Poo, Emilio Fernández-Álvarez, J

Journal:

Medicina Clínica

Année:

2009

Fichier:

PDF, 178 KB

2009

2

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

Fernández-Marmiesse, Ana, Morey, Marcos, Pineda, Merce, Eiris, Jesús, Couce, Maria, Castro-Gago, Manuel, Fraga, Jose, Lacerda, Lucia, Gouveia, Sofia, Pérez-Poyato, Maria, Armstrong, Judith, Castiñeira

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 307 KB

english, 2014

3

Bilateral mucosal rotation flap for repair of lower lip defect

Eirís, Noemí, Suarez-Valladares, Maria Jesús, Cocunubo Blanco, Henry Alexander, Rodríguez-Prieto, Manuel Ángel

Journal:

Journal of the American Academy of Dermatology

Année:

2015

Langue:

english

Fichier:

PDF, 628 KB

english, 2015

4

Severe myoclonic epilepsy associated with mitochondrial cytopathy

Manuel Castro-Gago, Jesus Eirís, José Fernández-Bustillo, Dolores Escribano, Elena Pintos, Lidia Monasterio, José Peña

Journal:

Child's Nervous System

Année:

1995

Langue:

english

Fichier:

PDF, 974 KB

english, 1995

5

Autosomal recessive hydrocephalus with aqueductal stenosis

Manuel Castro-Gago, Adela Alonso, Jesús Eirís-Puñal

Journal:

Child's Nervous System

Année:

1996

Langue:

english

Fichier:

PDF, 645 KB

english, 1996

6

Letter to the Editor

Manuel Castro-Gago, Carmen Gómez-Lado, Jesús Eirís-Puñal

Journal:

Developmental Medicine & Child Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 43 KB

english, 2006

7

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome

Manuel Castro-Gago, Manuel Oscar Blanco-Barca, Carmen Gómez-Lado, Jesús Eirís-Puñal, Yolanda Campos-González, Joaquín Arenas-Barbero

Journal:

Brain and Development

Année:

2009

Langue:

english

Fichier:

PDF, 132 KB

english, 2009

8

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

Manuel Castro-Gago, Carmen Gómez-Lado, Jesús Eirís-Puñal

Journal:

Brain and Development

Année:

2009

Langue:

english

Fichier:

PDF, 56 KB

english, 2009

9

Ohtahara syndrome and respiratory chain complex I deficiency

Manuel Castro-Gago, Jesús Eirís-Puñal

Journal:

Brain and Development

Année:

2011

Langue:

english

Fichier:

PDF, 51 KB

english, 2011

10

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

Manuel Castro-Gago, Carmen Gómez-Lado, Jesús Eirís-Puñal

Journal:

European Journal of Paediatric Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 70 KB

english, 2009

11

Abnormal myelination in Angelman syndrome

Manuel Castro-Gago, Carmen Gómez-Lado, Jesús Eirís-Puñal, Vanessa María Rodríguez-Mugico

Journal:

European Journal of Paediatric Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 88 KB

english, 2010

12

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

Carmen Gómez-Lado, Jesús Eirís, José Manuel Martínez-Yriarte, Oscar Blanco, Manuel Castro-Gago

Journal:

Acta Paediatrica

Année:

2006

Langue:

english

Fichier:

PDF, 175 KB

english, 2006

13

Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain

Manuel Castro-Gago, Manuel O. Blanco-Barca, Yolanda Campos-González, Joaquín Arenas-Barbero, Elena Pintos-Martínez, Jesús Eirís-Puñal

Journal:

Pediatric Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 99 KB

english, 2006

14

Myostatin Expression in Muscular Dystrophies and Mitochondrial Encephalomyopathies

Manuel Castro-Gago, Manuel O. Blanco-Barca, Jesús Eiris-Puñal, Isabel Carneiro, Victor M. Arce, Jesús Devesa

Journal:

Pediatric Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 102 KB

english, 2006

15

Treatment of Mitochondrial Encephalomyopathies With a Xanthine Oxidase Inhibitor

Manuel Castro-Gago, Manuel Oscar Blanco-Barca, María Inés Novo-Rodríguez, Carmen Gómez-Lado, Félix Camiña, Jesús Eirís-Puñal, Santiago Rodríguez-Segade

Journal:

Pediatric Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 84 KB

english, 2006

16

Evolution of Subclinical Hypothyroidism in Children Treated With Antiepileptic Drugs

Manuel Castro-Gago, María Inés Novo-Rodríguez, Carmen Gómez-Lado, Javier Rodríguez-García, Santiago Rodríguez-Segade, Jesús Eirís-Puñal

Journal:

Pediatric Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 85 KB

english, 2007

17

Hashimoto Encephalopathy in a Preschool Girl

Manuel Castro-Gago, Carmen Gómez-Lado, Mercedes Maneiro-Freire, Jesús Eirís-Puñal, Manuel Bravo-Mata

Journal:

Pediatric Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 753 KB

english, 2010

18

Cerebral syncope in children

Antonio Rodríguez-Núñez, Santiago Fernández-Cebrián, Alejandro Pérez-Muñuzuri, Federico Martinón-Torres, Jesús Eirís-Puñal, JoséMaría Martinón-Sánchez

Journal:

The Journal of Pediatrics

Année:

2000

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2000

19

Immune globulin G for treatment of opsoclonus-polymyoclonus syndrome

Jesús Eirís, Mercedes del Río, Manuel Castro-Gago

Journal:

The Journal of Pediatrics

Année:

1996

Langue:

english

Fichier:

PDF, 120 KB

english, 1996

20

Congenital ocular motor apraxia associated with myopathy, external hydrocephalus and NADH dehydrogenase deficiency

Jesús Eirı́s Puñal, Eladio Rodrı́guez, Elena Pintos, Yolanda Campos, Manuel Castro-Gago

Journal:

Brain and Development

Année:

1998

Langue:

english

Fichier:

PDF, 406 KB

english, 1998

21

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

Antonio Rodrı́guez-Núñez, Elena Cid, Jesús Eirı́s, Javier Rodrı́guez-Garcı́a, Félix Camiña, Santiago Rodrı́guez-Segade, Manuel Castro-Gago

Journal:

Brain and Development

Année:

1999

Langue:

english

Fichier:

PDF, 288 KB

english, 1999

22

The relation between hyperventilation and pediatric syncope

Federico Martinón-Torres, Antonio Rodrı́guez-Núñez, Santiago Fernández-Cebrián, Jesús Eirı́s-Puñal, Alejandro Perez-Muñuzuri, Jose Marı́a Martinón-Sánchez

Journal:

The Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 66 KB

english, 2001

23

Hemiplejía alternante de la infancia en la población española. Descripción clínica, evolución y respuesta al tratamiento

Carmen Fons, Jaume Campistol, Juan Carbona, Carmen Roche, Jesús Eiris, Juan José García Peñas

Journal:

Medicina Clínica

Année:

2008

Fichier:

PDF, 123 KB

2008

24

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

Ulate-Campos, Adriana, Fons, Carmen, Campistol, Jaume, Martorell, Loreto, Cancho-Candela, Ramón, Eiris, Jesús, López-Laso, Eduardo, Pineda, Mercedes, Sans, Anna, Velázquez, Ramón

Journal:

Medicina Clínica

Année:

2014

Fichier:

PDF, 271 KB

2014

25

Cefalea infantil

Alonso Curcó, Xènia, Eiris Puñal, Jesús

Journal:

Anales de Pediatría Continuada

Année:

2013

Fichier:

PDF, 1.04 MB

2013

26

Surgical treatment in spine Paget’s disease: a systematic review

Jorge-Mora, Alberto, Amhaz-Escanlar, Samer, Lois-Iglesias, Ana, Leborans-Eiris, Susana, Pino-Minguez, Jesús

Journal:

European Journal of Orthopaedic Surgery & Traumatology

Année:

2016

Langue:

english

Fichier:

PDF, 367 KB

english, 2016

27

Respiratory chain deficiency in Aicardi–Goutières syndrome

Castro-Gago, Manuel, Gómez-Lado, Carmen, Eirís-Puñal, Jesús

Journal:

Developmental Medicine & Child Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 42 KB

english, 2006

28

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

Quintela, Ines, Barros, Francisco, Castro-Gago, Manuel, Carracedo, Angel, Eiris, Jesus

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2015

29

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

Quintela, Ines, Barros, Francisco, Fernandez-Prieto, Montse, Martinez-Regueiro, Rocio, Castro-Gago, Manuel, Carracedo, Angel, Gomez-Lado, Carmen, Eiris, Jesus

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2015

30

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

Quintela, Ines, Barros, Francisco, Lago-Leston, Ramon, Castro-Gago, Manuel, Carracedo, Angel, Eiris, Jesus

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.44 MB

english, 2015

31

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain

Quintela, Ines, Fernandez-Prieto, Montse, Gomez-Guerrero, Lorena, Resches, Mariela, Eiris, Jesus, Barros, Francisco, Carracedo, Angel

Journal:

Clinical Case Reports

Année:

2015

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2015

32

Treatment of hidradenitis suppurativa with intralesional photodynamic therapy with 5-aminolevulinic acid and 630nm laser beam

Suárez Valladares, María Jesús, Eiris Salvado, Noemi, Rodríguez Prieto, Manuel Angel

Journal:

Journal of Dermatological Science

Année:

2017

Langue:

english

Fichier:

PDF, 589 KB

english, 2017

33

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

Quintela, Inés, Eirís, Jesús, Gómez-Lado, Carmen, Pérez-Gay, Laura, Dacruz, David, Cruz, Raquel, Castro-Gago, Manuel, Míguez, Luz, Carracedo, Ángel, Barros, Francisco

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 571 KB

english, 2017

34

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

Brea-Fernández, Alejandro, Dacruz, David, Eirís, Jesús, Barros, Francisco, Carracedo, Ángel

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 948 KB

english, 2018