Pilar Póo : rechercher sur Z-Library

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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

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Serrano, Mercedes, de Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Velázquez, Ramón, Poo, M. Pilar, Fons, Carmen, O’Callaghan, M. Mar, García-Cazorla, Angels, Boix, Cri

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 800 KB

english, 2015

3

Measuring intellectual ability in cerebral palsy: The comparison of three tests and their neuroimaging correlates

Ballester-Plané, Júlia, Laporta-Hoyos, Olga, Macaya, Alfons, Póo, Pilar, Meléndez-Plumed, Mar, Vázquez, Élida, Delgado, Ignacio, Zubiaurre-Elorza, Leire, Narberhaus, Ana, Toro-Tamargo, Esther, Russi,

Journal:

Research in Developmental Disabilities

Année:

2016

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2016

4

Cognitive functioning in dyskinetic cerebral palsy: its relation to motor function, communication and epilepsy

Ballester-Plané, Júlia, Laporta-Hoyos, Olga, Macaya, Alfons, Póo, Pilar, Meléndez-Plumed, Mar, Toro-Tamargo, Esther, Gimeno, Francisca, Narberhaus, Ana, Segarra, Dolors, Pueyo, Roser

Journal:

European Journal of Paediatric Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 703 KB

english, 2017

5

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

Darling, Alejandra, Aguilera-Albesa, Sergio, Tello, Cristina Aisha, Serrano, Mercedes, Tomás, Miguel, Camino-León, Rafael, Fernández-Ramos, Joaquín, Jiménez-Escrig, Adriano, Poó, Pilar, O'Callaghan, M

Journal:

Parkinsonism & Related Disorders

Année:

2018

Fichier:

PDF, 1.17 MB

2018

6

Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation

Judith Armstrong, Pilar Póo, Mercè Pineda, Elena Aibar, Esther Geán, Vicenç Català, Eugènia Monrós

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 1.35 MB

english, 2001

7

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Angela Arias, Marc Corbella, Carmen Fons, Angela Sempere, Judit García-Villoria, Aida Ormazabal, Pilar Poo, Mercé Pineda, María Antonia Vilaseca, Jaume Campistol, Paz Briones, Teresa Pàmpols, Gajja S.

Journal:

Clinical Biochemistry

Année:

2007

Langue:

english

Fichier:

PDF, 162 KB

english, 2007

8

Macrocephaly and dilated Virchow-Robin spaces in childhood

J. Artigas, Pilar Poo, Antoni Rovira, Ester Cardo

Journal:

Pediatric Radiology

Année:

1999

Langue:

english

Fichier:

PDF, 368 KB

english, 1999

9

Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM

Nobuhiko Okamoto, Rolando Del Maestro, Rebeca Valero, Eugenia Monros, Pilar Poo, Yonehiro Kanemura, Mami Yamasaki

Journal:

Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 131 KB

english, 2004

10

White matter alterations associated with chromosomal disorders

Angels García-Cazorla, Anna Sans, Miguel Baquero, María Dolores García-Bargo, Montse Arellano, Pilar Poo, Esther Gean, Jaume Campistol

Journal:

Developmental Medicine & Child Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2004

11

Epilepsy spectrum in cerebral creatine transporter deficiency

Carmen Fons, Ángela Sempere, Francesc X. Sanmartí, Ángela Arias, Pilar Póo, Mercedes Pineda, Antonia Ribes, Begoña Merinero, Maria A. Vilaseca, Gajja S. Salomons, Rafael Artuch, Jaume Campistol

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 118 KB

english, 2009

12

Impact of histological chorioamnionitis, funisitis and clinical chorioamnionitis on neurodevelopmental outcome of preterm infants

Nuria Rovira, Ana Alarcon, Marti Iriondo, Margarita Ibañez, Pilar Poo, Victoria Cusi, Thais Agut, Africa Pertierra, Xavier Krauel

Journal:

Early Human Development

Année:

2011

Langue:

english

Fichier:

PDF, 163 KB

english, 2011

13

Syndrome of fixed dystonia in adolescents – Short term outcome in 4 cases

Anirban Majumdar, Jesús López-Casas, Pilar Poo, Jaume Colomer, Marta Galvan, Lokesh Lingappa, Clare Short, Philip E. Jardine, Emilio Fernández-Alvarez

Journal:

European Journal of Paediatric Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 301 KB

english, 2009

14

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia

Martorell, Loreto, Tondo, Mireia, Garcia-Fructuoso, Ferrán, Naudo, Montserrat, Alegre, Cayetano, Gamez, Josep, Genovés, Jordi, Poo, Pilar

Journal:

Clinical Rheumatology

Année:

2012

Langue:

english

Fichier:

PDF, 147 KB

english, 2012

15

Seizures Versus Dystonia in Encephalopathic Crisis of Glutaric Aciduria Type I

Alfredo Cerisola, Jaume Campistol, Belén Pérez-Dueñas, Pilar Poo, Mercé Pineda, Angels García-Cazorla, Francesc X. Sanmartí, Antonia Ribes, María Antonia Vilaseca

Journal:

Pediatric Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 90 KB

english, 2009

16

Predisposition to epilepsy in fragile X syndrome: Does the Val66Met polymorphism in the BDNF gene play a role?

Mireia Tondo, Pilar Poo, Montserrat Naudó, Teresa Ferrando, Jordi Genovés, Marta Molero, Loreto Martorell

Journal:

Epilepsy & Behavior

Année:

2011

Langue:

english

Fichier:

PDF, 137 KB

english, 2011

17

Tocopherol in inborn errors of intermediary metabolism

Dolores Moyano, M.Antònia Vilaseca, Mercé Pineda, Jaume Campistol, Anna Vernet, Pilar Póo, Rafael Artuch, Cristina Sierra

Journal:

Clinica Chimica Acta

Année:

1997

Langue:

english

Fichier:

PDF, 452 KB

english, 1997

18

Rett syndrome in Spain: mutation analysis and clinical correlations

Eugènia Monrós, Judith Armstrong, Elena Aibar, Pilar Poo, Ignacio Canós, Mercè Pineda

Journal:

Brain and Development

Année:

2001

Langue:

english

Fichier:

PDF, 95 KB

english, 2001

19

Influence of a patient education course on hospital and outpatient interventions in patients with liver cirrhosis

David Kershenobich Stalni, Pilar Milke Garcia, Octavio Gomez Escudero, Segundo Moran Villota, Juan Fernando Gallegos Or, Jorge Luis Poo Ramirez

Journal:

Journal of Hepatology

Année:

2002

Langue:

english

Fichier:

PDF, 114 KB

english, 2002

20

Transient idiopathic dystonia during infancy

Fernández-Alvarez, Emilio, Schteinschnaider, Angeles, Campistol, Jaime, Lopez-Casas, Jesús, Poo, Pilar

Journal:

Pediatric Neurology

Année:

1992

Langue:

english

Fichier:

PDF, 129 KB

english, 1992

21

Clinical and genomic characterization of two patients with a duplication of 9q34

Natera-de Benito, Daniel, Fons, Carmen, Ulate-Campos, Adriana, Martorell, Loreto, Póo, Pilar

Journal:

Clinical Dysmorphology

Année:

2015

Langue:

english

Fichier:

PDF, 405 KB

english, 2015

22

Phylloid Hypomelanosis and Mosaic Partial Trisomy 13

González-Enseñat, M. Antonia, Vicente, Asunción, Poo, Pilar, Catalá, Vicenç, Mar Pérez-Iribarne, M., Fuster, Carme, Geán, Esther, Happle, Rudolf

Journal:

Archives of Dermatology

Année:

2009

Langue:

english

Fichier:

PDF, 97 KB

english, 2009

23

Botulinum toxin in the treament of spasticity in HIV-infected children affected with progressive encephalopathy

Noguera, Antoni, Perez-Duenas, Belen, Fortuny, Claudia, Lopez-Casas, Jesus, Poo-Arguelles, Pilar

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 312 KB

english, 2004

24

White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function

Laporta-Hoyos, Olga, Pannek, Kerstin, Ballester-Plané, Júlia, Reid, Lee B., Vázquez, Élida, Delgado, Ignacio, Zubiaurre-Elorza, Leire, Macaya, Alfons, Póo, Pilar, Meléndez-Plumed, Mar, Junqué, Carme,

Journal:

NeuroImage: Clinical

Année:

2017

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2017

25

Whole-brain structural connectivity in dyskinetic cerebral palsy and its association with motor and cognitive function

Ballester-Plané, Júlia, Schmidt, Ruben, Laporta-Hoyos, Olga, Junqué, Carme, Vázquez, Élida, Delgado, Ignacio, Zubiaurre-Elorza, Leire, Macaya, Alfons, Póo, Pilar, Toro, Esther, de Reus, Marcel A., van

Journal:

Human Brain Mapping

Année:

2017

Langue:

english

Fichier:

PDF, 576 KB

english, 2017

26

A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease

Prior, Carmen, Muñoz-Calero, Maria, Gómez-Gonzalez, Clara, Martinez-Montero, Paloma, Barrio, Luis, Poo, Pilar, Martorell, Loreto, Molano, Jesus

Journal:

Journal of the Neurological Sciences

Année:

2018

Langue:

english

Fichier:

PDF, 2.04 MB

english, 2018