Publications by authors named "Pilar Poo"

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PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Alejandra Darling, Sergio Aguilera-Albesa, Cristina Aisha Tello, Mercedes Serrano, Miguel Tomás

Parkinsonism Relat Disord· April 2019

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A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.
Carmen Prior, Maria Muñoz-Calero, Clara Gómez-Gonzalez, Paloma Martinez-Montero, Luis Barrio, Pilar Poo

J Neurol Sci· February 2019

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White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function.
Olga Laporta-Hoyos, Kerstin Pannek, Júlia Ballester-Plané, Lee B Reid, Élida Vázquez

Neuroimage Clin· April 2018

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Cognitive functioning in dyskinetic cerebral palsy: Its relation to motor function, communication and epilepsy.
Júlia Ballester-Plané, Olga Laporta-Hoyos, Alfons Macaya, Pilar Póo, Mar Meléndez-Plumed

Eur J Paediatr Neurol· January 2018

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Whole-brain structural connectivity in dyskinetic cerebral palsy and its association with motor and cognitive function.
Júlia Ballester-Plané, Ruben Schmidt, Olga Laporta-Hoyos, Carme Junqué, Élida Vázquez

Hum Brain Mapp· September 2017

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Measuring intellectual ability in cerebral palsy: The comparison of three tests and their neuroimaging correlates.
Júlia Ballester-Plané, Olga Laporta-Hoyos, Alfons Macaya, Pilar Póo, Mar Meléndez-Plumed

Res Dev Disabil· September 2016

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe, M Pilar Poo

Orphanet J Rare Dis· October 2015

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[Drooling therapy in children with neurological disorders].
M Andrea Táboas-Pereira, Cecilia Paredes-Mercado, Xènia Alonso-Curcó, Joaquim Badosa-Pagès, Jordi Muchart

Rev Neurol· July 2015

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Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature.
Daniel Natera-de Benito, Carmen Fons, Adriana Ulate-Campos, Loreto Martorell, Pilar Póo

Clin Dysmorphol· January 2015

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Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Marta Romani, Francesca Mancini, Alessia Micalizzi, Andrea Poretti, Elide Miccinilli, Pilar Poo

Hum Genet· January 2015

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[Diploid/triploid mosaicism: a variable but characteristic phenotype].
Daniel Natera-De Benito, Pilar Poo, Esther Gean, Asunción Vicente-Villa, Angels García-Cazorla

Rev Neurol· August 2014

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Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy, Pilar Poo

Hum Mutat· May 2013

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Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.
Loreto Martorell, Mireia Tondo, Ferrán Garcia-Fructuoso, Montserrat Naudo, Cayetano Alegre, Pilar Poo

Clin Rheumatol· November 2012

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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

Epilepsy Behav· November 2011

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Impact of histological chorioamnionitis, funisitis and clinical chorioamnionitis on neurodevelopmental outcome of preterm infants.
Nuria Rovira, Ana Alarcon, Marti Iriondo, Margarita Ibañez, Pilar Poo

Early Hum Dev· April 2011

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[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].
Angela Sempere, Carmen Fons, Angela Arias, Pilar Rodríguez-Pombo, Begoña Merinero, Pilar Poo

Med Clin (Barc)· November 2009

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Syndrome of fixed dystonia in adolescents--short term outcome in 4 cases.
Anirban Majumdar, Jesús López-Casas, Pilar Poo, Jaume Colomer, Marta Galvan

Eur J Paediatr Neurol· September 2009

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Epilepsy spectrum in cerebral creatine transporter deficiency.
Carmen Fons, Angela Sempere, Francesc X Sanmartí, Angela Arias, Pilar Póo

Epilepsia· September 2009

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Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.
Alfredo Cerisola, Jaume Campistol, Belén Pérez-Dueñas, Pilar Poo, Mercé Pineda

Pediatr Neurol· June 2009

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Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity.
M Antonia González-Enseñat, Asunción Vicente, Pilar Poo, Vicenç Catalá, M Mar Pérez-Iribarne

Arch Dermatol· May 2009

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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, Pilar Poo

Clin Biochem· November 2007

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Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.
Nobuhiko Okamoto, Rolando Del Maestro, Rebeca Valero, Eugenia Monros, Pilar Poo

J Hum Genet· July 2004

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White matter alterations associated with chromosomal disorders.
Angels García-Cazorla, Anna Sans, Miguel Baquero, María Dolores García-Bargo, Montse Arellano, Pilar Poo

Dev Med Child Neurol· March 2004

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News and comment.
Judith Armstrong, Pilar Póo, Mercè Pineda, Elena Aibar, Esther Geán

Ann Neurol· November 2001

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