SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
Sánchez-Ferrero, E, Coto, E, Beetz, C, Gámez, J, Corao, AI, Díaz, M, Esteban, J, del Castillo, E, Moris, G, Infante, J, Menéndez, M, Pascual-Pascual, SI, López de Munaín, A, Garcia-Barcina, MJ, Alvarez, V
Published in Clinical genetics (01.03.2013)
Published in Clinical genetics (01.03.2013)
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Journal Article
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
Oliveira, J, Santos, R, Soares-Silva, I, Jorge, P, Vieira, E, Oliveira, ME, Moreira, A, Coelho, T, Ferreira, JC, Fonseca, MJ, Barbosa, C, Prats, J, Aríztegui, ML, Martins, ML, Moreno, T, Heinimann, K, Barbot, C, Pascual-Pascual, SI, Cabral, A, Fineza, I, Santos, M, Bronze-da-Rocha, E
Published in Clinical genetics (01.12.2008)
Published in Clinical genetics (01.12.2008)
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Journal Article
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
Sancho, Paula, Bartesaghi, Luca, Miossec, Olivia, García-García, Francisco, Ramírez-Jiménez, Laura, Siddell, Anna, Åkesson, Elisabet, Hedlund, Eva, Laššuthová, Petra, Pascual-Pascual, Samuel I, Sevilla, Teresa, Kennerson, Marina, Lupo, Vincenzo, Chrast, Roman, Espinós, Carmen
Published in Human molecular genetics (15.05.2019)
Published in Human molecular genetics (15.05.2019)
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Journal Article
Equimolar nitrous oxide/oxygen versus placebo for procedural pain in children: a randomized trial
Reinoso-Barbero, Francisco, Pascual-Pascual, Samuel I, de Lucas, Raul, García, Santos, Billoët, Catherine, Dequenne, Violaine, Onody, Peter
Published in Pediatrics (Evanston) (01.06.2011)
Published in Pediatrics (Evanston) (01.06.2011)
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Journal Article
European consensus table 2006 on botulinum toxin for children with cerebral palsy
Heinen, Florian, Molenaers, Guy, Fairhurst, Charlie, Carr, Lucinda J., Desloovere, Kaat, Chaleat Valayer, Emmanuelle, Morel, Edith, Papavassiliou, Antigone S., Tedroff, Kristina, Ignacio Pascual-Pascual, S., Bernert, Günther, Berweck, Steffen, Di Rosa, Guiseppe, Kolanowski, Elisabeth, Krägeloh-Mann, Ingeborg
Published in European journal of paediatric neurology (01.09.2006)
Published in European journal of paediatric neurology (01.09.2006)
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Journal Article
Triple Therapy with Darbepoetin Alfa, Idebenone, and Riboflavin in Friedreich’s Ataxia: an Open-Label Trial
Arpa, Javier, Sanz-Gallego, Irene, Rodríguez-de-Rivera, Francisco J., Domínguez-Melcón, Francisco J., Prefasi, Daniel, Oliva-Navarro, Javier, Moreno-Yangüela, Mar, Pascual-Pascual, Samuel I.
Published in Cerebellum (London, England) (01.10.2013)
Published in Cerebellum (London, England) (01.10.2013)
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Journal Article
Cutaneous Hemangiomas and Vascular Abnormalities: Persistence of Embryonic Vascularization
Pascual-Castroviejo, I, Pascual-Pascual, S.I, Delgado, J
Published in American Journal of Neuroradiology (01.02.2007)
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Published in American Journal of Neuroradiology (01.02.2007)
Journal Article
Displasia cortical focal. Correlaciones clínico-radiológicas-patológicas
Pascual-Castroviejo, I., Hernández-Moneo, J.L., Gutiérrez-Molina, M.L., Viaño, J., Pascual-Pascual, S.I., Velazquez-Fragua, R., Morales, C., Quiñones, D.
Published in Neurología (Barcelona, Spain) (01.10.2012)
Published in Neurología (Barcelona, Spain) (01.10.2012)
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Journal Article
Calidad de vida de niños cardiópatas que han sufrido un ictus arterial isquémico
Vázquez López, María, Castro de Castro, Pedro, Gil Villanueva, Nuria, Alcaraz Romero, Andrés José, Pascual Pascual, Samuel Ignacio
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2018)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2018)
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Journal Article
Association of cutaneous red-to-purple hemangiomas with leptomeningeal hemangiomas. a clinical study of two patients
Pascual-Castroviejo, I, Pascual-Pascual, S I, Velazquez-Fragua, R, García-Guereta, L, López-Gutiérrez, J-C, Olivares, P, Tovar, J
Published in Neuropediatrics (01.02.2010)
Published in Neuropediatrics (01.02.2010)
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Journal Article
CUTANEOUS HEMANGIOMAS AND PERSISTENCE OF EMBRYONIC VASCULARIZATION
Pascual-Castroviejo, I, Pascual-Pascual, SI, Velazquez-Fragua, R
Published in Neuropediatrics (18.05.2006)
Published in Neuropediatrics (18.05.2006)
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Conference Proceeding
NEUROFIBROMATOSIS TYPE 1 (NF1) AND NEUROFIBROMAS OF THE EXTERNAL GENITALIA: PRESENTATION IN 3 PATIENTS
Pascual-Pascual, SI, Jaureguiza, E, Velazquez-Fragua, R, Lopez-Pereira, P
Published in Neuropediatrics (18.05.2006)
Published in Neuropediatrics (18.05.2006)
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Conference Proceeding
NEUROFIBROMATOSIS TYPE 1 (NF1) AND SPINAL NEUROFIBROMAS. PRESENTATION IN 26 PATIENTS
Pascual-Castroviejo, I, Pascual-Pascual, SI, Velazquez-Fragua, R, Viaño, J, Martinez, V
Published in Neuropediatrics (18.05.2006)
Published in Neuropediatrics (18.05.2006)
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Conference Proceeding
Oculocerebrocutaneous (Delleman) syndrome: report of two cases
Pascual-Castroviejo, I, Pascual-Pascual, S I, Velázquez-Fragua, R, Lapunzina, P
Published in Neuropediatrics (01.02.2005)
Published in Neuropediatrics (01.02.2005)
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Journal Article
Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome
Pascual-Castroviejo, I, Viano, J, Moreno, F, Palencia, R, Martinez Fernandez, V, Pascual-Pascual, SI, Martinez-Bermejo, A, Garcia-Penas, JJ, Roche, MC
Published in American journal of neuroradiology : AJNR (01.03.1996)
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Published in American journal of neuroradiology : AJNR (01.03.1996)
Journal Article