Pascual Pascual, Samuel Ignacio samuelignacio.pascual@uam.es
Publications
- Articles 209
- Books 1
- Book chapters 4
- Conferences 6
- Working papers 15
- Technical reports 0
- Research projects 0
- Supervised theses 5
- Patent or software license 0
A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)
- Wrobe, D
- Henseler, M
- Huettler, S
- Pascual, SIP
- Chabas, A
- Sandhoff, K;
Journal Of Inherited Metabolic Disease (p. 63-76) - 10/2/2000
10.1023/a:1005603014401 View at source
- ISSN 01418955
Complexity of the hereditary motor and sensory neuropathies
- Lupo, V.
- Pascual-Pascual, S.I.
- Sancho, P.
- Calpena, E.
- Gutiérrez-Molina, M.
- Mateo-Martínez, G.
- Espinós, C.
- Arriola-Pereda, G.
Journal Of Child Neurology (p. 1544-1548) - 22/10/2015
Editor: SAGE Publications Inc.
10.1177/0883073815571049 View at source
- ISSN 08830738
- ISSN/ISBN 1708-8283
Diplegia due to transcranial knife-blade injury in a 20-month-old child
- Pascual-Castroviejo I
- Pascual-Pascual S
- Viaño J
Journal Of Child Neurology (p. 340-341) - 1/4/2006
10.1177/08830738060210040501 View at source
- ISSN 08830738
Maaajor and minor arterial malformations in patients with cutaneous vascular abnormalities
- Pascual-Castroviejo I
- Pascual-Pascual S
- Viaño J
- López-Gutierrez J
- Palencia R
Journal Of Child Neurology (p. 587-598) - 1/5/2010
10.1177/0883073809340920 View at source
- ISSN 08830738
Cobb syndrome: Case report
- Pascual-Castroviejo I
- Frutos R
- Viaño J
- Pascual-Pascual S
- Gonzalez P
Journal Of Child Neurology (p. 847-849) - 1/11/2002
- ISSN 08830738
- iMarina
A new overgrowth syndrome is due to mutations in RNF125
- Tenorio, J.
- Valencia, M.
- Martínez-Glez, V.
- Romanelli, V.
- Arias, P.
- Guillén-Navarro, E.
- Mansilla, E.
- García-Santiago, F.
- Vallespín, E.
- Palomares, M.
- Mori, M.A.
- Santos-Simarro, F.
- García-Miñaur, S.
- Fernández, L.
- Mena, R.
- Benito-Sanz, S.
- Montaner, D.
- Heath, K.E.
- Campos-Barros, A.
- Dopazo, J.
- Nevado, J.
- Ruiz-Pérez, V.L.
- Lapunzina, P.
- Tenorio, J.
- Gordo, G.
- Mansilla, A.
- Martínez-Glez, V.
- Mori, M.A.
- Mena, R.
- Castrejón, N.
- Poletta, F.
- Guillén-Navarro, E.
- García-Santiago, F.
- González-Casado, I.
- Lapunzina, P.
- Fernández, L.
- Heath, K.E.
- del Pozo, A.
- Silla, J.C.
- Ibañez, K.
- López-Granados, E.
- Martín-Trujillo, A.
- Monk, D.
- Olivas, C.
- Armenta, D.
- Cavalcanti, D.
- Elorza, D.
- Castilla, E.
- Zamora, E.
- Zambrano, E.
- Steichen, E.
- Cruz, E.C.
- Gómez, E.G.
- Román, E.
- Goldschmidt, E.
- Marfil, E.
- Gean, E.
- Antolín, E.
- Jiménez, F.J.G.
- Ramos, F.
- Grondona, F.L.
- Córdoba, F.
- Vargas, F.R.
- Martinez, F.
- Vegada, J.M.G.
- Uzielli, G.
- Gacio, G.
- González Armengod, C.
- Mercado, G.
- Cassinelli, H.
- Orioli, I.
- Arroyo, I.
- López, I.D.
- Ramírez, I.O.
- Castroviejo, I.P.
- Pascual, I.P.
- Vázquez Rio, I.
- Bueno, I.
- Portero, I.E.
- Sánchez, I.L.
- Pozo, J.S.
- Campistol, J.
- Arcas, J.
- Fernández, J.
- Planells, J.G.
- Pisón, J.L.
- Barreiro, J.
- Núñez, J.D.V.
- Jiménez Liria, M.J.
- Toral, J.F.
- Ramírez, J.
- Rosell, J.
- Vilaplana, J.
- Cabral de Almeida, J.C.
- Labarta, J.I.
- Herranz, J.L.
- Fernández Luna, J.L.
- Fuster, J.L.
- Díaz, J.M.
- Gairi, J.M.
- Sagredo, J.M.G.
- Piñero, J.A.
- Gutiérrez, J.C.L.
- Fernández, J.M.
- López Siguero, J.P.
- Tovar, J.
- Armstrong, J.
- Lara, J.
- Arranz, L.
- Rodríguez, L.
- Soriano, L.
- Cardoso, L.
- Alba, L.D.
- Cimbalistiene, L.
- Martorell, L.
- Solana, L.G.G.
- Jurado, L.P.
- Ariztegui, M.A.L.
- Molina, M.A.
- García, M.C.
- Lozano, M.F.
- Merillas, M.J.A.
- Martínez-Frías, M.L.
- Fernández, M.L.M.
- Jadraque, M.R.
- Pérez, M.A.G.
- Pedreira, M.M.R.
- Ribate, M.P.
- López, M.T.G.
- Pumarega, M.T.M.
- Segovia, M.
- Lizama, M.
- Pombo, M.
- Martínez, M.
- Tabernero, M.
- Ramos, M.A.
- Ballesta, M.
- Belar, M.
- Lautre, M.J.
- Cruz, M.
- Guardia, M.N.M.
- Sarries, F.J.M.
- Artigas, M.
- Villanueva, M.
- Torrabías, M.
- Campo, M.D.
- Vila, M.T.
- Urioste, M.
- Rosello, M.
- Kantaputra, N.
- Dorao, P.
- Casano, P.
- Mallada, P.L.
- Olivares, P.
- Delgado, R.P.
- Bernardi, P.
- León, R.C.
- Cañete, R.
- Gaztañaga, R.
- Velazquez, R.
- Samahuja, R.V.
- Villaverde, R.S.
- Gracia, R.
- Scott, R.
- Valdez, R.
- Arteaga, R.
- Cedeño, R.
- Cazorla, R.
- Climent, S.
- Barreiro, S.C.
- Kapoor, S.
- Kleppe, S.
- Santillán, S.
- Lopez, T.G.
- Calvo, T.
- Vendrell, T.
- Tirado, P.
- Pacheco, C.T.
- Huertos, A.U.
- Lopez, V.
- Lotersztein, V.
- Méndez, V.
- Martín, S.V.
- Seidel, V.
- Albiach, V.
- López, V.M.N.
- Soler, V.
- Cosentino, V.
Human Mutation (p. 1436-1441) - 1/12/2014
Editor: John Wiley and Sons Inc.
10.1002/humu.22689 View at source
- ISSN 10597794
- ISSN/ISBN 1098-1004
Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias
- Bettencourt C
- Quintáns B
- Ros R
- Ampuero I
- Yáñez Z
- Pascual S
- de Yébenes J
- Sobrido M
Human Mutation (p. 1315-1323) - 1/9/2012
10.1002/humu.22148 View at source
- ISSN 10597794
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
- Sancho, Paula
- Bartesaghi, Luca
- Miossec, Olivia
- Garcia-Garcia, Francisco
- Ramirez-Jimenez, Laura
- Siddell, Anna
- Akesson, Elisabet
- Hedlund, Eva
- Lassuthova, Petra
- Pascual-Pascual, Samuel I.
- Sevilla, Teresa
- Kennerson, Marina
- Lupo, Vincenzo
- Chrast, Roman
- Espinos, Carmen;
Human Molecular Genetics (p. 1629-1644) - 15/5/2019
10.1093/hmg/ddz006 View at source
- ISSN 14602083
Genetic study of SMA patients without homozygous SMN1 deletions: Identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations
- Martín Y
- Valero A
- Del Castillo E
- Pascual S
- Hernández-Chico C
Human Genetics (p. 257-263) - 1/3/2002
10.1007/s00439-002-0681-y View at source
- ISSN 03406717
Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study
- Tapias, Gloria
- García Romero, Mar
- Crespo, Carlos
- Cuesta, Maribel
- Forné Izquierdo, Carles
- Pascual Pascual, Samuel Ignacio
Farmacia Hospitalaria (p. 412-426) - 1/9/2016
10.7399/fh.2016.40.5.10429 View at source
- ISSN 11306343
Introducción y clasificación de las hipotonías
- Pascual Pascual, Samuel Ignacio
Trasplante Hepático (p. 2247-2253) - 1/1/2014
- iMarina
Neuropatías periféricas
- Pascual Pascual, Samuel Ignacio
- San Antonio Arce, V
Trasplante Hepático (p. 2256-2270) - 1/1/2014
- iMarina
Miopatías con miotonía y síndromes de hiperactividad muscular
- Pascual Pascual, Samuel Ignacio
- Bravo Oro, A
Trasplante Hepático (p. 2294-2302) - 1/1/2014
- iMarina
Tratamiento preventivo y paliativo con toxina botulínica de la cadera en el niño con parálisis cerebral infantil
- Pascual Pascual, Samuel Ignacio
Revista De Neurologia (p. 80-82) - 1/7/2003
- ISSN 02100010
- iMarina
The IV national congress of the spanish society of pediatric neurology. Advances in peripheral neuropathies: Introduction
- Pascual S
Revista De Neurologia - 1/8/2002
- ISSN 02100010
- iMarina
PLASMA-METABOLITE AND SKIN-PROTEIN SIGNATURES OF CHARCOT-MARIE-TOOTH 1A PROVIDE MOLECULAR MARKERS OF DISEASE AND SUGGEST FUTURE THERAPEUTIC INTERVENTIONS
- Soldevilla, B.
- Cuevas-Martin, C.
- Ibanez, C.
- Alberti, M. A.
- Simo, C.
- Santacatterina, F.
- Casasnovas, C.
- Marquez, C.
- Sevilla, T.
- Pascual, S., I
- Sanchez-Arago, M.
- Espinos
- Palau, F.
- Cuezva, J. M.;TREAT-CMT Consortium
Journal Of The Peripheral Nervous System (p. 302-302) - 1/1/2016
- ISSN 10859489
- iMarina
EXPANDING OUR KNOWLEDGE OF CONGENITAL DISORDER OF GLYCOSYLATION-DPAGT1 TYPE
- Pascual Pascual, Samuel Ignacio
- Perez Villacastin, Benjamin
- Perez, B
- Vega, A
- Medrano, C
- Martin-Higueras, C
- Pascual, S, I
- Arroyo, I
- Domingo, R
- Artuch, R
- Briones, P
- Ugarte, M
- Perez-Cerda, C
Journal Of Inherited Metabolic Disease (p. S113-S113) - 1/1/2012
- ISSN 01418955
- iMarina
Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme (R)
- Pascual Pascual, Samuel Ignacio;
Advances In Experimental Medicine And Biology (p. 39-46) - 1/12/2009
10.1007/978-90-481-2813-6_4 View at source
- ISSN 00652598
Calpain deficiency in Spain and Aquitania
- Saenz A
- De Diego C
- Cobo A
- Lasa A
- Urtasun M
- Del Rio E
- Rodriguez M
- Poza J
- Coll J
- Colomer J
- Ferrer X
- Gamez J
- Gutierrez-Rivas E
- Hermosilla E
- Martinez M
- Molina M
- Navarro C
- Pascual S
- Ramos M
- Sanchez R
- Tejada I
- Vilchez J
- Richard I
- Beckmann J
- Illa I
- Urtizberea J
- Baiget M
- Gallano P
- Lopez De Munain A
Acta Myologica - 1/1/1999
- ISSN 11282460
- iMarina
[Carlevoix-Saguenay type recessive spastic ataxia. A report of a Spanish case]
- Pascual Pascual, Samuel Ignacio
- Pascual-Castroviejo, I
- Pascual-Pascual, S I
- Viano, J
- Martinez, V
Revista De Neurologia (p. 36-38) - 1/7/2000
- ISSN 02100010
- iMarina
[Cervical spinal cord compression in chondrodysplasia punctata: report of two cases]
- Pascual Pascual, Samuel Ignacio
- Pascual-Castroviejo, I
- Pascual-Pascual, S I
- Garcia-Penas, J J
- Hernandez-Moneo, J L
Revista De Neurologia (p. 826-829) - 1/11/2004
- ISSN 02100010
- iMarina
[Aggression and mental retardation associated with bilateral cortical and subcortical atrophy]
- Pascual Pascual, Samuel Ignacio
- Pascual-Castroviejo, I
- Pascual Pascual, S I
- Gonzalez-Rodriguez, A
- Viano, J
- Martinez, V
Revista De Neurologia (p. 1169-1171) - 16/12/1999
- ISSN 02100010
- iMarina
Facial haemangioma, agenesis of the internal carotid artery and dysplasia of cerebral cortex: case report
- Pascual Castroviejo, Ignacio
- Pascual Pascual, Samuel Ignacio
- Pascual-Castroviejo, I
- Viano, J
- Pascual-Pascual, S I
- Martinez, V
Neuroradiology (p. 692-695) - 1/11/1995
- ISSN 00283940
- iMarina
Unilateral somatic and intracranial hypoplasia
- Pascual Castroviejo, Ignacio
- Pascual Pascual, Samuel Ignacio
- Pascual-Castroviejo, I
- Pascual-Pascual, S I
- Viano, J
- Martinez, V
Neuropediatrics (p. 341-344) - 1/1/1997
10.1055/s-2007-973729 View at source
- ISSN 0174304X
Generalized nerve sheath tumors in neurofibromatosis type 1 (NF1). A case report
- Pascual Castroviejo, Ignacio
- Pascual Pascual, Samuel Ignacio
- Pascual-Castroviejo, I
- Pascual-Pascual, S I
- Viano, J
- Martinez, V
Neuropediatrics (p. 211-213) - 26/10/2000
10.1055/s-2000-7458 View at source
- ISSN 0174304X
Sturge-Weber syndrome without facial nevus
- Pascual Castroviejo, Ignacio
- Pascual Pascual, Samuel Ignacio
- Pascual-Castroviejo, I
- Pascual-Pascual, S I
- Viano, J
- Martinez, V
- Coya, J
Neuropediatrics (p. 220-222) - 1/1/1995
10.1055/s-2007-979759 View at source
- ISSN 0174304X
Do cutaneous hemangiomas and internal vascular anomalies follow the same evolution?
- Pascual Castroviejo, Ignacio
- Pascual Pascual, Samuel Ignacio
- Pascual-Castroviejo, I
- Viano, J
- Pascual-Pascual, S I
- Martinez, V
Neurology (p. 140-141) - 8/7/2003
10.1212/01.wnl.0000069660.93514.b8
- ISSN 00283878
- iMarina
[Posttraumatic intention tremor. Report of a case with a lesion in the mesencephalic area]
- Pascual Pascual, Samuel Ignacio
- Pascual-Castroviejo, I
- Pascual Pascual, S I
- Viano, J
- Martinez, V
Neurologia (p. 128-131) - 1/3/2000
- ISSN 15781968
- iMarina
This researcher has no technical reports.
This researcher has no research projects.
Toxoplasma gondii antibody prevalence in Libyan epileptic children. A contolled study
- Pascual Pascual, Samuel Ignacio (Autor o Coautor)
- Soriano Guillen, Leandro (Autor o Coautor)
- Aracil Santos, Francisco Javier (Autor o Coautor)
- F (Director) Doctorando: Fátima Emhamed Alshaibani
1/1/2017
- iMarina
Factores pronósticos de los ictus isquémicos en niños con cardiopatías
- Garcia-Guereta Silva, Luis (Autor o Coautor)
- Argente Oliver, Jesús (Autor o Coautor)
- Andrés J. Alcaraz Romero (Director)
- Samuel Ignacio Pascual Pascual (Director) Doctorando: María Vázquez López
1/1/2015
- iMarina
Efectividad del cannabidiol en el tratamiento de las epilepsias refractarias
- Serratosa Fernandez, Jose Maria (Autor o Coautor)
- Samuel Ignacio Pascual Pascual (Director) Doctorando: Pesántez Ríos, María Gabriela
27/10/2021
- iMarina
Análisis de la maduración a largo plazo de las funciones visuoespaciales de los niños prematuros
- Pascual Pascual, Samuel Ignacio (Director) Doctorando: Miranda Herrero, María Concepción
21/1/2016
- iMarina
Estudio de una cohorte de pacientes con enfermedad de Lesch Nyhan: Valoración clínica y manejo terapéutico de las complicaciones neurológicas
- Samuel Ignacio Pascual Pascual (Director) Doctorando: Mar García Romero
1/1/2023
- iMarina
This researcher has no patents or software licenses.
Research groups
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Laboratorio De Análisis De Movimiento Humano
Role: Miembro
Researcher profiles
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ORCID
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Scopus Author ID
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Dialnet id