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Items: 1 to 20 of 22

1.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E.

Med Clin (Barc). 2019 Jan 24. pii: S0025-7753(18)30731-0. doi: 10.1016/j.medcli.2018.10.028. [Epub ahead of print] English, Spanish.

PMID:
30685181
2.

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.

Machuca C, Vilches A, Clemente E, Pascual-Pascual SI, Bolinches-Amorós A, Artero Castro A, Espinos C, Leon M, Jendelova P, Erceg S.

Stem Cell Res. 2018 Dec;33:166-170. doi: 10.1016/j.scr.2018.10.016. Epub 2018 Oct 12.

3.

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.

Arellano CM, Vilches A, Clemente E, Pascual-Pascual SI, Bolinches-Amorós A, Castro AA, Espinos C, Rodriguez ML, Jendelova P, Erceg S.

Stem Cell Res. 2018 Aug;31:249-252. doi: 10.1016/j.scr.2018.07.012. Epub 2018 Jul 27.

4.

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.

Pulido-Valdeolivas I, Gómez-Andrés D, Martín-Gonzalo JA, Rodríguez-Andonaegui I, López-López J, Pascual-Pascual SI, Rausell E.

PLoS One. 2018 Mar 8;13(3):e0192345. doi: 10.1371/journal.pone.0192345. eCollection 2018.

5.

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group.

N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.

6.

[Quality of life heart-disease children who have suffered from an arterial ischemic stroke].

Vázquez López M, Castro de Castro P, Gil Villanueva N, Alcaraz Romero AJ, Pascual Pascual SI.

An Pediatr (Barc). 2018 Mar;88(3):167-169. doi: 10.1016/j.anpedi.2017.04.001. Epub 2017 May 24. Spanish. No abstract available.

7.

Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study.

Tapias G, García-Romero M, Crespo C, Cuesta M, Forné C, Pascual-Pascual SI.

Farm Hosp. 2016 Sep 1;40(5):412-26. doi: 10.7399/fh.2016.40.5.10429.

8.

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou C, Nascimento A, Jiménez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M, Gallano P.

PLoS One. 2013;8(3):e59916. doi: 10.1371/journal.pone.0059916. Epub 2013 Mar 25.

9.

[Corpus callosum tumor as the presenting symptom of neurofibromatosis type 1 in a patient and literature review].

Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J.

Rev Neurol. 2012 Nov 1;55(9):528-32. Review. Spanish.

10.

Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum.

Pascual-Castroviejo I, Pascual-Pascual SI.

Childs Nerv Syst. 2012 Dec;28(12):2177-80. doi: 10.1007/s00381-012-1903-9. Epub 2012 Sep 22.

PMID:
23001021
11.

Bilateral spinal neurofibromas in patients with neurofibromatosis 1.

Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J, Velazquez-Fragua R, López-Gutierrez JC.

Brain Dev. 2012 Aug;34(7):563-9. doi: 10.1016/j.braindev.2011.09.011. Epub 2011 Oct 14.

PMID:
21999966
12.

Treating spastic equinus foot from cerebral palsy with botulinum toxin type A: what factors influence the results?: an analysis of 189 consecutive cases.

Pascual-Pascual SI, Pascual-Castroviejo I, Ruiz PJ.

Am J Phys Med Rehabil. 2011 Jul;90(7):554-63. doi: 10.1097/PHM.0b013e31821f6c40.

PMID:
21765274
13.

Pascual-Castroviejo type II syndrome (P-CIIS). Importance of the presence of persistent embryonic arteries.

Pascual-Castroviejo I, Alvarez-Linera J, Coya J, Viaño J, Pascual-Pascual SI, Velázquez-Fragua R, López-Gutiérrez JC.

Childs Nerv Syst. 2011 Apr;27(4):617-25. doi: 10.1007/s00381-010-1242-7. Epub 2010 Jul 31.

PMID:
20676655
14.

[Retroperitoneal plexiform neurofibromas. A case report of a patient with a tumour of subcutaneous origin].

Pascual-Castroviejo I, Viaño J, Pascual-Pascual SI.

Rev Neurol. 2010 May 1;50(9):558-9. Spanish. No abstract available.

15.

[Cerebral hemisphere tumours in neurofibromatosis type 1 during childhood].

Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J, Velázquez-Fragua R, Carceller-Benito F, Gutiérrez-Molina M, Morales-Bastos C.

Rev Neurol. 2010 Apr 16;50(8):453-7. Spanish.

16.

Consensus on the appropriate use of intrathecal baclofen (ITB) therapy in paediatric spasticity.

Dan B, Motta F, Vles JS, Vloeberghs M, Becher JG, Eunson P, Gautheron V, Lütjen S, Mall V, Pascual-Pascual SI, Pauwels P, Røste GK.

Eur J Paediatr Neurol. 2010 Jan;14(1):19-28. doi: 10.1016/j.ejpn.2009.05.002. Epub 2009 Jun 21. Review.

PMID:
19541514
17.

Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.

Pascual SI.

Adv Exp Med Biol. 2009;652:39-46. doi: 10.1007/978-90-481-2813-6_4. Review.

PMID:
20225018
18.

Safety of botulinum toxin type A in children younger than 2 years.

Pascual-Pascual SI, Pascual-Castroviejo I.

Eur J Paediatr Neurol. 2009 Nov;13(6):511-5. doi: 10.1016/j.ejpn.2008.10.006. Epub 2008 Nov 25.

PMID:
19036619
19.

Sturge-Weber syndrome: study of 55 patients.

Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J.

Can J Neurol Sci. 2008 Jul;35(3):301-7.

PMID:
18714797
20.

Diplegia due to transcranial knife-blade injury in a 20-month-old child.

Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J.

J Child Neurol. 2006 Apr;21(4):340-1.

PMID:
16900934

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