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Page 1
European consensus table 2006 on botulinum toxin for children with cerebral palsy.
Heinen F, Molenaers G, Fairhurst C, Carr LJ, Desloovere K, Chaleat Valayer E, Morel E, Papavassiliou AS, Tedroff K, Ignacio Pascual-Pascual S, Bernert G, Berweck S, Di Rosa G, Kolanowski E, Krägeloh-Mann I. Heinen F, et al. Among authors: ignacio pascual pascual s. Eur J Paediatr Neurol. 2006 Sep-Nov;10(5-6):215-25. doi: 10.1016/j.ejpn.2006.08.006. Epub 2006 Nov 13. Eur J Paediatr Neurol. 2006. PMID: 17097905 Review.
The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsy.
Heinen F, Desloovere K, Schroeder AS, Berweck S, Borggraefe I, van Campenhout A, Andersen GL, Aydin R, Becher JG, Bernert G, Caballero IM, Carr L, Valayer EC, Desiato MT, Fairhurst C, Filipetti P, Hassink RI, Hustedt U, Jozwiak M, Kocer SI, Kolanowski E, Krägeloh-Mann I, Kutlay S, Mäenpää H, Mall V, McArthur P, Morel E, Papavassiliou A, Pascual-Pascual I, Pedersen SA, Plasschaert FS, van der Ploeg I, Remy-Neris O, Renders A, Di Rosa G, Steinlin M, Tedroff K, Valls JV, Viehweger E, Molenaers G. Heinen F, et al. Among authors: pascual pascual i. Eur J Paediatr Neurol. 2010 Jan;14(1):45-66. doi: 10.1016/j.ejpn.2009.09.005. Epub 2009 Nov 14. Eur J Paediatr Neurol. 2010. PMID: 19914110 Free article. Review.
208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014.
Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European Pompe Consortium (EPOC). Schoser B, et al. Neuromuscul Disord. 2015 Aug;25(8):674-8. doi: 10.1016/j.nmd.2015.04.006. Epub 2015 Apr 21. Neuromuscul Disord. 2015. PMID: 25998612 No abstract available.
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.
Gómez-González C, Pizarro-Sánchez C, Rodríguez-Antolín C, Pascual-Pascual I, Garcia-Romero M, Rodriguez-Jiménez C, de Sancho-Martín R, Del Pozo-Mate Á, Solís-López M, Prior-de Castro C, Torres RJ. Gómez-González C, et al. Among authors: pascual pascual i. Ann Hum Genet. 2022 May;86(3):109-118. doi: 10.1111/ahg.12455. Epub 2021 Dec 20. Ann Hum Genet. 2022. PMID: 34927723
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Poster 485 Safety and Tolerability of AbobotulinumtoxinA (Dysport) in Children (2-17 Years) with Lower Limb Spasticity Due to Cerebral Palsy: A Pooled Analysis of 8 Clinical Trials.
Matthews D, Camba GC, Pascual-Pascual I, Tilton AH, Gormley M, Mahmood A, Picaut P, Snyder D, Delgado MR. Matthews D, et al. Among authors: pascual pascual i. PM R. 2016 Sep;8(9S):S318. doi: 10.1016/j.pmrj.2016.07.403. Epub 2016 Sep 24. PM R. 2016. PMID: 27673230 No abstract available.