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Page 1
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. Among authors: cancho candela r. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
COVID-19 in children with neuromuscular disorders.
Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A; Neuromuscular Working Group of Spanish Pediatric Neurology Society. Natera-de Benito D, et al. Among authors: cancho candela r. J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2. J Neurol. 2021. PMID: 33387010 Free PMC article.
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study.
Hedrera-Fernandez A, Cancho-Candela R, Arribas-Arceredillo M, Garrido-Barbero M, Conejo-Moreno D, Sariego-Jamardo A, Perez-Poyato MS, Rodriguez-Fernandez C, Del Villar-Guerra P, Bermejo-Arnedo I, Peña-Valenceja A, Maldonado-Ruiz E, Ortiz-Madinaveitia S, Camina-Gutierrez AB, Blanco-Lago R, Malaga I. Hedrera-Fernandez A, et al. Among authors: cancho candela r. Neuropediatrics. 2021 Jun;52(3):192-200. doi: 10.1055/s-0041-1725008. Epub 2021 Mar 3. Neuropediatrics. 2021. PMID: 33657631
[Para-infectious seizures: A retrospective multicentre study].
Conejo Moreno D, Rodríguez Fernández C, Ruíz Ayúcar de la Vega I, Ortiz Madinaveitia S, Hedrera Fernández A, Maldonado Ruiz E, Hernández Fabian A, Hortigüela Saeta MM, Cancho Candela R. Conejo Moreno D, et al. An Pediatr (Barc). 2016 Dec;85(6):300-304. doi: 10.1016/j.anpedi.2016.01.023. Epub 2016 Mar 7. An Pediatr (Barc). 2016. PMID: 26965991 Free article. Spanish.
[Benign convulsions with mild rotavirus gastroenteritis].
Cancho-Candela R, Peña-Valenceja A, Alcalde-Martín C, Ayuso-Fernández M, Medrano-Sánchez O, Ochoa-Sangrador C. Cancho-Candela R, et al. Rev Neurol. 2009 Sep 1-15;49(5):230-3. Rev Neurol. 2009. PMID: 19714552 Free article. Spanish.
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).
Alcalde-Martín C, Muro-Tudelilla JM, Cancho-Candela R, Gutiérrez-Solana LG, Pintos-Morell G, Martí-Herrero M, Munguira-Aguado P, Galán-Gómez E. Alcalde-Martín C, et al. Eur J Med Genet. 2010 Nov-Dec;53(6):371-7. doi: 10.1016/j.ejmg.2010.07.013. Epub 2010 Aug 10. Eur J Med Genet. 2010. PMID: 20709629
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Izquierdo-Serra M, Martínez-Monseny AF, López L, Carrillo-García J, Edo A, Ortigoza-Escobar JD, García Ó, Cancho-Candela R, Carrasco-Marina ML, Gutiérrez-Solana LG, Cuadras D, Muchart J, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Macaya A, Fernández-Fernández JM, Serrano M. Izquierdo-Serra M, et al. Int J Mol Sci. 2018 Feb 22;19(2):619. doi: 10.3390/ijms19020619. Int J Mol Sci. 2018. PMID: 29470411 Free PMC article.
Visual Impairment Due to Lissencephaly.
Marqués-Fernández VE, Sánchez-Tocino H, Escudero-Caro MT, Cancho-Candela R, García-Zamora M. Marqués-Fernández VE, et al. Neuroophthalmology. 2016 Jul 21;40(5):229-233. doi: 10.1080/01658107.2016.1206127. eCollection 2016 Oct. Neuroophthalmology. 2016. PMID: 27928411 Free PMC article.
Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders.
Olivé-Cirera G, Fonseca E, Cantarín-Extremera V, Vázquez-López M, Jiménez-Legido M, González-Álvarez V, Ribeiro-Constante J, Camacho-Salas A, Martí I, Cancho-Candela R, Martínez-González MJ, Saiz A, Armangué T; Spanish Study Group NeuroimmunoPed-Covid. Olivé-Cirera G, et al. Among authors: cancho candela r. Neurol Neuroimmunol Neuroinflamm. 2021 Nov 10;9(1):e1101. doi: 10.1212/NXI.0000000000001101. Print 2022 Jan. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34759018 Free PMC article.
33 results