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Page 1
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento A, Olivé M, Quan J, Sardina MD, Martí R, Paradas C. Domínguez-González C, et al. Among authors: paradas c. Orphanet J Rare Dis. 2021 Oct 2;16(1):407. doi: 10.1186/s13023-021-02030-w. Orphanet J Rare Dis. 2021. PMID: 34600563 Free PMC article. Review.
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M, Gallano P. Juan-Mateu J, et al. Among authors: paradas c. Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82. Orphanet J Rare Dis. 2012. PMID: 23092449 Free PMC article.
TK2 mutation presenting as indolent myopathy.
Paradas C, Gutiérrez Ríos P, Rivas E, Carbonell P, Hirano M, DiMauro S. Paradas C, et al. Neurology. 2013 Jan 29;80(5):504-6. doi: 10.1212/WNL.0b013e31827f0ff7. Epub 2013 Jan 9. Neurology. 2013. PMID: 23303857 Free PMC article.
Branching enzyme deficiency: expanding the clinical spectrum.
Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S. Paradas C, et al. JAMA Neurol. 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888. JAMA Neurol. 2014. PMID: 24248152 Free PMC article.
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.
Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C. Cabrera-Serrano M, et al. Among authors: paradas c. Neurology. 2018 Jul 24;91(4):e339-e348. doi: 10.1212/WNL.0000000000005862. Epub 2018 Jun 27. Neurology. 2018. PMID: 29950440 Free PMC article.
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
GóMez-Andrés D, Díaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, GonzáLez-Mera L, Olivé M, Vilchez JJ, De Munain AL, Paradas C, Muelas N, SáNchez-MontáÑez Á, Alonso-Jimenez A, De la Banda MGG, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S. GóMez-Andrés D, et al. Among authors: paradas c. Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18. Muscle Nerve. 2018. PMID: 30066418 Free article.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J. Alonso-Jimenez A, et al. Among authors: paradas c. J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30530568
PDGF-BB serum levels are decreased in adult onset Pompe patients.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, Figueroa-Bonaparte S, Belmonte I, Pedrosa I, Montiel E, Suárez-Calvet X, Alonso-Pérez J, Segovia S, Nuñez-Peralta C, Llauger J, Mayos M, Illa I; Spanish Pompe Study Group; Díaz-Manera J. Fernández-Simón E, et al. Sci Rep. 2019 Feb 14;9(1):2139. doi: 10.1038/s41598-018-38025-0. Sci Rep. 2019. PMID: 30765719 Free PMC article.
85 results