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Year Number of Results
2007 2
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2010 3
2012 2
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2014 3
2015 3
2016 6
2017 4
2018 6
2019 11
2020 16
2021 16
2022 18
2023 17
2024 14

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110 results

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Page 1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
[Myotonic dystrophy and primary care].
Domínguez-González C. Domínguez-González C. Semergen. 2020 Oct;46(7):439-440. doi: 10.1016/j.semerg.2020.09.001. Epub 2020 Oct 7. Semergen. 2020. PMID: 33039262 Spanish. No abstract available.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Autoantibody screening in Guillain-Barré syndrome.
Lleixà C, Martín-Aguilar L, Pascual-Goñi E, Franco T, Caballero M, de Luna N, Gallardo E, Suárez-Calvet X, Martínez-Martínez L, Diaz-Manera J, Rojas-García R, Cortés-Vicente E, Turón J, Casasnovas C, Homedes C, Gutiérrez-Gutiérrez G, Jimeno-Montero MC, Berciano J, Sedano-Tous MJ, García-Sobrino T, Pardo-Fernández J, Márquez-Infante C, Rojas-Marcos I, Jericó-Pascual I, Martínez-Hernández E, Morís de la Tassa G, Domínguez-González C, Juárez C, Illa I, Querol L. Lleixà C, et al. Among authors: dominguez gonzalez c. J Neuroinflammation. 2021 Nov 1;18(1):251. doi: 10.1186/s12974-021-02301-0. J Neuroinflammation. 2021. PMID: 34719386 Free PMC article.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: dominguez gonzalez c. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Sivera R, Pelayo-Negro AL, Jericó I, Domínguez-González C, Horga A, Rodriguez De Rivera FJ, Gallardo E, Tembl JI, Bermejo-Guerrero L, Pagola Lorz MI, Azorín I, Cordoba M, Fenollar-Cortés MDM, Millet E, Vilchez JJ, Espinós C, Apellániz-Ruiz M, Sevilla T. Sivera R, et al. Among authors: dominguez gonzalez c. Neurology. 2024 Apr 9;102(7):e209174. doi: 10.1212/WNL.0000000000209174. Epub 2024 Mar 21. Neurology. 2024. PMID: 38513194
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F, Serrano-Lorenzo P, Bermejo-Guerrero L, Blázquez A, Quesada-Espinosa JF, Amigo J, Minguez P, Ayuso C, García-Arumí E, Muelas N, Jaijo T, Nascimento A, Galán-Rodriguez B, Paradas C, Arenas J, Carracedo A, Martí R, Martín MA, Domínguez-González C; for TK2d Spanish-Group. Ceballos F, et al. Among authors: dominguez gonzalez c. Neurol Genet. 2024 Mar 25;10(2):e200138. doi: 10.1212/NXG.0000000000200138. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38544965 Free PMC article.
Repurposing chemotherapy-induced peripheral neuropathy grading.
Velasco R, Argyriou AA, Cornblath DR, Bruna P, Alberti P, Rossi E, Merkies ISJ, Psimaras D, Briani C, Lalisang RI, Schenone A, Cavaletti G, Bruna J; CI‐PeriNomS Group. Velasco R, et al. Eur J Neurol. 2024 Dec;31(12):e16457. doi: 10.1111/ene.16457. Epub 2024 Sep 16. Eur J Neurol. 2024. PMID: 39282967 Free PMC article.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: dominguez gonzalez c. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
110 results