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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1990 1
1998 1
2001 1
2002 1
2004 1
2005 4
2006 2
2007 4
2008 1
2009 3
2010 9
2011 3
2012 4
2013 8
2014 10
2015 10
2016 10
2017 13
2018 18
2019 18
2020 29
2021 32
2022 27
2023 21
2024 18
2025 25
2026 25

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259 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.
High-Dose Influenza Vaccine to Reduce Hospitalizations.
Pardo-Seco J, Rodríguez-Tenreiro-Sánchez C, Giné-Vázquez I, Mallah N, Mirás-Carballal S, Piñeiro-Sotelo M, Cribeiro-González M, Conde-Pájaro M, González-Pérez JM, Rivero-Calle I, Bello X, Razzini JL, Dacosta-Urbieta A, Salas A, Harris RC, Loiacono MM, van Aalst R, Farré JM, Dufournet M, Johansen ND, Modin D, Biering-Sørensen T, Durán-Parrondo C, Martinón-Torres F; GALFLU Trial Team. Pardo-Seco J, et al. N Engl J Med. 2025 Dec 11;393(23):2303-2312. doi: 10.1056/NEJMoa2509834. Epub 2025 Aug 30. N Engl J Med. 2025. PMID: 40888694 Clinical Trial.
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. Among authors: dominguez gonzalez c. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 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.
[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.
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Carli S, Levarlet A, Diodato D, Bertini ES, Martinelli D, Malandrini A, Lopergolo D, Gallus GN, Ganetzky RD, La Morgia C, Carelli V, Primiano G, Domínguez-González C, Serrano-Lorenzo P, Martín MA, Ardissone A, Lamperti C, Nicoletta V, Klopstock T, Distelmaier F, Zeng L, Büchner B, Mancuso M, Schuelke M, Prigione A, Garone C. Carli S, et al. Among authors: dominguez gonzalez c. Neurology. 2025 Apr;104(7):e213462. doi: 10.1212/WNL.0000000000213462. Epub 2025 Mar 20. Neurology. 2025. PMID: 40112238 Free PMC article.
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Schiava M, Parkhurst Y, Henderson M, Polvikoski T, Valtcheva MV, Nishino I, Inoue M, Nishimori Y, Saito Y, Stojkovic T, Villar-Quiles RN, Romero NB, Evangelista T, Malfatti E, Souvannanorath S, Pegoraro E, Riguzzi P, Monforte M, Bortolani S, Torchia E, Sabatelli M, Tasca G, Straub V, Marini-Bettolo C, Guglieri M, Cetin H, Gelpi E, Klotz S, De Bleecker JL, Alonso-Jimenez A, Baets J, De Ridder W, De Jonghe P, Claeys KG, Thal DR, Bevilacqua JA, Luo S, Zhu W, Lin J, Papadimas G, Papadopoulos C, Zamba-Papanicolaou E, Xirou S, Pal E, Rodolico C, Kostera-Pruszczyk A, Kierdaszuk B, Kaminska A, Muelas N, Vilchez JJ, Domínguez-González C, Hernandez-Lain A, Alonso-Perez J, Nedkova-Hristova V, Aledo C, Oldfors A, Badrising UA, Kushlaf H, Lloyd TE, Ikenaga C, Alfano LN, Quinn CC, Walk D, Vorgerd M, Weihl C, Olivé M, Diaz-Manera J; VCP International Study Group. Schiava M, et al. Among authors: dominguez gonzalez c. Neurol Genet. 2025 Jul 16;11(4):e200265. doi: 10.1212/NXG.0000000000200265. eCollection 2025 Aug. Neurol Genet. 2025. PMID: 40678441 Free PMC article.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. de Bruyn A, et al. Among authors: dominguez gonzalez c. Brain. 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088. Brain. 2023. PMID: 36913258 Free article.
259 results