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Year Number of Results
2013 1
2015 3
2017 2
2018 2
2019 1
2020 5
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Page 1
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.
Marcos AT, Martín-Doncel E, Morejón-García P, Marcos-Alcalde I, Gómez-Puertas P, Segura-Puimedon M, Armengol L, Navarro-Pando JM, Lazo PA. Marcos AT, et al. Among authors: Marcos-Alcalde I. Ann Clin Transl Neurol. 2020 May;7(5):808-818. doi: 10.1002/acn3.51050. Epub 2020 May 4. Ann Clin Transl Neurol. 2020. PMID: 32365420 Free PMC article.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard AM, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC. Krab LC, et al. Among authors: Marcos-Alcalde I. Hum Genet. 2020 May;139(5):575-592. doi: 10.1007/s00439-020-02138-2. Epub 2020 Mar 19. Hum Genet. 2020. PMID: 32193685 Free PMC article.
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J. Latorre-Pellicer A, et al. Among authors: Marcos-Alcalde I. Int J Mol Sci. 2020 Feb 4;21(3):1042. doi: 10.3390/ijms21031042. Int J Mol Sci. 2020. PMID: 32033219 Free PMC article.
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
Gudmundsson S, Annerén G, Marcos-Alcalde Í, Wilbe M, Melin M, Gómez-Puertas P, Bondeson ML. Gudmundsson S, et al. Among authors: Marcos-Alcalde I. Eur J Med Genet. 2019 Jun;62(6):103526. doi: 10.1016/j.ejmg.2018.08.007. Epub 2018 Aug 17. Eur J Med Genet. 2019. PMID: 30125677 Review.
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
Puisac B, Marcos-Alcalde I, Hernández-Marcos M, Tobajas Morlana P, Levtova A, Schwahn BC, DeLaet C, Lace B, Gómez-Puertas P, Pié J. Puisac B, et al. Among authors: Marcos-Alcalde I, Hernandez-Marcos M. Int J Mol Sci. 2018 Mar 28;19(4):1010. doi: 10.3390/ijms19041010. Int J Mol Sci. 2018. PMID: 29597274 Free PMC article.
Two-step ATP-driven opening of cohesin head.
Marcos-Alcalde Í, Mendieta-Moreno JI, Puisac B, Gil-Rodríguez MC, Hernández-Marcos M, Soler-Polo D, Ramos FJ, Ortega J, Pié J, Mendieta J, Gómez-Puertas P. Marcos-Alcalde Í, et al. Among authors: Hernandez-Marcos M. Sci Rep. 2017 Jun 12;7(1):3266. doi: 10.1038/s41598-017-03118-9. Sci Rep. 2017. PMID: 28607419 Free PMC article.
A Practical Quantum Mechanics Molecular Mechanics Method for the Dynamical Study of Reactions in Biomolecules.
Mendieta-Moreno JI, Marcos-Alcalde I, Trabada DG, Gómez-Puertas P, Ortega J, Mendieta J. Mendieta-Moreno JI, et al. Among authors: Marcos-Alcalde I. Adv Protein Chem Struct Biol. 2015;100:67-88. doi: 10.1016/bs.apcsb.2015.06.003. Epub 2015 Jul 15. Adv Protein Chem Struct Biol. 2015. PMID: 26415841 Free article. Review.
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