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43 results on '"Gomez, C.M."'

11. De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus

Author

Nabais Sá, M.J., Olson, A.N., Yoon, G., Nimmo, G.A.M., Gomez, C.M., Willemsen, M.A., Millan, F., Schneider, A., Pfundt, R.P., Brouwer, A.P.M. de, Dinman, J.D., Vries, B.B.A. de, Nabais Sá, M.J., Olson, A.N., Yoon, G., Nimmo, G.A.M., Gomez, C.M., Willemsen, M.A., Millan, F., Schneider, A., Pfundt, R.P., Brouwer, A.P.M. de, Dinman, J.D., and Vries, B.B.A. de

Abstract

Contains fulltext : 231523.pdf (Publisher’s version ) (Closed access), Eukaryotic translation elongation factor 2 (eEF2) is a key regulatory factor in gene expression that catalyzes the elongation stage of translation. A functionally impaired eEF2, due to a heterozygous missense variant in the EEF2 gene, was previously reported in one family with spinocerebellar ataxia-26 (SCA26), an autosomal dominant adult-onset pure cerebellar ataxia. Clinical exome sequencing identified de novo EEF2 variants in three unrelated children presenting with a neurodevelopmental disorder (NDD). Individuals shared a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly. Populational data and bioinformatic analysis underscored the pathogenicity of all de novo missense variants. The eEF2 yeast model strains demonstrated that patient-derived variants affect cellular growth, sensitivity to translation inhibitors and translational fidelity. Consequently, we propose that pathogenic variants in the EEF2 gene, so far exclusively associated with late-onset SCA26, can cause a broader spectrum of neurologic disorders, including childhood-onset NDDs and benign external hydrocephalus.

Published
2021

18. Alternate-response preparation in a visuomotor serial task

Author

Gomez, C.M., Vaquero, E., Vazquez, M., Gonzalez-Rosa, J.J., and Cardoso, M.J.

Subjects
Motor ability -- Research, Motor learning, Fallacies (Logic), Psychology and mental health
Abstract

ABSTRACT. The preparation of a particular motor pattern is related to the information available that enables the actor to predict the correct response to a forthcoming stimulus. In many situations, [...]

Published
2005

22. Thermosetting composites based on bronze particles for archaeological and artistic metal heritage cloning

Author

Universitat Politècnica de València. Departamento de Conservación y Restauración de Bienes Culturales - Departament de Conservació i Restauració de Béns Culturals, Culebras, M., Herrero-Cortell, Miguel Ángel, Gomez, C.M., Mas-Barberà, Xavier, Cantarero, A., Collins, M.N., Universitat Politècnica de València. Departamento de Conservación y Restauración de Bienes Culturales - Departament de Conservació i Restauració de Béns Culturals, Culebras, M., Herrero-Cortell, Miguel Ángel, Gomez, C.M., Mas-Barberà, Xavier, Cantarero, A., and Collins, M.N.

Abstract

[EN] Artificial Metals are polymeric semi-metallic composites obtained by combining thermosetting resins with atomized metal powders in order to achieve composite materials capable of reproducing metals, even in a rusty or corroded condition. These composites provide a solution for the reproduction of archaeological artefacts, sculptures, and ornaments for the purpose of conservation. This work explores mechanical properties of three different resins bronze composites loaded with two different proportions of metal filler. The degree of conversion of the samples was measured by differential scanning calorimetry (DSC) and flexural tests were carried out to determine their mechanical performance. In addition, the samples were characterized by scanning electron microscopy (SEM) in order to determine the morphology of the samples at the microscale.

Published
2018

27. A web-based software system for linkage analysis and information management

Author

Yu, G.Y., Liu, J.X., Xie, D.T., Thompson, R.M., Zayas, R., Raike, R.S., and Gomez, C.M.

Subjects
Human genetics -- Research, Laboratories -- Equipment and supplies, Genotype -- Methods, Software -- Product development, Internet -- Product information, Biological sciences
Published
2001

31. Urticaria-angioedema by deflazacort

Author

Gomez, C.M., primary, Higuero, N.C., additional, Moral de Gregorio, A., additional, Quiles, M.H., additional, Nunez Aceves, A.B., additional, Lara, M.J., additional, and Sanchez, C. S., additional

Published
2002
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33. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

Author

Trouillas, P., primary, Takayanagi, T., additional, Hallett, M., additional, Currier, R.D., additional, Subramony, S.H., additional, Wessel, K., additional, Bryer, A., additional, Diener, H.C., additional, Massaquoi, S., additional, Gomez, C.M., additional, Coutinho, P., additional, Hamida, M.Ben, additional, Campanella, G., additional, Filla, A., additional, Schut, L., additional, Timann, D., additional, Honnorat, J., additional, Nighoghossian, N., additional, and Manyam, B., additional

Published
1997
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36. Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

Author

Paciorkowski, A.R., Shafrir, Y., Hrivnak, J., Patterson, M.C., Tennison, M.B., Clark, H.B., and Gomez, C.M.

Abstract

To provide clinical data on a cohort of 6 patients with massive expansion (>200 CAG repeats) of spinocerebellar ataxia type 2 (SCA2) and investigate possible pathways of pathogenesis using bioinformatics analysis of ATXN2 networks.

Published
2011
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