Computer Vision for Gait Assessment in Cerebral Palsy: Metric Learning and Confidence Estimation

Autor: Peijun Zhao, Moises Alencastre-Miranda, Zhan Shen, Ciaran O'Neill, David Whiteman, Javier Gervas-Arruga, Hermano Igo Krebs

Publikováno v: IEEE Transactions on Neural Systems and Rehabilitation Engineering, Vol 32, Pp 2336-2345 (2024)

Assessing the motor impairments of individuals with neurological disorders holds significant importance in clinical practice. Currently, these clinical assessments are time-intensive and depend on qualitative scales administered by trained healthcare

Externí odkaz: https://doaj.org/article/03c084e5140e420796fe81bd5176abd6

Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients

Autor: Jorge J. Cebolla, Pilar Giraldo, Jessica Gómez, Carmen Montoto, Javier Gervas-Arruga

Publikováno v: International Journal of Molecular Sciences, Vol 25, Iss 16, p 8586 (2024)

Type 1 Gaucher disease (GD1) is a rare, autosomal recessive disorder caused by glucocerebrosidase deficiency. Skeletal manifestations represent one of the most debilitating and potentially irreversible complications of GD1. Although imaging studies a

Externí odkaz: https://doaj.org/article/84f700e4407245eea57e0e0dc29f88b3

The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease.

Autor: Javier Gervas-Arruga, Jorge Javier Cebolla, Ignacio de Blas, Mercedes Roca, Miguel Pocovi, Pilar Giraldo

Publikováno v: PLoS ONE, Vol 10, Iss 5, p e0126153 (2015)

Gaucher disease, the most common lysosomal storage disorder, is caused by β-glucocerebrosidase deficiency. Bone complications are the major cause of morbidity in patients with type 1 Gaucher disease (GD1). Genetic components strongly influence bone

Externí odkaz: https://doaj.org/article/16b9cbd23fd74e4b82e71e7c214c4926

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene

Autor: Pilar Irún, Luis Plaza, José C. Rodríguez-Rey, Javier Gervas-Arruga, Pilar Giraldo, Jose C. Roche, Javier Pérez-López, Miguel Pocovi, Jose Luis Capablo, Jorge J. Cebolla

Publikováno v: BMC Genetics
BMC Genetics. 2015 Sep 3;16(1):109
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)

BACKGROUND: Accumulation of galactosphingolipids is a general characteristic of Fabry disease, a lysosomal storage disorder caused by the deficient activity of α-galactosidase A encoded by the GLA gene. Although many polymorphic GLA haplotypes have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba84e7011176a0d66eba464300347b8
http://europepmc.org/articles/PMC4558912

Increased serum interleukin-17 levels in patients with myasthenia gravis

Autor: Alejandro Sánchez, José L. Capablo, Jose R. Ara, Javier Gervas-Arruga, Jose C. Roche, Raquel Alarcia, Luis Larrad

Publikováno v: Muscle & Nerve. 44:278-280

It has been suggested that interleukin-17 (IL-17) plays a crucial role in the development of several autoimmune diseases. However, there are no data about the relationship between myasthenia gravis and IL-17. The aim of this study was to measure the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::41bfdd833b4bcca4f485f4737feca6d2
https://doi.org/10.1002/mus.22070