Zobrazeno 1 - 10
of 69
pro vyhledávání: '"David Gómez-Andrés"'
Autor:
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years
Externí odkaz:
https://doaj.org/article/70206dc27674413fa32490ea7b8a6294
Autor:
Cecilia E. García Cena, David Gómez-Andrés, Irene Pulido-Valdeolivas, Victoria Galán Sánchez-Seco, Angela Domingo-Santos, Sara Moreno-García, Julián Benito-León
Publikováno v:
Sensors, Vol 22, Iss 21, p 8220 (2022)
Despite the importance of cognitive function in multiple sclerosis, it is poorly represented in the Expanded Disability Status Scale (EDSS), the commonly used clinical measure to assess disability, suggesting that an analysis of eye movement, which i
Externí odkaz:
https://doaj.org/article/c42472ad05fe4f838ea1a2fc51a80513
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Allan-Herndon-Dudley syndrome is a rare disease caused by inactivating mutations in the SLC16A2 gene, which encodes the monocarboxylate transporter 8 (MCT8), a transmembrane transporter specific for thyroid hormones (T3 and T4). Lack of MCT8 function
Externí odkaz:
https://doaj.org/article/b7a45ec4ce1946a29d7ce981df4cde9c
Autor:
Cecilia García Cena, Mariana Campos Costa, Roque Saltarén Pazmiño, Cristina Peixoto Santos, David Gómez-Andrés, Julián Benito-León
Publikováno v:
Sensors, Vol 22, Iss 4, p 1481 (2022)
There is much evidence pointing out eye movement alterations in several neurological diseases. To the best of our knowledge, this is the first video-oculography study describing potential alterations of eye movements in the post-COVID-19 condition. V
Externí odkaz:
https://doaj.org/article/4bcb33b556944e8c9891f33a9c6e60e4
Autor:
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/0e4b801abb444498b21632827b1c6ec4
Autor:
Irene Pulido-Valdeolivas, David Gómez-Andrés, Juan Andrés Martín-Gonzalo, Irene Rodríguez-Andonaegui, Javier López-López, Samuel Ignacio Pascual-Pascual, Estrella Rausell
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0192345 (2018)
The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. Classification of these phenotypes may help in monito
Externí odkaz:
https://doaj.org/article/ca2c1267bd714f989a1a792a8015683b
Autor:
Juan-Andrés Martín-Gonzalo, Irene Pulido-Valdeolivas, Yu Wang, Ting Wang, Guadalupe Chiclana-Actis, Maria del Carmen Algarra-Lucas, Itziar Palmí-Cortés, Jorge Fernández Travieso, Maria Dolores Torrecillas-Narváez, Ambrosio A. Miralles-Martinez, Estrella Rausell, David Gómez-Andrés, Massimiliano Zanin
Publikováno v:
Entropy, Vol 21, Iss 9, p 868 (2019)
Gait is a basic cognitive purposeful action that has been shown to be altered in late stages of neurodegenerative dementias. Nevertheless, alterations are less clear in mild forms of dementia, and the potential use of gait analysis as a biomarker of
Externí odkaz:
https://doaj.org/article/7a37b60855344f92af7f8936f96ae3bc
Autor:
Massimiliano Zanin, David Gómez-Andrés, Irene Pulido-Valdeolivas, Juan Andrés Martín-Gonzalo, Javier López-López, Samuel Ignacio Pascual-Pascual, Estrella Rausell
Publikováno v:
Entropy, Vol 20, Iss 1, p 77 (2018)
Cerebral palsy is a physical impairment stemming from a brain lesion at perinatal time, most of the time resulting in gait abnormalities: the first cause of severe disability in childhood. Gait study, and instrumental gait analysis in particular, has
Externí odkaz:
https://doaj.org/article/d70f9b04bcb74920a1e789ae23770b13
Autor:
Soledad Bárez-López, Daniel Bosch-García, David Gómez-Andrés, Irene Pulido-Valdeolivas, Ana Montero-Pedrazuela, Maria Jesus Obregon, Ana Guadaño-Ferraz
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e103857 (2014)
BackgroundThyroid hormones have a key role in both the developing and adult central nervous system and skeletal muscle. The thyroid gland produces mainly thyroxine (T4) but the intracellular concentrations of 3,5,3'-triiodothyronine (T3; the transcri
Externí odkaz:
https://doaj.org/article/04265b4b1eda428496833123af502faa
Autor:
Cecilia E. García Cena, Luís Silva, Fabián H. Diaz Palencia, María Islán Moríñigo, Cristina P. Santos, Roque Saltarén Pazmiño, Julian Benito-León, David Gómez-Andrés
Nowadays, the measurement of respiratory dynamics is underrated at clinical setting and in the daily life of a subject, still representing a challenge from a technical and medical point of view. In this article we propose a concept to measure some of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2659::8dc1329d01c89b680d00c03c5bf473b4
https://zenodo.org/record/8104480
https://zenodo.org/record/8104480
