Treatabolome DB: linking gene and variants with treatments for rare diseases

Autor: Corvó, A., Matalonga, L., Hernandez-Ferrer, C., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., de Sandre-Giovannoli, Annachiara, Desaphy, J., Altamura, C., Wahbi, K., Vigouroux, C., Zurek, B., Rheinard, C., Andrés, D. Gómez, Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Yaou, R. Ben, Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Bonne, Gisèle

Publikováno v: Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic

International audience; Although next-generation sequencing (NGS) has drastically improved diagnosis for patients with rare diseases (RDs), access to knowledge of effective treatments is still sparse and often unclear. The large number of RDs (>7,000

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3430::992340584d58ba86da21aa04ca150f23
https://hal.science/hal-04086225

Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility

Autor: Atalaia, A, Ferrer, C Hernandez, Corvó, A, Matalonga, L, Thompson, R, Carmody, L, Piscia, D, Macaya, A, Lochmuller, A, Manta, A, Fontaine, B, Vicart, S, Desaphy, JF, Altamura, C, Wahbi, K, de Sandre-Giovannoli, Annachiara, Vigouroux, C, Zurek, B, Rheinard, C, Andrés, D Gómez, Schon, K, Over, L, Brüggemann, N, Lohmann, K, Jennings, MJ, Synofzik, M, Riess, O, Yaou, R Ben, Evangelista, T, Ratnaike, T, Facer, V Bros, Gumus, G, Horvath, R, Chinnery, P, Laurie, S, Graessner, H, Robinson, P, Lochmuller, H, Beltran, S, Bonne, Gisèle

Publikováno v: Solve-RD Annual Meeting 2022
Solve-RD Annual Meeting 2022, Apr 2022, Virtual Conference, Germany

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9650f299996da704195d94198efe534e
https://hal.science/hal-03989222

Implementation of a control and biometric safety of the vascular network of the dorsal side of the hand through digital processing of images

Autor: Wilder D. Herrera, Williams C. Londono, Over L. Leon, Javier Vargas

Publikováno v: 2017 IEEE 3rd Colombian Conference on Automatic Control (CCAC).

This paper presents the development of a system of security biometrie that through digital processing of infrared images, this system allows the recognition of users by means of pictures of veins in the back of the hand caught in the infrared spectru

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e0710ec1bc17e71ae495efb3752d123b
https://doi.org/10.1109/ccac.2017.8276408

An outbreak of gastroenteritis associated with intestinal parasites

Autor: Tuncay, S., Delibaş, S., TONAY INCEBOZ, Over, L., Oral, A. M., Akisü, C., Aksoy, U.

Publikováno v: Scopus-Elsevier

Intestinal protozoa are one of the leading causes of waterborne outbreaks. Stool samples of 196 residents from a village of Izmir, using the public water supply, were collected during an outbreak of gastroenteritis. Patients were asked to fill out a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::51b1e8415f456d4bb89f66c9ecec8b3f
https://avesis.deu.edu.tr/publication/details/0983fd7e-311a-4670-8991-1b6af15b7639/oai

The Treatabolome flags treatable genes and variants: an emerging concept

Autor: Atalaia, A., Hernandez Ferrer, C., Corvó, A., Matalonga, L., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., Jf Desaphy, Altamura, C., Wahbi, K., Annachiara de Sandre-Giovannoli, Vigouroux, C., Zurek, B., Rheinard, C., Gómez Andrés, D., Schon, K., Over, L., Brüggemann, N., Lohmann, K., Mj Jennings, Synofzik, M., Riess, O., Rabah BEN YAOU, Evangelista, T., Ratnaike, T., Bros Facer, V., Gumus, G., Horvath, R., Chinnery, P., Laurie, S., Graessner, H., Robinson, P., Lochmuller, H., Beltran, S., Gisèle Bonne

Publikováno v: HAL
ERN Euro-NMD Webinar on Treatabolome
ERN Euro-NMD Webinar on Treatabolome, Oct 2021, Webinar, Germany

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::28b028f22a7f9c225ccfbd523e435455
https://hal.science/hal-03989142