Novel Metabolomic Approach for Identifying Pathology-Specific Biomarkers in Rare Diseases: A Case Study in Oculopharyngeal Muscular Dystrophy (OPMD)

Autor: Pradeep Harish, Alberto Malerba, Rosemarie H. M. J. M. Kroon, Milad Shademan, Baziel van Engelan, Vered Raz, Linda Popplewell, Stuart G. Snowden

Publikováno v: Metabolites, Vol 13, Iss 6, p 769 (2023)

The identification of metabolomic biomarkers relies on the analysis of large cohorts of patients compared to healthy controls followed by the validation of markers in an independent sample set. Indeed, circulating biomarkers should be causally linked

Externí odkaz: https://doaj.org/article/7b4b232f8a1a4bc39b22afcb63bb9d4d

Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy

Autor: Vered Raz, Rosemarie H. M. J. M. Kroon, Hailiang Mei, Muhammad Riaz, Henk Buermans, Saskia Lassche, Corinne Horlings, Bert De Swart, Johanna Kalf, Pradeep Harish, John Vissing, Szymon Kielbasa, Baziel G. M. van Engelen

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 17, p 6059 (2020)

Small non-coding microRNAs (miRNAs) are involved in the regulation of mRNA stability. Their features, including high stability and secretion to biofluids, make them attractive as potential biomarkers for diverse pathologies. This is the first study r

Externí odkaz: https://doaj.org/article/473e832520454ddd8f1c1af817abbddc

Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy

Autor: Rosemarie H. M. J. M. Kroon, Johanna G. Kalf, Rutger L. Meijers, Bert J. M. de Swart, Ian G. M. Cameron, Jonne Doorduin, Nens van Alfen, Baziel G. M. van Engelen, Corinne G. C. Horlings

Publikováno v: Muscle and Nerve, 66, 4, pp. 453-461
Muscle and Nerve, 66, 453-461

Contains fulltext : 282655.pdf (Publisher’s version ) (Open Access) INTRODUCTION/AIMS: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Quantitative muscle ultrasound (QMUS) assesses structural changes in muscl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::618f4e55d0177fb47fdf8284f11220be
https://repository.ubn.ru.nl/handle/2066/282655

Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy

Autor: Rosemarie H M J M Kroon, Hailiang Mei, Szymon M. Kielbasa, Muhammad Riaz, Corinne G.C. Horlings, Vered Raz, Johanna G. Kalf, Bert J. M. de Swart, Henk P. J. Buermans, Baziel G.M. van Engelen, Saskia Lassche, Pradeep Harish, John Vissing

Publikováno v: International Journal of Molecular Sciences, 21
International Journal of Molecular Sciences, 21(17). MDPI
International Journal of Molecular Sciences, Vol 21, Iss 6059, p 6059 (2020)
Raz, V, Kroon, R H M J M, Mei, H, Riaz, M, Buermans, H, Lassche, S, Horlings, C, De Swart, B, Kalf, J, Harish, P, Vissing, J, Kielbasa, S & van Engelen, B G M 2020, ' Age-associated salivary microRNA biomarkers for oculopharyngeal muscular dystrophy ', International Journal of Molecular Sciences, vol. 21, no. 17, 6059, pp. 1-15 . https://doi.org/10.3390/ijms21176059
International Journal of Molecular Sciences, 21, 17
International Journal of Molecular Sciences
Volume 21
Issue 17

Small non-coding microRNAs (miRNAs) are involved in the regulation of mRNA stability. Their features, including high stability and secretion to biofluids, make them attractive as potential biomarkers for diverse pathologies. This is the first study r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282acbf1e4679b2cc7814a0dffb677d1
http://hdl.handle.net/2066/224621

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

Autor: Adolfo López de Munain, Germán Morís, María José Gómez Rodríguez, Tanya Stojkovic, Lidia Gonzalez-Quereda, Alba Ramos-Fransi, Ana L. Pelayo-Negro, Ivonne Ingrid Zamorano, Pascal Laforêt, Baziel G.M. van Engelen, Corinne G.C. Horlings, Claudia Nuñez-Peralta, Anne-Sofie Vibæk Eisum, Chiara Marini-Bettolo, Aida Alejaldre-Monforte, María Asunción Martín, Roberto Fernández-Torrón, Giorgio Tasca, Montse Olivé, Maria Teresa Gómez, Juan J. Vílchez, Jorge Diaz-Jara, Carmen Paradas, Jordi Díaz-Manera, Julio Pardo, Alicia Alonso-Jimenez, Roberto García-Figueiras, Solange Kapetanovic, Jorge A. Bevilacqua, Pia Gallano, Freja Fornander, Isabel Illa, Enzo Ricci, Luis Querol, Matteo Garibaldi, A. Martinez, Rosemarie H M J M Kroon, L. Gonzalez, Enric Verges-Gil, Ricardo Rojas-García, Mauro Monforte, Robert Carlier, Cristina Dominguez Gonzalez, John Vissing, C. Márquez, Elena Cortés-Vicente, Nuria Muelas, Volker Straub, Gerardo Gutiérrez Gutiérrez, Tania García-Sobrino

Publikováno v: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Journal of Neurology, Neurosurgery, and Psychiatry, 90, 5, pp. 576-585
Journal of Neurology, Neurosurgery, and Psychiatry, 90, 576-585
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol

Background and objectiveOculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within thePABPN1gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127fd13e6cfe4d542d273efad3e81657
http://hdl.handle.net/10807/132054