Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Rocio Nur Villar Quiles"'
Autor:
Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz‐Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas E. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 686-695 (2023)
Abstract Valosin‐containing protein (VCP)‐associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety
Externí odkaz:
https://doaj.org/article/a319ff4d3dcf4e0d84c1086d8301b2c9
Autor:
Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patie
Externí odkaz:
https://doaj.org/article/1f852d93563d40c5ad7e18eea6212e9c
Autor:
Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz‐Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas E. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis
Publikováno v:
Annals of Clinical and Translational Neurology. 10:686-695
Autor:
Edouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, Céline Tard, Maud Michaud, Rocio Nur Villar Quiles, Savine Vicart, Marion Masingue, Robert‐Yves Carlier, Norma Beatriz Romero, Emmanuelle Lacene, France Leturcq, Bruno Eymard, Pascal Laforêt, Tanya Stojkovic
Publikováno v:
European Journal of Neurology.
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 6039 (2021)
Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent identification of mutations in the TRIP4 and ASCC1 genes, encoding, respectively, ASC-1 and A
Externí odkaz:
https://doaj.org/article/0d8f42d286184d7fbe20cba28bfa6053
Autor:
Ersilia Varone, Diego Pozzer, Simona Di Modica, Alexander Chernorudskiy, Leonardo Nogara, Martina Baraldo, Mario Cinquanta, Stefano Fumagalli, Rocio Nur Villar-Quiles, Maria-Grazia De Simoni, Bert Blaauw, Ana Ferreiro, Ester Zito
Publikováno v:
Redox Biology, Vol 24, Iss , Pp - (2019)
Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of function leads to a congenital myopathy associated with insulin resistance (SEPN1-related myopathy). The exact cause of the insulin resistance in patients with SELENON l
Externí odkaz:
https://doaj.org/article/73fb0f5074fc465186227627ec912a26
Autor:
Rocio Nur Villar Quiles, Jebrane Bouaoud, Jean Philippe Foy, Anthony Behin, Tan Mai Nguyen, Marion Masingue, Miguel Iniesto, Tanya Stojkovic, Ahmed Idbaih
Background: The acquisition of practical skills is one of the main objectives of medical education. Multimedia learning tools have proven to be effective and attractive in the field of medical education and video tools can contribute to the learning
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::935bf98db06e27dc859c5a19a71c535d
https://doi.org/10.21203/rs.3.rs-2662697/v1
https://doi.org/10.21203/rs.3.rs-2662697/v1
Autor:
Tanya Stojkovic, Marion Masingue, Corinne Métay, Norma B. Romero, Bruno Eymard, Rabah Ben Yaou, Laetitia Rialland, Séverine Drunat, Corine Gartioux, Isabelle Nelson, Valérie Allamand, Gisèle Bonne, Rocio Nur Villar-Quiles
Publikováno v:
Journal of neuromuscular diseases.
We report three siblings from a non-consanguineous family presenting with contractural limb-girdle phenotype with intrafamilial variability. Muscle MRI showed posterior thigh and quadriceps involvement with a sandwich-like sign. Whole-exome sequencin
Autor:
Ulises Gomez-Pinedo, Rocio Nur Villar-Quiles, Lucia Galan, Jordi A. Matias-Guiu, Maria Soledad Benito-Martin, Antonio Guerrero-Sola, Teresa Moreno-Ramos, Jorge Matias-Guiu
Publikováno v:
Frontiers in Neurology, Vol 7 (2016)
Background: Several findings suggest that the amyloid precursor protein (APP) and the amyloid cascade may play a role in motor neuron disease (MND).Objective: Considering that dementia is one of the most frequently non-motor symptoms in ALS and that
Externí odkaz:
https://doaj.org/article/a23a8eaf705c4210bedaaf92339bafc9
Publikováno v:
Medecine sciences : M/S.
JAG2 has recently been involved in autosomal recessive forms of muscular dystrophy as illustrated in this clinical vignette. In many ways, this disease can mimick a COL6-related retractile myopathy including at the imaging level.