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Resultats globals: 6 registres trobats en 0.03 segons.
Articles, 4 registres trobats
Documents de recerca, 2 registres trobats
Articles 4 registres trobats  
1.
13 p, 749.5 KB Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain / Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ; Rodriguez, Maria José (Institut d'Investigació Biomèdica Sant Pau) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ; Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Nascimento, A. (Institut de Recerca Sant Joan de Déu) ; Ortez González, Carlos Ignacio (Institut de Recerca Sant Joan de Déu) ; Natera-De Benito, D. (Institut de Recerca Sant Joan de Déu) ; Olive, Montse (Hospital Universitari de Bellvitge) ; Gonzalez-Mera, L. (Hospital de Viladecans) ; de Munain, A.L. (UPV-EHU) ; Zulaica, Miren (Instituto de Salud Carlos III) ; Poza, J.J. (Hospital de Donostia (Sant Sebastià, País Basc)) ; Jerico, I. (Complejo Hospitalario de Navarra) ; Torne, L. (Instituto de Investigación Sanitaria de Navarra) ; Riera, Pau (Institut d'Investigació Biomèdica Sant Pau) ; Milisenda, José César (Hospital Clínic i Provincial de Barcelona) ; Sanchez, Aurora (Hospital Clínic i Provincial de Barcelona) ; Garrabou, Gloria (Hospital Clínic i Provincial de Barcelona) ; Llano, I. (Osakidetza Basque Health Service) ; Madruga-Garrido, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, the clinical, pathological, and genetic heterogeneity, the absence of an established genotype-phenotype correlation, and the exceptionally large size of some causative genes such as TTN, NEB and RYR1. [...]
2020 - 10.3390/genes11050539
Genes, Vol. 11 Núm. 5 (may 2020) , p. 539  
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2.
12 p, 2.7 MB Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale / Jacobs, M.B. (Pediatrics. Epidemiology. and Biostatistics. George Washington University) ; James, Meredith K (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ; Lowes, Linda P (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Alfano, Lindsay N (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Eagle, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ; Muni Lofra, R. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ; Moore, U. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ; Feng, J. (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ; Rufibach, L.E. (The Jain Foundation) ; Rose, K. (The Children's Hospital at Westmead. The University of Sydney) ; Duong, T. (Lucile Salter Packard Children's Hospital at Stanford) ; Bello, Luca (Department of Neuroscience. University of Padova) ; Pedrosa-Hernández, Irene (Institut d'Investigació Biomèdica Sant Pau) ; Holsten, Scott (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ; Sakamoto, C. (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ; Canal, Aurélie (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ; Sanchez-Aguilera Práxedes, N. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Thiele, S. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich) ; Siener, C. (Department of Neurology Washington University School of Medicine) ; Vandevelde, B. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ; DeWolf, Brittney (Cooperative International Neuromuscular Research Group (CINRG). Children's National Health System) ; Maron, E. (ELAN-PHYSIO. Praxis für Physiotherapie Maron) ; Guglieri, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ; Hogrel, J.Y. (Institut de Myologie (París, França)) ; Blamire, Andrew (Magnetic Resonance Centre. Institute for Cellular Medicine. Newcastle University) ; Carlier, Pierre G (AIM & CEA NMR Laboratory. Institute of Myology. Pitié-Salpêtrière University Hospital) ; Spuler, S. (Charite Muscle Research Unit. Experimental and Clinical Research Center. a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ; Day, John W (Department of Neurology and Neurological Sciences. Stanford University School of Medicine) ; Jones, K.J. (The Children's Hospital at Westmead. The University of Sydney) ; Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Salort-Campana, E. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ; Pestronk, Alan (Washington University School of Medicine) ; Walter, Maggie C (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich) ; Paradas, C. (Instituto de Biomedicina de Sevilla) ; Stojkovic, T. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ; Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ; Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Pegoraro, Elena (University of Padova) ; Mendell, J. R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Mayhew, A.G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ; Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Objective: Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. [...]
2021 - 10.1002/ana.26044
Annals of neurology, Vol. 89 Núm. 5 (may 2021) , p. 967-978  
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3.
12 p, 18.3 MB RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells : implications for Duchenne muscular dystrophy / Fernández Simón, Esther (University of Newcastle) ; Suarez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ; Carrasco-Rozas, Ana (Institut d'Investigació Biomèdica Sant Pau) ; Piñol-Jurado, Patricia (University of Newcastle) ; López-Fernández, Susana (Institut d'Investigació Biomèdica Sant Pau) ; Pons, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Bech-Serra, Joan-Josep (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; De La Torre Gómez, Gisela Carolina (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau) ; Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Diaz-Manera, Jordi (University of Newcastle) ; Universitat Autònoma de Barcelona
The lack of dystrophin expression in Duchenne muscular dystrophy (DMD) induces muscle fibre and replacement by fibro-adipose tissue. Although the role of some growth factors in the process of fibrogenesis has been studied, pathways activated by PDGF-AA have not been described so far. [...]
2022 - 10.1002/jcsm.12923
Journal of Cachexia, Sarcopenia and Muscle, Vol. 13 (february 2022) , p. 1373-1384  
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4.
11 p, 1.0 MB Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy / Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ; Gonzalez-Quereda, L (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Bruno, Claudio (Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini) ; Panicucci, Chiara (Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini) ; Alavi, Afagh (Genetics Research Center, University of Social Welfare and Rehabilitation Sciences) ; Nafissi, Shahriar (Department of Neurology, Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences) ; Nilipour, Yalda (Shahid Beheshti University of Medical Sciences) ; Zanoteli, Edmar (Faculdade de Medicina da Universidade de São Paulo) ; Isihi, Lucas Michielon de Augusto (Faculdade de Medicina da Universidade de São Paulo) ; Melegh, Béla (University of Pecs) ; Hadzsiev, Kinga (University of Pecs) ; Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ; Vílchez, Juan J. (Instituto de Investigación Sanitaria La Fe) ; Dourado, Mario Emilio (Federal University of Rio Grande do Norte) ; Kadem, Naz (University of Health Sciences, Antalya Research and Training Hospital) ; Kutluk, Gultekin (University of Health Sciences, Antalya Research and Training Hospital) ; Umair, Muhammad (University of Management and Technology (UMT)) ; Younus, Muhammad (Peking University) ; Pegorano, Elena (University of Padova) ; Bello, Luca (University of Padova) ; Crawford, Thomas O. (Johns Hopkins University) ; Suárez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ; Töpf, Ana (Newcastle University) ; Guglieri, Michela (Newcastle University) ; Marini-Bettolo, Chiara (Newcastle University and Newcastle Hospitals) ; Gallano, Pia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Straub, Volker (Newcastle University) ; Diaz-Manera, Jordi (Newcastle University) ; Universitat Autònoma de Barcelona
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. [...]
2021 - 10.1093/brain/awab301
Brain, Vol. 145 (september 2021) , p. 596-606  
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Documents de recerca 2 registres trobats  
1.
163 p, 8.9 MB Aplicación de técnicas de resonancia magnética muscular en el diagnóstico y seguimiento de enfermedades neuromusculares / Alonso-Jiménez, Alicia ; Diaz-Manera, Jordi, dir. ; Illa Sendra, Isabel, dir.
La ressonància magnètica (RM) s'ha establert com una eina útil a l'estudi de les malalties neuromusculars. Dins les miopaties hereditàries formen un grup heterogeni que tenen en comú l'origen genètic. [...]
La resonancia magnética (RM) se ha establecido como una herramienta útil en el estudio de las enfermedades neuromusculares. Dentro de ellas, las miopatías hereditarias forman un grupo heterogéneo que tienen en común el origen genético. [...]
Magnetic resonance imaging (MRI) has been established recently as a useful tool for the study of patients with neuromuscular disorders. Among these diseases, hereditary myopathies form a heterogenous group which are genetic in nature. [...]
2022  
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2.
1 p, 604.3 KB Transposable elements and their involvement in several human muscular dystrophies / Velasco Galilea, María ; García Guerreiro, María Pilar, dir. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Universitat Autònoma de Barcelona. Facultat de Biociències
2014
Grau en Genètica [833]  
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