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11.
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13 p, 1.8 MB |
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
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Domínguez-González, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Badosa, Carmen (Institut de Recerca Sant Joan de Déu) ;
Madruga-Garrido, Marcos (Universidad de Sevilla) ;
Martí, Itxaso (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Paradas, Carmen (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ortez González, Carlos Ignacio (Institut de Recerca Sant Joan de Déu) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Berardo, Andres (Columbia University Medical Center) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Trifunov, Selena (Institut de Recerca Sant Joan de Déu) ;
Cuadras, Daniel (Fundació Privada per a la Recerca i Docència Sant Joan de Déu) ;
Kalko, Susana G. (Moebius Research Ltd, London, UK) ;
Blázquez-Bermejo, Cora (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Mavillard, Fabiola (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Martin, Miguel A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Montoya, Julio (Universidad de Zaragoza) ;
Ruiz-Pesini, Eduardo (Universidad de Zaragoza) ;
Villarroya, Joan (Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición) ;
Montero, Raquel (Institut de Recerca Sant Joan de Déu) ;
Villarroya, Francesc (Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición) ;
Artuch, R. (Institut de Recerca Sant Joan de Déu) ;
Hirano, Michio (Columbia University Medical Center) ;
Nascimento, Andrés (Institut de Recerca Sant Joan de Déu) ;
Jiménez Mallebrera, Cecilia (Universitat de Barcelona) ;
Universitat Autònoma de Barcelona
GDF-15 is a biomarker for mitochondrial diseases. We investigated the application of GDF-15 as biomarker of disease severity and response to deoxynucleoside treatment in patients with thymidine kinase 2 (TK2) deficiency and compared it to FGF-21. [...]
2020 -  10.1038/s41598-020-66940-8
Scientific reports, Vol. 10 (june 2020)
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12.
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9 p, 1.7 MB |
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
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Moore, Ursula (Newcastle University) ;
Jacobs, Marni (George Washington University) ;
Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
LLauger Rossello, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
Smith, Fiona E. (Newcastle University) ;
James, Meredith K (Newcastle University) ;
Mayhew, Anna (Newcastle University) ;
Rufibach, Laura (Jain Foundation) ;
Carlier, Pierre G. (Université Paris-Saclay) ;
Blamire, Andrew (Newcastle University) ;
Day, John W. (Stanford University) ;
Jones, Kristi J. (The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, Emmanuelle (Hôpital de La Timone) ;
Pestronk, Alan (Washington University) ;
Walter, Maggie C. (Ludwig-Maximilians-University of Munich) ;
Paradas, Carmen (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Stojkovic, Tanya (Sorbonne Université) ;
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ;
Bravver, Elena (Carolinas Neuromuscular/ALS-MDA Center) ;
Pegoraro, Elena (University of Padova) ;
Mendell, Jerry R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Bushby, Kate (Newcastle University) ;
Straub, Volker (Newcastle University) ;
Diaz-Manera, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we investigated the effect of exercise on the degree of muscle fatty replacement measured using muscle MRI. [...]
2020 - 10.3389/fneur.2020.613446
Frontiers in neurology, Vol. 11 (december 2020)
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13.
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11 p, 3.9 MB |
Muscle MRI in patients with dysferlinopathy : pattern recognition and implications for clinical trials
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Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Fernandez-Torron, Roberto (MRC Centre for Neuromuscular Diseases) ;
LLauger, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
James, Meredith K. (MRC Centre for Neuromuscular Diseases) ;
Mayhew, Anna (MRC Centre for Neuromuscular Diseases) ;
Smith, Fiona E. (Newcastle University) ;
Moore, Ursula R. (MRC Centre for Neuromuscular Diseases) ;
Blamire, Andrew (Newcastle University) ;
Carlier, Pierre G. (Pitié-Salpêtrière University Hospital) ;
Rufibach, Laura (The Jain Foundation) ;
Mittal, Plavi (The Jain Foundation) ;
Eagle, Michelle (MRC Centre for Neuromuscular Diseases) ;
Jacobs, Marni (George Washington University) ;
Hodgson, Tim (Newcastle University) ;
Wallace, Dorothy (Newcastle University) ;
Ward, Louise (Newcastle University) ;
Smith, Mark (Nationwide Children's Hospital) ;
Stramare, Roberto (University of Padova) ;
Rampado, Alessandro (University of Padova) ;
Sato, Noriko (National Center Hospital, National Center of Neurology and Psychiatry) ;
Tamaru, Takeshi (National Center Hospital, National Center of Neurology and Psychiatry) ;
Harwick, Bruce (CMC Mercy Charlotte, Carolinas Healthcare System Neurosciences Institute) ;
Rico Gala, Susana (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Turk, Suna (Pitié-Salpêtrière University Hospital) ;
Coppenrath, Eva M. (Ludwig-Maximilians-University) ;
Foster, Glenn (Washington University) ;
Bendahan, David (Aix-Marseille Université) ;
Le Fur, Yann (Aix-Marseille Université) ;
Fricke, Stanley T. (Children's National Health System) ;
Otero, Hansel (Children's National Health System) ;
Foster, Sheryl L. (University of Sydney) ;
Peduto, Anthony (University of Sydney) ;
Sawyer, Anne Marie (Stanford University School of Medicine) ;
Hilsden, Heather (MRC Centre for Neuromuscular Diseases) ;
Lochmuller, Hanns (MRC Centre for Neuromuscular Diseases) ;
Grieben, Ulrike (A Joint Co-operation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ;
Spuler, Simone (A Joint Co-operation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ;
Tesi Rocha, Carolina (Stanford University School of Medicine) ;
Day, John W. (Stanford University School of Medicine) ;
Jones, Kristi J. (Children's Hospital at Westmead, University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, Emmanuelle (La Timone Hospital, Aix-Marseille Université) ;
Harms, Matthew (Washington University School of Medicine) ;
Pestronk, Alan (Washington University School of Medicine) ;
Krause, Sabine (Ludwig-Maximilians-University of Munich) ;
Schreiber-Katz, Olivia (Ludwig-Maximilians-University of Munich) ;
Walter, Maggie C. (Ludwig-Maximilians-University of Munich) ;
Paradas, Carmen (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Hogrel, J.Y (AP-HP, G.H. Pitié-Salpêtrière) ;
Stojkovic, Tanya (AP-HP, G.H. Pitié-Salpêtrière) ;
Takeda, Shin'ichi (National Center Hospital, National Center of Neurology and Psychiatry) ;
Mori-Yoshimura, Madoka (National Center Hospital, National Center of Neurology and Psychiatry) ;
Bravver, Elena (Carolinas Healthcare System) ;
Sparks, Susan (Carolinas Healthcare System) ;
Bello, Luca (University of Padova) ;
Semplicini, Claudio (University of Padova) ;
Pegoraro, Elena (University of Padova) ;
Mendell, Jerry R. (Nationwide Children's Hospital) ;
Bushby, Kate (MRC Centre for Neuromuscular Diseases) ;
Straub, Volker (MRC Centre for Neuromuscular Diseases) ;
Universitat Autònoma de Barcelona
Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests. [...]
2018 - 10.1136/jnnp-2017-317488
Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 89 (may 2018) , p. 1071-1081
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14.
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10 p, 1.4 MB |
PDGF-BB serum levels are decreased in adult onset Pompe patients
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Fernández Simón, Esther (Institut d'Investigació Biomèdica Sant Pau) ;
Carrasco-Rozas, Ana (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Figueroa-Bonaparte, Sebastián (Institut d'Investigació Biomèdica Sant Pau) ;
Belmonte Jimeno, Izaskun (Institut d'Investigació Biomèdica Sant Pau) ;
Pedrosa, Irene (Institut d'Investigació Biomèdica Sant Pau) ;
Montiel Morillo, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Suárez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Nuñez Peralta, Claudia Alejandra (Institut d'Investigació Biomèdica Sant Pau) ;
Llauger, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
Mayos, Mercedes (Institut d'Investigació Biomèdica Sant Pau) ;
Illa, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Barba Romero, Miguel Ángel (Complejo Hospitalario Universitario de Albacete) ;
Barcena, Joseba (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Carzorla, María Rosario (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Creus, Carlota (Hospital Universitario Virgen de las Nieves (Granada)) ;
Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
de Luna Salva, Noemí (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Díaz, Manuel (Hospital Universitario de Cabueñes (Gijón)) ;
Domínguez-González, C (Hospital Universitario 12 de Octubre (Madrid)) ;
Fernandez-Torron, Roberto (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
García-Antelo, María José (Complejo Hospitalario Universitario de A Coruña) ;
Grau, Josep María (Hospital Clínic i Provincial de Barcelona) ;
Gómez-Caravaca, María Teresa (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
León-Hernández, Juan Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
López de Munáin, Adolfo (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Martínez-García, Francisco Antonio (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Morgado, Yolanda (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Moreno Camacho, Asunción (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Morís, Germán (Hospital Universitario Central de Asturias) ;
Muñoz-Blanco, Miguel Angel (Hospital General Universitario Gregorio Marañón) ;
Nascimento, Andres (Hospital Sant Joan de Déu (Manresa)) ;
Paradas, Carmen (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Parajuá-Pozo, José Luis (Hospital de Can Mises) ;
Querol, Luis (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Robledo-Strauss, Arturo (Hospital Juan Ramón Jiménez (Huelva)) ;
Rojas-Garcia, Ricard (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Rojas-Marcos, Íñigo (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Salazar, Jose Antonio (Hospital Regional Universitario de Málaga) ;
Usón, Mercedes (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ;
Diaz-Manera, Jordi. (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy with human recombinant alfa glucosidase. [...]
2019 - 10.1038/s41598-018-38025-0
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 2139
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15.
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14 p, 396.7 KB |
Assessment of disease progression in dysferlinopathy : A 1-year cohort study
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Moore, U. (Newcastle University) ;
Jacobs, Marni (George Washington University) ;
James, Meredith K (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Mayhew, Anna G. (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodolog) ;
Cnaan, Avital (GeorgeWashington University) ;
Eagle, Michelle (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Bettinson, Karen (Newcastle University) ;
Rufibach, Laura E. (Jain Foundation) ;
Lofra, Robert M. (Newcastle University) ;
Blamire, Andrew (Newcastle University) ;
Carlier, Pierre G. ;
Mittal, Plavi (Jain Foundation) ;
Lowes, Linda P. (The Ohio State University) ;
Alfano, Lindsay N (The Ohio State University) ;
Rose, Kristy (Institute for Neuroscience andMuscle Research. ChildrensHospital atWestmead. University of Sydney) ;
Duong, Tina (Lucile Salter Packard ChildrensHospital at Stanford) ;
Berry, Katherine M. (Research Institute at Nationwide Childrens Hospital. TheOhio State University) ;
Montiel Morillo, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Pedrosa-Hernández, Irene (Institut d'Investigació Biomèdica Sant Pau) ;
Holsten, Scott (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Sanjak, Mohammed (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Ashida, Ai (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Sakamoto, Chikako (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Tateishi, Takayuki (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Yajima, Hiroyuki (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Canal, Aurélie (Institut deMyologie (París, França)) ;
Ollivier, Gwenn (Institut deMyologie (París, França)) ;
Decostre, Valerie (Institut deMyologie (París, França)) ;
Mendez, Juan Bosco (Instituto de Biomedicina de Sevilla) ;
Praxedes, Nieves S. A. (Neurophysiotherapy Department. Hospital Universitario Virgen del Rocacute;io) ;
Thiele, Simone (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Siener, Catherine (Department of Neurology. Washington University School of Medicine) ;
Shierbecker, Jeanine (Department of Neurology. Washington University School of Medicine) ;
Florence, Julaine M. (Cooperative International Neuromuscular Research Group. Department of Neurology) ;
Vandevelde, Bruno (Centre de Reference des Maladies Neuromusculaires PACA Racute;eunion Rhone Alpes. Hopital de la Timone. Aix-Marseille Universitacute;e) ;
DeWolf, Brittney (Cooperative International Neuromuscular Research Group. Department of Neurology) ;
Hutchence, Meghan (Institute for Neuroscience andMuscle Research. ChildrensHospital atWestmead. University of Sydney) ;
Gee, Richard (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Prügel, Juliana (ELAN-PHYSIO. Praxis fur Physiotherapie Maron) ;
Maron, Elke (ELAN-PHYSIO. Praxis fur Physiotherapie Maron) ;
Hilsden, Heather (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Lochmüller, Hanns (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Grieben, Ulrike (ChariteMuscle Research Unit. Experimental and Clinical Research Center. A joint cooperation of the Charitacute;e Medical Faculty) ;
Spuler, Simone (ChariteMuscle Research Unit. Experimental and Clinical Research Center. A joint cooperation of the Charitacute;e Medical Faculty) ;
Rocha, Carolina T. (Department of Neurology and Neurological Sciences. Stanford University School ofMedicine) ;
Day, John W. (Department of Neurology and Neurological Sciences. Stanford University School ofMedicine) ;
Jones, Kristi J. (Institute for Neuroscience andMuscle Research. ChildrensHospital atWestmead. University of Sydney) ;
Bharucha-Goebel, Diana (NIH) ;
Salort-Campana, Emmanuelle (Centre de Reference des Maladies Neuromusculaires PACA Racute;eunion Rhone Alpes. Hopital de la Timone. Aix-Marseille Universitacute;e) ;
Harms, Matthew (Department of Neurology. Washington University School of Medicine) ;
Pestronk, Alan (Department of Neurology. Washington University School of Medicine) ;
Krause, Sabine (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Schreiber-Katz, Olivia (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Walter, Maggie C. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Paradas, Carmen (Instituto de Biomedicina de Sevilla) ;
Hogrel, J.Y (Institut de Myologie (París, França)) ;
Stojkovic, Tanya (Institut deMyologie (París, França)) ;
Takeda, Shin'ichi (DepartmentofNeurology. NationalCenterHospital. National Center ofNeurology and Psychiatry) ;
Mori-Yoshimura, Madoka (DepartmentofNeurology. NationalCenterHospital. National Center ofNeurology and Psychiatry) ;
Bravver, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Sparks, Susan (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi. (Institut d'Investigació Biomèdica Sant Pau) ;
Bello, Luca (Institut d'Investigació Biomèdica Sant Pau) ;
Semplicini, Claudio (Institut d'Investigació Biomèdica Sant Pau) ;
Pegoraro, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Mendell, Jerry R. (The Ohio State University. Research Institute at Nationwide Childrens Hospital) ;
Bushby, Kate (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Straub, Volker (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Universitat Autònoma de Barcelona
ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year. MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. [...]
2019 - 10.1212/WNL.0000000000006858
Neurology, Vol. 92 Núm. 5 (29 2019) , p. E461-E474
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16.
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21 p, 4.8 MB |
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
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Servián Morilla, Emilia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Takeuchi, Hideyuki (The University of Georgia) ;
Lee, Tom V. (Baylor College of Medicine) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Mavillard, Fabiola (Universidad de Sevilla) ;
Area Gómez, Estela (Columbia University Medical Center) ;
Rivas, Eloy (Universidad de Sevilla) ;
Nieto González, José L. (Universidad de Sevilla) ;
Rivero, María C. (Universidad de Sevilla) ;
Cabrera-Serrano, Macarena (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Gómez Sánchez, Leonardo (Universidad de Sevilla) ;
Martínez López, José A. (Universidad de Sevilla) ;
Estrada, Beatriz (Universidad Pablo de Olavide) ;
Márquez, Celedonio (Universidad de Sevilla) ;
Morgado, Yolanda (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Suarez-Calvet, Xavier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pita, Guillermo (Centro Nacional de Investigaciones Oncológicas) ;
Bigot, Anne (Sorbonne Universités) ;
Gallardo, Eduard (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Fernandez-Chacon, Rafael (Universidad de Sevilla) ;
Hirano, Michio (Columbia University Medical Center) ;
Haltiwanger, Robert S. (The University of Georgia) ;
Jafar-Nejad, Hamed (Baylor College of Medicine) ;
Paradas, Carmen (Columbia University Medical Center) ;
Universitat Autònoma de Barcelona
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb-girdle muscular dystrophy, we identified a missense mutation in 1 (protein O -glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. [...]
2016 - 10.15252/emmm.201505815
EMBO Molecular Medicine, Vol. 8, Issue 11 (November 2016) , p. 1289-1309
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