Results overview: Found 8 records in 0.03 seconds.
Articles, 8 records found
Articles 8 records found  
1.
14 p, 8.0 MB Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy / Reyngoudt, Harmen (NMR Laboratory) ; Smith, Fiona Elizabeth (Newcastle University) ; Caldas de A. Araújo, Ericky (NMR Laboratory) ; Wilson, Ian (Newcastle University) ; Fernandez-Torron, Roberto (Hospital Universitario de Donostia) ; James, Meredith K. (Newcastle University) ; Moore, Ursula (Newcastle University) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Marty, Benjamin (NMR Laboratory) ; Azzabou, Noura (NMR Laboratory) ; Gordish-Dressman, Heather (George Washington University) ; Rufibach, Laura E. (The JAIN Foundation) ; Hodgson, Tim (Newcastle University) ; Wallace, Dorothy (Newcastle University) ; Ward, Louise (Newcastle University) ; Boisserie, Jean Marc (NMR Laboratory) ; Le Louër, Julien (NMR Laboratory) ; Hilsden, Heather (Newcastle University) ; Sutherland, Helen (Newcastle University) ; Canal, Aurélie (Institute of Myology) ; Hogrel, J.Y (Institut de Myologie (París, França)) ; Jacobs, Marni (George Washington University) ; Stojkovic, Tanya (Institut deMyologie (París, França)) ; Bushby, Kate (Newcastle University) ; Mayhew, Anna G. (Newcastle University) ; Straub, Volker (Newcastle University) ; Carlier, Pierre G. (University Paris-Saclay) ; Blamire, Andrew (Newcastle University) ; Universitat Autònoma de Barcelona
Natural history studies in neuromuscular disorders are vital to understand the disease evolution and to find sensitive outcome measures. We performed a longitudinal assessment of quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (P MRS) outcome measures and evaluated their relationship with function in lower limb skeletal muscle of dysferlinopathy patients. [...]
2022 - 10.1002/jcsm.12987
Journal of Cachexia, Sarcopenia and Muscle, Vol. 13 Núm. 3 (june 2022) , p. 1850-1863  
2.
10 p, 1.4 MB Cardiac and pulmonary findings in dysferlinopathy : A 3-year, longitudinal study / Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Jacobs, Marni (Pediatrics. Epidemiology and Biostatistics. George Washington University) ; Gordish-Dressman, Heather (Pediatrics. Epidemiology and Biostatistics. George Washington University) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; James, Meredith K (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Harris, Elizabeth (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Guglieri, Michela (Newcastle University) ; Rufibach, Laura E. (The Jain Foundation) ; Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ; Blamire, Andrew (Translational and Clinical Research Institute. Newcastle University) ; Carlier, Pierre G. (University Paris-Saclay. CEA. DRF. Service Hospitalier Frederic Joliot) ; Spuler, Simone (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 (Stanford University School of Medicine) ; Jones, Kristi J. (The Children's Hospital at Westmead. and The University of Sydney) ; Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Salort-Campana, Emmanuelle (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, Carmen (Instituto de Biomedicina de Sevilla) ; Stojkovic, Tanya (Sorbonne Université) ; Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ; Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ; Pegoraro, Elena (Department of Neuroscience. University of Padova) ; Lowes, Linda Pax (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Mendell, Jerery R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Bourke, John (Department of Cardiology. Freeman Hospital. NUTH NHS Hospitals Foundation Trust) ; Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Introduction/Aims: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype. [...]
2022 - 10.1002/mus.27524
Muscle & nerve, Vol. 65 Núm. 5 (may 2022) , p. 531-540  
3.
10 p, 585.1 KB Water T2 could predict functional decline in patients with dysferlinopathy / Moore, Ursula. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Caldas de A. Araújo, Ericky (NMR Laboratory. CEA/DRF/IBFJ/MIRCen) ; Reyngoudt, Harmen (NMR Laboratory. CEA/DRF/IBFJ/MIRCen) ; Gordish-Dressman, Heather (Pediatrics. Epidemiology and Biostatistics. George Washington University) ; Smith, Fiona E. (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ; Wilson, Ian (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ; James, Meredith (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Mayhew, Anna (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Rufibach, Laura (Jain Foundation) ; Day, John W. (Department of Neurology and Neurological Sciences. Stanford University School of Medicine) ; Jones, Kristi J. (The Children's Hospital at Westmead and The University of Sydney) ; Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Salort-Campana, Emmanuelle (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, Carmen (Instituto de Biomedicina de Sevilla) ; Stojkovic, Tanya (Centre de référence des maladies neuromusculaires. Institut de Myologie. AP-HP. Sorbonne Université. Hôpital Pitié-Salpêtrière) ; Mori-Yoshimura, Madoka (Department of Neurology. National Center Hospital. National Center of Neurology and Psychiatry) ; Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ; Pegoraro, Elena (Department of Neuroscience. University of Padova) ; Mendell, Jerry R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Blamire, Andrew (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ; Straub, Volker (Newcastle University) ; Carlier, Pierre G. (Université Paris-Saclay. CEA. DRF. Service Hospitalier Frederic Joliot) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Background: Water T2 (T2) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials. Here, we investigated the prognostic utility of T2 to identify changes in muscle function over time in limb girdle muscular dystrophies. [...]
2022 - 10.1002/jcsm.13063
Journal of Cachexia, Sarcopenia and Muscle, Vol. 13 Núm. 6 (december 2022) , p. 2888-2897  
4.
16 p, 4.6 MB Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease / Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Gordish-Dressman, Heather (George Washington University) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; James, Meredith K. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Guglieri, Michela (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Fernandez-Torron, Roberto (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Rufibach, Laura E. (The Jain Foundation) ; Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ; Blamire, Andrew (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ; Carlier, Pierre G. (AIM & CEA NMR Laboratory. Institute of Myology. Pitié-Salpêtrière University Hospital) ; Spuler, Simone (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 (Stanford University School of Medicine) ; Jones, Kristi J. (The Children's Hospital at Westmead. and The University of Sydney) ; Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Salort-Campana, Emmanuelle (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, Carmen (Instituto de Biomedicina de Sevilla) ; Stojkovic, Tanya (Sorbonne Université) ; Mori-Yoshimura, Madoka (Department of Neurology. National Center Hospital. National Center of Neurology and Psychiatry) ; Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ; Pegoraro, Elena (University of Padova) ; Lowes, Linda P (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Mendell, Jerry R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). [...]
2021 - 10.1016/j.nmd.2021.01.009
Neuromuscular Disorders, Vol. 31 Núm. 4 (april 2021) , p. 265-280  
5.
9 p, 1.7 MB Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy / 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)  
6.
11 p, 3.9 MB Muscle MRI in patients with dysferlinopathy : pattern recognition and implications for clinical trials / 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  
7.
16 p, 3.4 MB AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders / Salpietro, Vincenzo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Dixon, Christine L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Guo, Hui (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bello, Oscar D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ; Efthymiou, Stephanie (University College London) ; Maroofian, Reza (UCL Queen Square Institute of Neurology (Regne Unit)) ; Heimer, Gali (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Burglen, Lydie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ; Valence, Stephanie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ; Torti, Erin (GeneDx) ; Hacke, Moritz (Biochemistry Center. Heidelberg University) ; Rankin, Julia (Royal Devon and Exeter NHS Foundation Trust) ; Tariq, Huma (UCL Queen Square Institute of Neurology (Regne Unit)) ; Colin, Estelle (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Procaccio, Vincent (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Striano, Pasquale (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Mankad, Kshitij (Great Ormond Street Hospital for Children (Londres)) ; Lieb, Andreas (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Chen, Sharon (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Pisani, Laura (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Bettencourt, Conceição (UCL Institute of Neurology (Regne Unit)) ; Männikkö, Roope (UCL Queen Square Institute of Neurology (Regne Unit)) ; Manole, Andreea (UCL Queen Square Institute of Neurology (Regne Unit)) ; Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Grosso, Enrico (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Ferrero, Giovanni Battista (Department of Public Health and Pediatrics. University of Torino) ; Armstrong, Judith (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Gueden, Sophie (Unit of Neuropediatrics. University Hospital) ; Bar-Yosef, Omer (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Tzadok, Michal (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Monaghan, Kristin G. (GeneDx) ; Santiago-Sim, Teresa (GeneDx) ; Person, Richard E. (GeneDx) ; Cho, Megan T. (GeneDx) ; Willaert, Rebecca (GeneDx) ; Yoo, Kristin (Department of Biomedical Sciences. Seoul National University) ; Chae, Jong-Hee (Department of Pediatrics. Seoul National University) ; Quan, Yingting (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wu, Huidan (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wang, Tianyun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bernier, Raphael A. (Department of Psychiatry. University of Washington) ; Xia, Kun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Blesson, Alyssa (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Jain, Mahim (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Motazacker, Mohammad M. (Department of Clinical Genetics. University of Amsterdam) ; Jaeger, Bregje (Department of Pediatric Neurology. Amsterdam UMC) ; Schneider, Amy L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Boysen, Katja (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Muir, Alison M. (Department of Pediatrics. University of Washington) ; Myers, Candance T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ; Gavrilova, Ralitza H. (Department of Clinical Genomics. Mayo Clinic) ; Gunderson, Lauren (Department of Clinical Genomics. Mayo Clinic) ; Schultz-Rogers, Laura (Department of Clinical Genomics. Mayo Clinic) ; Klee, Eric W. (Department of Clinical Genomics. Mayo Clinic) ; Dyment, David (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ; Osmond, Matthew (Genome Québec Innovation Center) ; Parellada, Mara (Hospital General Universitario Gregorio Marañón) ; Llorente, Cloe (Hospital General Universitario Gregorio Marañón) ; González-Peñas, Javier (Hospital General Universitario Gregorio Marañón) ; Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ; Van Haeringen, Arie (Department of Clinical Genetics. Leiden University Medical Center) ; Ruivenkamp, Claudia (Department of Clinical Genetics. Leiden University Medical Center) ; Nava, Caroline (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Heron, Delphine (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Nardello, Rosaria (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ; Iacomino, Michele (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Minetti, Carlo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Skabar, Aldo (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Fabretto, Antonella (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Hanna, Michael (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bugiardini, Enrico (UCL Queen Square Institute of Neurology (Regne Unit)) ; Hostettler, Isabel Charlotte (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Callaghan, Benjamin (UCL Queen Square Institute of Neurology (Regne Unit)) ; Khan, Alaa (UCL Queen Square Institute of Neurology (Regne Unit)) ; Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Connor, Emer (UCL Queen Square Institute of Neurology (Regne Unit)) ; Yau, Wai Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bourinaris, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ; Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ; Madej, Monika (UCL Queen Square Institute of Neurology (Regne Unit)) ; Diana, Maria C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Vari, Maria S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Pedemonte, Marina (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Bruno, Claudio (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Balagura, Ganna (University of Genoa. Department of Neurosciences) ; Scala, Marcello (University of Genoa. Department of Neurosciences) ; Fiorillo, Chiara (University of Genoa. Department of Neurosciences) ; Nobili, Lino (University of Genoa. Department of Neurosciences) ; Malintan, Nancy T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Zanetti, Maria N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Krishnakumar, Shyam S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Lignani, Gabriele (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Jepson, James E. C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Broda, Paolo (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Baldassari, Simona (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Rossi, Pia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Fruscione, Floriana (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Madia, Francesca (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Traverso, Monica (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; De-Marco, Patrizia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ; Kriouile, Yamna (Children's Hospital of Rabat. University of Rabat) ; El-Khorassani, Mohamed (Children's Hospital of Rabat. University of Rabat) ; Karashova, Blagovesta (Department of Paediatrics. Medical University of Sofia) ; Avdjieva, Daniela (Department of Paediatrics. Medical University of Sofia) ; Kathom, Hadil (Department of Paediatrics. Medical University of Sofia) ; Tincheva, Radka (Department of Paediatrics. Medical University of Sofia) ; Van-Maldergem, Lionel (Centre of Human Genetics. University Hospital Liege) ; Nachbauer, Wolfgang (Department of Neurology. Medical University Innsbruck) ; Boesch, Sylvia (Department of Neurology. Medical University Innsbruck) ; Gagliano, Antonella (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ; Amadori, Elisabetta (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ; Goraya, Jatinder S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ; Sultan, Tipu (Department of Paediatric Neurology. Children's Hospital of Lahore) ; Kirmani, Salman (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ; Ibrahim, Shahnaz (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Jan, Farida (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Mine, Jun (Department of Pediatrics. Shimane University School of Medicine) ; Banu, Selina (Institute of Child Health and Shishu Shastho Foundation Hospital) ; Veggiotti, Pierangelo (Vittore Buzzi Children's Hospital) ; Zuccotti, Gian V. (Vittore Buzzi Children's Hospital) ; Ferrari, Michel D.. (Leiden University Medical Center) ; Van Den Maagdenberg, Arn M. J. (Leiden University Medical Center) ; Verrotti, Alberto (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ; Marseglia, Gian Luigi (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Savasta, Salvatore (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Soler, Miguel A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ; Scuderi, Carmela (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Borgione, Eugenia (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Chimenz, Roberto (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Gitto, Eloisa (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Dipasquale, Valeria (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Sallemi, Alessia (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Fusco, Monica (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cuppari, Caterina (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cutrupi, Maria C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Ruggieri, Martino (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ; Cama, Armando (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Capra, Valeria (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Mencacci, Niccolò Emanuele (Department of Neurology. Northwestern University Feinberg School of Medicine) ; Boles, Richard (Courtagen Life Sciences) ; Gupta, Neerja (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Kabra, Madhulika (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Papacostas, Savvas (The Cyprus Institute of Neurology and Genetics) ; Zamba-Papanicolaou, Eleni (The Cyprus Institute of Neurology and Genetics) ; Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ; Maqbool, Shazia (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ; Rana, Nuzhat (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ; Atawneh, Osama (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ; Lim, Shen Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ; Shaikh, Mohmad Farooq (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ; Koutsis, George (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Breza, Marianthi (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Coviello, Domenico (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ; Dauvilliers, Yves (University Hospital of Montpellier (França)) ; AlKhawaja, Issam (Albashir University Hospital) ; AlKhawaja, Mariam (Prince Hamzah Hospital. Ministry of Health) ; Al-Mutairi, Fuad (King Saud University) ; Stojkovic, Tanya (Institute of Myology. Hôpital La Pitié Salpêtrière) ; Ferrucci, Veronica (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Zollo, Massimo (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Alkuraya, Fowzan S (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Kinali, Maria (The Portland Hospital) ; Sherifa, Hamed (Assiut University Hospital) ; Benrhouma, Hanene (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Turki, Ilhem B. Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Tazir, Meriem (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ; Obeid, Makram (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ; Bakhtadze, Sophia (Department of Child Neurology. Tbilisi State Medical University) ; Saadi, Marianthi W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ; Zaki, Maha (Human Genetics and Genome Research Division. National Research Centre) ; Triki, Chahnez C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ; Benfenati, Fabio (Istituto Italiano di Tecnologia) ; Gustincich, Stefano (Istituto Italiano di Tecnologia) ; Kara, Majdi (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ; Belcastro, Vincenzo (Neurology Unit. S. Anna Hospital) ; Specchio, Nicola (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Capovilla, Giuseppe (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ; Karimiani, Ehsan G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ; Salih, Ahmed M. (Medical University of Duhok) ; Okubadejo, Njideka (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Ojo, Oluwadamilola (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oshinaike, Olajumoke O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oguntunde, Olapeju (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Wahab, Kolawole Wasiu (University of Ilorin Teaching Hospital (UITH)) ; Bello, Abiodun H. (University of Ilorin Teaching Hospital (UITH)) ; Abubakar, Sanni (Ahmadu Bello University) ; Obiabo, Yahaya (Delta State University Teaching Hospital) ; Nwazor, Ernest (Federal Medical Centre) ; Ekenze, Oluchi (University of Nigeria Teaching Hospital) ; Williams, Uduak (University of Calabar Teaching Hospital) ; Iyagba, Alagoma (University of Port Harcourt Teaching Hospital) ; Taiwo, Lolade (Babcock University. Ilishan. Remo & Federal Medical Centre) ; Komolafe, Morenikeji (Obafemi Awolowo University Teaching Hospital (OAUTH)) ; Senkevich, Konstantin (Pavlov First Saint Petersburg State Medical University) ; Shashkin, Chingiz (Kazakh National State University) ; Zharkynbekova, Nazira (Shymkent Medical Academy) ; Koneyev, Kairgali (Kazakh National State University) ; Manizha, Ganieva (Avicenna Tajik State Medical University) ; Isrofilov, Maksud (Avicenna Tajik State Medical University) ; Guliyeva, Ulviyya (Mediclub clinic) ; Salayev, Kamran (Azerbaijan State Medical University) ; Khachatryan, Samson G. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ; Rossi, Salvatore (Department of Neurology. Università Cattolica del Sacro Cuore) ; Silvestri, Gabriella (Department of Neurology. Università Cattolica del Sacro Cuore) ; Haridy, Nourelhoda A. (Department of Neurology and Psychiatry. Assuit University Hospital) ; Ramenghi, Luca A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ; Xiromerisiou, Georgia (Department of Neurology. Medical School. University of Thessaly) ; David, Emanuele (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ; Aguennouz, M'hammed (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ; Fidani, Lliana (Department of Biology. Medical School. Aristotle University) ; Spanaki, Cleanthe (Department of Neurology. Medical School. University of Crete) ; Tucci, Arianna (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ; Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ; Chez, Michael (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ; Tsai, Anne (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ; Fassi, Emily (Department of Pediatrics. Washington University School of Medicine) ; Shinawi, Marwan (Department of Pediatrics. Washington University School of Medicine) ; Constantino, John N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ; De Zorzi, Rita (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Kok, Fernando (Mendelics Genomic Analysis) ; Keren, Boris (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Bonneau, Dominique (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Choi, Murim (Department of Biomedical Sciences. Seoul National University) ; Benzeev, Bruria (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Zara, Federico (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Mefford, Heather C. (Department of Pediatrics. University of Washington) ; Scheffer, Ingrid E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Clayton-Smith, Jill (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Rothman, James E. (Department of Cell Biology. Yale University School of Medicine) ; Eichler, Evan E (Howard Hughes Medical Institute. University of Washington) ; Kullmann, Dimitri M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Houlden, Henry (UCL Queen Square Institute of Neurology (Regne Unit)) ; Universitat Autònoma de Barcelona
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. [...]
2019 - 10.1038/s41467-019-10910-w
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3094  
8.
14 p, 396.7 KB Assessment of disease progression in dysferlinopathy : A 1-year cohort study / 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  

See also: similar author names
3 Stojkovic, T.
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