Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Autor: Claudia Brogna, Giorgia Coratti, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group

Publikováno v: PLoS ONE, Vol 14, Iss 6, p e0218683 (2019)

IntroductionThe aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.Materials and methodsOf the

Externí odkaz: https://doaj.org/article/3932d113fabe49fdac298f216fdc150a

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.

Autor: Coratti G; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Pane M; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Brogna C; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Ricotti V; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom., Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Nemo SUD Clinical Centre, University Hospital 'G. Martino', Messina, Italy., D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy., Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Vita G; Nemo SUD Clinical Centre, University Hospital 'G. Martino', Messina, Italy., Berardinelli A; IRCCS Mondino Foundation, Pavia, Italy., Mazzone E; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy., Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy., Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Bello L; Department of Neurosciences, University of Padua, Padua, Italy., Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy., Baranello G; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Previtali SC; Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy., Politano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy., Comi GP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, ASST Niguarda Hospital, University of Milan, Milan, Italy., Donati A; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy., Hogrel JY; Institute I-Motion, Hôpital Armand Trousseau, Institute of Myology, Paris, France., Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., De Lucia S; Institute I-Motion, Hôpital Armand Trousseau, Institute of Myology, Paris, France., Niks E; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Servais L; Centre de Référence Des Maladies Neuromusculaires, CHU de Liège, Liège, Belgium.; Department of Paediatrics, MDUK Neuromuscular Center, University of Oxford, Oxford, United Kingdom., De Groot I; Department of Rehabilitation, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Chesshyre M; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom., Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy., Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium., Muntoni F; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom., Mercuri E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Publikováno v: PloS one [PLoS One] 2021 Jun 25; Vol. 16 (6), pp. e0253882. Date of Electronic Publication: 2021 Jun 25 (Print Publication: 2021).

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Autor: Brogna C, Coratt G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E

Publikováno v: PloS one [PLoS One] 2019 Jul 31; Vol. 14 (7), pp. e0220714. Date of Electronic Publication: 2019 Jul 31 (Print Publication: 2019).

The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.

Autor: Scaglioni, Dominic^1,2 (AUTHOR), Catapano, Francesco^1,2,3 (AUTHOR), Ellis, Matthew^4,5 (AUTHOR), Torelli, Silvia^1,2 (AUTHOR), Chambers, Darren³ (AUTHOR), Feng, Lucy³ (AUTHOR), Beck, Matthew^1,2 (AUTHOR), Sewry, Caroline^3,6 (AUTHOR), Monforte, Mauro⁷ (AUTHOR), Harriman, Shawn⁸ (AUTHOR), Koenig, Erica⁸ (AUTHOR), Malhotra, Jyoti⁸ (AUTHOR), Popplewell, Linda⁹ (AUTHOR), Guglieri, Michela¹⁰ (AUTHOR), Straub, Volker¹⁰ (AUTHOR), Mercuri, Eugenio⁷ (AUTHOR), Servais, Laurent^11,12 (AUTHOR), Phadke, Rahul³ (AUTHOR), Morgan, Jennifer^1,2 (AUTHOR), Muntoni, Francesco^1,2 (AUTHOR) f.muntoni@ucl.ac.uk

Publikováno v: Acta Neuropathologica Communications. 1/6/2021, Vol. 9 Issue 1, p1-17. 17p.

Long-term Observation in Patients with Duchenne Muscular Dystrophy with Early Introduction of a Standing Program Using Knee–ankle–foot Orthoses.

Autor: Akiko Fujimoto, Katsuhiro Mizuno, Yasuyuki Iwata, Hiroyuki Yajima, Daisuke Nishida, Hirofumi Komaki, Akihiko Ishiyama, Madoka Mori-Yoshimura, Hisateru Tachimori, Yoko Kobayashi

Publikováno v: Progress in Rehabilitation Medicine; 2023, Vol. 8, p1-15, 15p