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Tytuł:
Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.
Autorzy:
Ayyar Gupta V; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.
Pitchforth JM; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.
Domingos J; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.
Ridout D; Population, Policy & Practice Research and Teaching Department, UCL Great Ormond Street (GOS) Institute of Child Health, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Iodice M; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.
Rye C; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.
Chesshyre M; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.
Wolfe A; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.
Selby V; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.
Mayhew A; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
Mazzone ES; Child Neurology Unite Centro Nemo, IRCCS Fondazione Policlinico Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy.
Ricotti V; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Hogrel JY; Institute of Myology, Paris, France.
Niks EH; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.; European Reference Network for Rare Neuromuscular Diseases - ERN EURO NMD.
de Groot I; Department of Rehabilitation, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
Servais L; Institute of Myology, Paris, France.; Division of Child Neurology, Reference Center for Neuromuscular Disease, Centre Hospitalier Régional de Références des Maladies Neuromusculaires, Department of Paediatrics, University Hospital Liège & University of La Citadelle, Liège, Belgium.; Department of Paediatrics, MDUK Neuromuscular Center, University of Oxford, Oxford, United Kingdom.
Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
Mercuri E; Child Neurology Unite Centro Nemo, IRCCS Fondazione Policlinico Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy.; Child Neurology Unit, Universita Cattolica del Sacro Cuore, Rome, Italy.
Manzur AY; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.
Muntoni F; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
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Corporate Authors:
iMDEX Consortium and the U.K. NorthStar Clinical Network
Źródło:
PloS one [PLoS One] 2023 Apr 26; Vol. 18 (4), pp. e0283669. Date of Electronic Publication: 2023 Apr 26 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophy, Duchenne*
Male ; Humans ; Minimal Clinically Important Difference ; Walking/physiology ; Physical Therapy Modalities ; Surveys and Questionnaires
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models.
Autorzy:
Saoudi A; Université Paris-Saclay, UVSQ, Inserm, END-ICAP, 78000 Versailles, France.; Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.
Fergus C; School of Biochemistry & Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, D02 R590 Dublin, Ireland.
Gileadi T; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.
Montanaro F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.
Morgan JE; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.
Kelly VP; School of Biochemistry & Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, D02 R590 Dublin, Ireland.
Tensorer T; SQY Therapeutics-Synthena, UVSQ, 78180 Montigny le Bretonneux, France.
Garcia L; Université Paris-Saclay, UVSQ, Inserm, END-ICAP, 78000 Versailles, France.
Vaillend C; Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.
Goyenvalle A; Université Paris-Saclay, UVSQ, Inserm, END-ICAP, 78000 Versailles, France.
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Źródło:
Cells [Cells] 2023 Mar 15; Vol. 12 (6). Date of Electronic Publication: 2023 Mar 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin*/genetics
Muscular Dystrophy, Duchenne*/therapy
Muscular Dystrophy, Duchenne*/drug therapy
Animals ; Mice ; Mice, Inbred mdx ; Exons/genetics ; Oligonucleotides, Antisense/therapeutic use ; Central Nervous System
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy.
Autorzy:
Sherlock SP; Pfizer Inc, Cambridge, MA, USA. .
Palmer J; Pfizer Inc, Cambridge, MA, USA.
Wagner KR; Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Abdel-Hamid HZ; Division of Child Neurology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA, USA.
Tian C; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; University of Cincinnati School of Medicine, Cincinnati, OH, USA.
Mah JK; Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Muntoni F; Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London, UK.
Guglieri M; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.
Butterfield RJ; University of Utah School of Medicine, Salt Lake City, UT, USA.
Charnas L; Pfizer Inc, Cambridge, MA, USA.
Marraffino S; Pfizer Inc, Cambridge, MA, USA.
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Źródło:
Scientific reports [Sci Rep] 2022 Nov 05; Vol. 12 (1), pp. 18762. Date of Electronic Publication: 2022 Nov 05.
Typ publikacji:
Randomized Controlled Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Dystrophy, Duchenne*/diagnostic imaging
Muscular Dystrophy, Duchenne*/drug therapy
Male ; Humans ; Absorptiometry, Photon ; Body Composition ; Biomarkers ; Disease Progression
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial.
Autorzy:
Muntoni F; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, United Kingdom.
Guglieri M; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
Mah JK; Cumming School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
Wagner KR; Center for Genetic Muscle Disorders, and Departments of Neurology and Neuroscience, Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.
Brandsema JF; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.
Butterfield RJ; University of Utah School of Medicine, Salt Lake City, Utah, United States of America.
McDonald CM; Lawson Health Research Institute, Children's Hospital, London, Ontario, Canada.
Mayhew AG; Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.
Palmer JP; Pfizer Inc, Cambridge, Massachusetts, United States of America.
Marraffino S; Pfizer Inc, Cambridge, Massachusetts, United States of America.
Charnas L; Pfizer Inc, Cambridge, Massachusetts, United States of America.
Mercuri E; Paediatric Neurology, Catholic University, and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
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Źródło:
PloS one [PLoS One] 2022 Aug 23; Vol. 17 (8), pp. e0272858. Date of Electronic Publication: 2022 Aug 23 (Print Publication: 2022).
Typ publikacji:
Clinical Trial, Phase II; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Dystrophy, Duchenne*
Humans ; Outcome Assessment, Health Care ; Physical Therapy Modalities
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Development of a novel startle response task in Duchenne muscular dystrophy.
Autorzy:
Maresh K; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; MRC Centre for Neuromuscular Diseases, UCL, London, United Kingdom.
Papageorgiou A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Ridout D; Department of Population, Policy & Practice, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, United Kingdom.
Harrison N; Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Mandy W; Department of Clinical, Educational and Health Psychology, UCL, London, United Kingdom.
Skuse D; Department of Behavioural and Brain Sciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; MRC Centre for Neuromuscular Diseases, UCL, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, United Kingdom.
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Źródło:
PloS one [PLoS One] 2022 Apr 19; Vol. 17 (4), pp. e0264091. Date of Electronic Publication: 2022 Apr 19 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin*
Muscular Dystrophy, Duchenne*
Animals ; Child ; Conditioning, Classical/physiology ; Humans ; Male ; Mice ; Reflex, Startle/physiology ; Reproducibility of Results
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications.
Autorzy:
Pini V; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK. .
Mariot V; Translational Myology Laboratory, Molecular Neurosciences Section, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.
Dumonceaux J; Translational Myology Laboratory, Molecular Neurosciences Section, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.
Counsell J; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.
O'Neill HC; Genome Editing and Reproductive Genetics Group, Institute for Women's Health, University College London, 86-96 Chenies Mews, London, WC1E 6HX, UK.
Farmer S; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.
Conti F; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.
Muntoni F; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK. f.muntoni@ucl.ac.uk.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK. f.muntoni@ucl.ac.uk.
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Źródło:
Scientific reports [Sci Rep] 2022 Mar 08; Vol. 12 (1), pp. 3756. Date of Electronic Publication: 2022 Mar 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
CRISPR-Cas Systems*/genetics
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/metabolism
Muscular Dystrophy, Duchenne*/therapy
Dystrophin/genetics ; Dystrophin/metabolism ; Endonucleases/genetics ; Gene Editing/methods ; Genetic Therapy/methods ; Humans ; Myoblasts/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Growth pattern trajectories in boys with Duchenne muscular dystrophy.
Autorzy:
Stimpson G; Developmental Neuroscience Research and Teaching Department, Faculty of Population Health Sciences, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Raquq S; Developmental Neuroscience Research and Teaching Department, Faculty of Population Health Sciences, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Chesshyre M; Developmental Neuroscience Research and Teaching Department, Faculty of Population Health Sciences, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Hospital NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
Fewtrell M; Population, Policy and Practice Department, Faculty of Population Health Sciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Ridout D; Population, Policy and Practice Department, Faculty of Population Health Sciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Hospital NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Hospital NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
Ayyar Gupta V; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.
De Amicis R; International Centre for the Assessment of Nutritional Status (ICANS), Department of Food, Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.
Muntoni F; Developmental Neuroscience Research and Teaching Department, Faculty of Population Health Sciences, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Hospital NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
Baranello G; Developmental Neuroscience Research and Teaching Department, Faculty of Population Health Sciences, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK. .; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Hospital NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. .
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Corporate Authors:
NorthStar Network
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jan 24; Vol. 17 (1), pp. 20. Date of Electronic Publication: 2022 Jan 24.
Typ publikacji:
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Dystrophy, Duchenne*/complications
Child ; Dystrophin/genetics ; Glucocorticoids/therapeutic use ; Humans ; Male ; Prednisolone ; Retrospective Studies ; Walking
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.
Autorzy:
Lilien C; Institut de Myologie, Paris, France.; Department of Paediatrics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, United Kingdom.
Reyngoudt H; Institut de Myologie, Paris, France.; CEA/DRF/IBFJ/MIRCen, Paris, France.
Seferian AM; Institut de Myologie, Paris, France.
Gidaro T; Institut de Myologie, Paris, France.
Annoussamy M; Institut de Myologie, Paris, France.; Sysnav, Vernon, France.
Chê V; Institut de Myologie, Paris, France.
Decostre V; Institut de Myologie, Paris, France.
Ledoux I; Institut de Myologie, Paris, France.
Le Louër J; Institut de Myologie, Paris, France.; CEA/DRF/IBFJ/MIRCen, Paris, France.
Guemas E; BIOSSEC, Paris, France.
Muntoni F; Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health, London, United Kingdom.; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Hogrel JY; Institut de Myologie, Paris, France.
Carlier PG; Institut de Myologie, Paris, France.; Université Paris-Saclay, CEA, DRF, Service Hospitalier Frederic Joliot, Orsay, France.
Servais L; Institut de Myologie, Paris, France.; Department of Paediatrics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, United Kingdom.; Division of Child Neurology Reference Center for Neuromuscular Disease, Centre Hospitalier Régional de Références des Maladies Neuromusculaires, Department of Paediatrics, University Hospital Liège & University of La Citadelle, Liège, Belgium.
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Corporate Authors:
PreU7 Study Group
Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 Oct; Vol. 8 (10), pp. 1938-1950. Date of Electronic Publication: 2021 Aug 28.
Typ publikacji:
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disease Progression*
Muscular Dystrophy, Duchenne*/diagnostic imaging
Muscular Dystrophy, Duchenne*/physiopathology
Upper Extremity*/diagnostic imaging
Upper Extremity*/physiopathology
Adiposity/*physiology
Hand Strength/*physiology
Adolescent ; Child ; Dystrophin/genetics ; Exons ; Genetic Therapy ; Humans ; Magnetic Resonance Imaging ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
Autorzy:
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.
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Corporate Authors:
on behalf on the International DMD Group and the iMDEX Consortium
Źródło:
PloS one [PLoS One] 2021 Jun 25; Vol. 16 (6), pp. e0253882. Date of Electronic Publication: 2021 Jun 25 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Mutation/*genetics
Child ; Disease Progression ; Exons/genetics ; Follow-Up Studies ; Humans ; Longitudinal Studies ; Male ; Men ; Muscular Dystrophy, Duchenne/pathology ; Severity of Illness Index ; Walking/physiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.
Autorzy:
Scaglioni D; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford St, London, WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Catapano F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford St, London, WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology and Great Ormond Street, London, UK.
Ellis M; Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology, London, UK.; School of Cancer Sciences, University of Southampton, Southampton, UK.
Torelli S; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford St, London, WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Chambers D; Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology and Great Ormond Street, London, UK.
Feng L; Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology and Great Ormond Street, London, UK.
Beck M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford St, London, WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Sewry C; Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology and Great Ormond Street, London, UK.; RJAH Orthopaedic Hospital NHS Trust, Oswestry, UK.
Monforte M; Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Harriman S; Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Koenig E; Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Malhotra J; Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Popplewell L; Centre of Gene and Cell Therapy and Centre for Biomedical Sciences, Royal Holloway, University of London, Egham, UK.
Guglieri M; Newcastle University John Walton Muscular Dystrophy Research Centre and the Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Straub V; Newcastle University John Walton Muscular Dystrophy Research Centre and the Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Mercuri E; Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Servais L; Institute I-Motion, Hôpital Armand-Trousseau, Paris, France.; Neuromuscular Reference Centre, CHU Liège, Liège, Belgium.
Phadke R; Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology and Great Ormond Street, London, UK.
Morgan J; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford St, London, WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford St, London, WC1N 1EH, UK. f.muntoni@ucl.ac.uk.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. f.muntoni@ucl.ac.uk.
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2021 Jan 06; Vol. 9 (1), pp. 7. Date of Electronic Publication: 2021 Jan 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Regeneration*
Dystrophin/*metabolism
Muscle, Skeletal/*pathology
Muscular Dystrophy, Duchenne/*therapy
Oligonucleotides/*therapeutic use
Oligonucleotides, Antisense/*therapeutic use
Biopsy ; Child ; Dystroglycans/metabolism ; Dystrophin/genetics ; Humans ; Laminin/metabolism ; Male ; Muscle, Skeletal/metabolism ; Muscular Dystrophy, Duchenne/metabolism ; Muscular Dystrophy, Duchenne/pathology ; Muscular Dystrophy, Duchenne/physiopathology ; Myosins/metabolism ; Sarcoglycans/metabolism ; Sarcolemma/metabolism ; Sarcolemma/pathology ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
RNA-targeted drugs for neuromuscular diseases.
Autorzy:
Ferlini A; Unit of Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy.; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Goyenvalle A; Université Paris-Saclay, UVSQ, Inserm, END-ICAP, Versailles, France.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, University College London, London, UK. f.muntoni@ucl.ac.uk.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
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Źródło:
Science (New York, N.Y.) [Science] 2021 Jan 01; Vol. 371 (6524), pp. 29-31.
Typ publikacji:
Journal Article
MeSH Terms:
Molecular Targeted Therapy*
Genetic Therapy/*methods
Morpholinos/*therapeutic use
Muscular Dystrophy, Duchenne/*therapy
Oligonucleotides, Antisense/*therapeutic use
RNA Precursors/*genetics
Dependovirus ; Dynamin II/genetics ; Exons ; Gene Transfer Techniques ; Humans ; RNA Stability
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet.
Autorzy:
Muntoni F; Dubowitz Neuromuscular Centre, University College London Institute of Child Health, London, UK.
Tejura B; Summit Therapeutics, Abingdon, UK.
Spinty S; Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Roper H; Birmingham Heartlands Hospital, Heart of England NHS Foundation Trust, Birmingham, UK.
Hughes I; Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK.
Layton G; ParamStat Limited, Ash, UK.
Davies KE; MRC Functional Genomics Unit, University of Oxford, Department of Physiology Anatomy and Genetics, Oxford, UK.
Harriman S; Summit Therapeutics, Abingdon, UK.
Tinsley J; Summit Therapeutics, Abingdon, UK.
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Źródło:
Clinical pharmacology in drug development [Clin Pharmacol Drug Dev] 2019 Oct; Vol. 8 (7), pp. 922-933. Date of Electronic Publication: 2019 Jan 16.
Typ publikacji:
Clinical Trial, Phase I; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Benzoxazoles/*administration & dosage
Benzoxazoles/*pharmacokinetics
Muscular Dystrophy, Duchenne/*drug therapy
Administration, Oral ; Adolescent ; Benzoxazoles/adverse effects ; Child ; Diet ; Double-Blind Method ; Drug Administration Schedule ; Humans ; Male ; Muscular Dystrophy, Duchenne/metabolism ; Suspensions ; Utrophin/antagonists & inhibitors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.
Autorzy:
Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom.; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Domingos J; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom.
Manzur AY; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom.
Mayhew A; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle, United Kingdom.
Guglieri M; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle, United Kingdom.
Sajeev G; Collaborative Trajectory Analysis Project, Cambridge, Massachusetts, United States of America.; Analysis Group Inc., Boston, Massachusetts, United States of America.
Signorovitch J; Collaborative Trajectory Analysis Project, Cambridge, Massachusetts, United States of America.; Analysis Group Inc., Boston, Massachusetts, United States of America.
Ward SJ; Collaborative Trajectory Analysis Project, Cambridge, Massachusetts, United States of America.
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Corporate Authors:
UK NorthStar Network
Źródło:
PloS one [PLoS One] 2019 Sep 03; Vol. 14 (9), pp. e0221097. Date of Electronic Publication: 2019 Sep 03 (Print Publication: 2019).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Phenotype*
Muscular Dystrophy, Duchenne/*diagnosis
Adolescent ; Biological Variation, Individual ; Child ; Child, Preschool ; Clinical Decision-Making ; Disease Progression ; Humans ; Infant ; Male ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/therapy ; Physical Therapists ; Physical Therapy Modalities ; Severity of Illness Index ; Symptom Assessment
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Autorzy:
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.
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; 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 Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
Vita G; Nemo SUD Clinical Centre, University Hospital 'G. Martino', Messina, Italy.
Berardinelli A; Child Neurology and Psychiatry Unit, ''Casimiro 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 Torino, Torino, Italy.
Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, 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; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Previtali SC; Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Politano L; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, 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, University of Milan, ASST Niguarda Hospital, Milan, Italy.
Donati A; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy.
Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy.
Muntoni F; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.
Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
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.
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Corporate Authors:
on behalf on the International DMD group
Źródło:
PloS one [PLoS One] 2019 Jun 25; Vol. 14 (6), pp. e0218683. Date of Electronic Publication: 2019 Jun 25 (Print Publication: 2019).
Typ publikacji:
Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Child ; Child, Preschool ; Cohort Studies ; Disease Progression ; Exons ; Humans ; Longitudinal Studies ; Male ; Muscular Dystrophy, Duchenne/physiopathology ; Muscular Dystrophy, Duchenne/therapy ; Prospective Studies ; Sequence Deletion ; Walking
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures.
Autorzy:
Hiller M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Falzarano MS; UOL of Medical Genetics, University of Ferrara, Ferrara, Italy.
Garcia-Jimenez I; Neuromuscular Disorders Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.
Sardone V; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Verheul RC; BioMarin Nederland B.V., Leiden, The Netherlands.
Popplewell L; Centre of Biomedical Sciences, School of Biological Sciences, Royal Holloway University of London, London, United Kingdom.
Anthony K; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.; Faculty of Health and Society, University of Northampton, Northampton, United Kingdom.
Ruiz-Del-Yerro E; Neuromuscular Disorders Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.
Osman H; UOL of Medical Genetics, University of Ferrara, Ferrara, Italy.
Goeman JJ; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands.
Mamchaoui K; INSERM, Institute of Myology, Center of Research in Myology, Sorbonne Universities, UPMC Univ Paris 6, Paris, France.
Dickson G; Centre of Biomedical Sciences, School of Biological Sciences, Royal Holloway University of London, London, United Kingdom.
Ferlini A; UOL of Medical Genetics, University of Ferrara, Ferrara, Italy.
Muntoni F; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.; MRC Centre for Neuromuscular Diseases, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Arechavala-Gomeza V; Neuromuscular Disorders Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.
Datson NA; BioMarin Nederland B.V., Leiden, The Netherlands.
Spitali P; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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Źródło:
PloS one [PLoS One] 2018 Oct 02; Vol. 13 (10), pp. e0204485. Date of Electronic Publication: 2018 Oct 02 (Print Publication: 2018).
Typ publikacji:
Comparative Study; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Oligonucleotides, Antisense*
RNA Splicing*
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Muscular Dystrophy, Duchenne/*metabolism
Polymerase Chain Reaction/*methods
Cell Line ; Dystrophin/metabolism ; Exons ; Humans ; Myoblasts/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.
Autorzy:
Sardone V; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Ellis M; Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, United Kingdom.
Torelli S; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Feng L; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London, United Kingdom.
Chambers D; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London, United Kingdom.
Eastwood D; Department of Orthopaedics, Great Ormond Street Hospital, London, United Kingdom.; The Royal National Orthopaedic Hospital, Stanmore, United Kingdom.
Sewry C; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom.
Phadke R; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London, United Kingdom.
Morgan JE; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Muntoni F; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
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Źródło:
PloS one [PLoS One] 2018 Mar 26; Vol. 13 (3), pp. e0194540. Date of Electronic Publication: 2018 Mar 26 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin/*metabolism
Fluorescent Antibody Technique/*methods
High-Throughput Screening Assays/*methods
Muscle Fibers, Skeletal/*metabolism
Muscular Dystrophy, Duchenne/*pathology
Adolescent ; Biopsy ; Child ; Child, Preschool ; Clinical Trials as Topic ; Dystrophin/genetics ; Fluorescent Antibody Technique/instrumentation ; Genetic Therapy/methods ; High-Throughput Screening Assays/instrumentation ; Humans ; Image Processing, Computer-Assisted/methods ; Laminin/metabolism ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/therapy ; Oligonucleotides, Antisense/genetics ; Sarcolemma/metabolism ; Software ; Spectrin/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials.
Autorzy:
Ricotti V; Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.
Evans MR; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Neuroradiological Academic Unit, UCL Institute of Neurology, London, United Kingdom.
Sinclair CD; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Neuroradiological Academic Unit, UCL Institute of Neurology, London, United Kingdom.
Butler JW; Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.
Ridout DA; Population, Policy and Practice Programme, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.
Hogrel JY; Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.
Emira A; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Neuroradiological Academic Unit, UCL Institute of Neurology, London, United Kingdom.
Morrow JM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
Janiczek RL; GlaxoSmithKline, London, United Kingdom.
Matthews PM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Division of Brain Sciences and Centre for Neurotechnology, Imperial College London, United Kingdom.
Yousry TA; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Neuroradiological Academic Unit, UCL Institute of Neurology, London, United Kingdom.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
Thornton JS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Neuroradiological Academic Unit, UCL Institute of Neurology, London, United Kingdom.
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Źródło:
PloS one [PLoS One] 2016 Sep 20; Vol. 11 (9), pp. e0162542. Date of Electronic Publication: 2016 Sep 20 (Print Publication: 2016).
Typ publikacji:
Journal Article
MeSH Terms:
Magnetic Resonance Imaging/*methods
Muscle, Skeletal/*diagnostic imaging
Muscular Dystrophy, Duchenne/*diagnostic imaging
Upper Extremity/*diagnostic imaging
Adolescent ; Child ; Fats/metabolism ; Forearm/diagnostic imaging ; Forearm/physiopathology ; Humans ; Longitudinal Studies ; Male ; Muscle Strength/physiology ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/physiopathology ; Muscular Dystrophy, Duchenne/drug therapy ; Muscular Dystrophy, Duchenne/physiopathology ; Time Factors ; Upper Extremity/physiopathology ; Water/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.
Autorzy:
Mercuri E; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
Coratti G; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
Messina S; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.
Ricotti V; Dubowitz Neuromuscular Centre, Institute of Child Health, University College, London, United Kingdom.
Baranello G; Developmental Neurology Unit, Istituto Neurologico 'Besta', Milan, Italy.
D'Amico A; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
Pera MC; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
Albamonte E; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
Sivo S; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
Mazzone ES; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
Arnoldi MT; Developmental Neurology Unit, Istituto Neurologico 'Besta', Milan, Italy.
Fanelli L; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
De Sanctis R; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
Romeo DM; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
Vita GL; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.
Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
Muntoni F; Dubowitz Neuromuscular Centre, Institute of Child Health, University College, London, United Kingdom.
Pane M; Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy.
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Źródło:
PloS one [PLoS One] 2016 Aug 05; Vol. 11 (8), pp. e0160195. Date of Electronic Publication: 2016 Aug 05 (Print Publication: 2016).
Typ publikacji:
Journal Article; Multicenter Study
MeSH Terms:
Exercise Test/*methods
Muscular Dystrophy, Duchenne/*physiopathology
Case-Control Studies ; Child Development/physiology ; Child, Preschool ; Humans ; Male ; Prospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy.
Autorzy:
Ricotti V; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, United Kingdom.
Spinty S; Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom.
Roper H; Birmingham Heartlands Hospital, Heart of England NHS Foundation Trust, Birmingham, United Kingdom.
Hughes I; Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, United Kingdom.
Tejura B; Summit Therapeutics, Abingdon, United Kingdom.
Robinson N; S.H.B. Enterprises Limited, Beaconsfield, United Kingdom.
Layton G; ParamStat Limited, Ash, United Kingdom.
Davies K; MRC Functional Genomics Unit, Department of Physiology Anatomy and Genetics, University of Oxford, United Kingdom.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, United Kingdom.
Tinsley J; Summit Therapeutics, Abingdon, United Kingdom.
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Źródło:
PloS one [PLoS One] 2016 Apr 07; Vol. 11 (4), pp. e0152840. Date of Electronic Publication: 2016 Apr 07 (Print Publication: 2016).
Typ publikacji:
Clinical Trial, Phase I; Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Benzoxazoles/*administration & dosage
Benzoxazoles/*pharmacokinetics
Muscular Dystrophy, Duchenne/*blood
Muscular Dystrophy, Duchenne/*drug therapy
Utrophin/*metabolism
Benzoxazoles/adverse effects ; Child ; Child, Preschool ; Humans ; Male ; Muscular Dystrophy, Duchenne/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.
Autorzy:
Janghra N; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Institute of Child Health, 30 Guilford Street, London, WC1N1EH, United Kingdom.
Morgan JE; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Institute of Child Health, 30 Guilford Street, London, WC1N1EH, United Kingdom.
Sewry CA; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Institute of Child Health, 30 Guilford Street, London, WC1N1EH, United Kingdom.
Wilson FX; Summit Therapeutics plc, 85b Park Drive, Milton Park, Abingdon, Oxfordshire, OX14 4RY, United Kingdom.
Davies KE; Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3PT, United Kingdom.
Muntoni F; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Institute of Child Health, 30 Guilford Street, London, WC1N1EH, United Kingdom.
Tinsley J; Summit Therapeutics plc, 85b Park Drive, Milton Park, Abingdon, Oxfordshire, OX14 4RY, United Kingdom.
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Źródło:
PloS one [PLoS One] 2016 Mar 14; Vol. 11 (3), pp. e0150818. Date of Electronic Publication: 2016 Mar 14 (Print Publication: 2016).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Regeneration*
Dystrophin/*metabolism
Muscle Fibers, Skeletal/*metabolism
Muscular Dystrophy, Duchenne/*metabolism
Utrophin/*metabolism
Animals ; Biopsy ; Child ; Child, Preschool ; Disease Models, Animal ; Female ; Humans ; Male ; Mice ; Mice, Inbred mdx ; Muscle Fibers, Skeletal/pathology ; Muscular Dystrophy, Duchenne/pathology
Czasopismo naukowe
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