Delays in pulmonary decline in eteplirsen-treated patients with Duchenne muscular dystrophy.

Autor: Iff J; Sarepta Therapeutics, Inc, Cambridge, Massachusetts, USA., Gerrits C; Sarepta Therapeutics, Inc, Cambridge, Massachusetts, USA., Zhong Y; Analysis Group, Inc, Menlo Park, California, USA., Tuttle E; Analysis Group, Inc, Menlo Park, California, USA., Birk E; Analysis Group, Inc, Menlo Park, California, USA., Zheng Y; Analysis Group, Inc, Menlo Park, California, USA., Paul X; Analysis Group, Inc, Menlo Park, California, USA., Henricson EK; University of California Davis Medical Center, Sacramento, California, USA., McDonald CM; University of California Davis Medical Center, Sacramento, California, USA.

Publikováno v: Muscle & nerve [Muscle Nerve] 2022 Sep; Vol. 66 (3), pp. 262-269. Date of Electronic Publication: 2022 Jul 08.

Gait Characterization in Duchenne Muscular Dystrophy (DMD) Using a Single-Sensor Accelerometer: Classical Machine Learning and Deep Learning Approaches.

Autor: Ramli AA; Department of Computer Science, School of Engineering, University of California, Davis, CA 95616, USA., Liu X; Department of Computer Science, School of Engineering, University of California, Davis, CA 95616, USA., Berndt K; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Goude E; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Hou J; Department of Electrical and Computer Engineering, School of Engineering, University of Waterloo, Waterloo, ON N2L 3G1, Canada., Kaethler LB; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Liu R; Department of Computer Science, School of Engineering, University of California, Davis, CA 95616, USA., Lopez A; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Nicorici A; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Owens C; UC Davis Center for Health and Technology, University of California, Davis, CA 95616, USA., Rodriguez D; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Wang J; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Zhang H; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Aranki D; Berkeley School of Information, University of California Berkeley, Berkeley, CA 94720, USA., McDonald CM; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Henricson EK; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.; Graduate Group in Computer Science (GGCS), University of California, Davis, CA 95616, USA.

Publikováno v: Sensors (Basel, Switzerland) [Sensors (Basel)] 2024 Feb 08; Vol. 24 (4). Date of Electronic Publication: 2024 Feb 08.

Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

Autor: Mercuri E, Muntoni F, Nascimento-Osorio A, Tulinius M, Buccella F, Morgenroth LP, Gordish-Dressman H, Jiang J, Trifillis P, Zhu J, Kristensen A, Santos CL, Henricson EK, McDonald CM, Desguerre I, STRIDE, CINRG Duchenne Natural History Investigators

Publikováno v: JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0bc7bf17213bd8d1ad8856dbc9b18d17
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17321

Longitudinal changes in cardiac function in Duchenne muscular dystrophy population as measured by magnetic resonance imaging.

Autor: Batra A; Department of Physical Therapy, University of Florida, Gainesville, FL, 32610, USA., Barnard AM; Department of Physical Therapy, University of Florida, Gainesville, FL, 32610, USA., Lott DJ; Department of Physical Therapy, University of Florida, Gainesville, FL, 32610, USA., Willcocks RJ; Department of Physical Therapy, University of Florida, Gainesville, FL, 32610, USA., Forbes SC; Department of Physical Therapy, University of Florida, Gainesville, FL, 32610, USA., Chakraborty S; Department of Statistics, University of Florida, Gainesville, FL, 32610, USA., Daniels MJ; Department of Statistics, University of Florida, Gainesville, FL, 32610, USA., Arbogast J; Department of Physiology and Functional Genomics, University of Florida, 1600 SW Archer RD, M552, P.O. Box 1002754, Gainesville, FL, 32610, USA., Triplett W; Department of Physical Therapy, University of Florida, Gainesville, FL, 32610, USA., Henricson EK; Department of Physical Medicine and Rehabilitation, University of California, Davis, Sacramento, CA, 95817, USA., Dayan JG; Department of Pediatrics, UC Davis, Sacramento, CA, 85817, USA., Schmalfuss C; Department of Medicine, Cardiology, University of Florida, Gainesville, FL, 32610, USA., Sweeney L; Department of Pharmacology and Therapeutics, University of Florida, Gainesville, FL, 32610, USA., Byrne BJ; Department of Pediatrics, University of Florida, Gainesville, FL, 32610, USA., McDonald CM; Department of Physical Medicine and Rehabilitation, University of California, Davis, Sacramento, CA, 95817, USA., Vandenborne K; Department of Physical Therapy, University of Florida, Gainesville, FL, 32610, USA., Walter GA; Department of Physiology and Functional Genomics, University of Florida, 1600 SW Archer RD, M552, P.O. Box 1002754, Gainesville, FL, 32610, USA. glennw@ufl.edu.

Publikováno v: BMC cardiovascular disorders [BMC Cardiovasc Disord] 2022 Jun 09; Vol. 22 (1), pp. 260. Date of Electronic Publication: 2022 Jun 09.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Autor: Guglieri M; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, England., Bushby K; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, England., McDermott MP; Department of Neurology, University of Rochester Medical Center, Rochester, New York.; Department of Biostatistics and Computational Biology, University of Rochester Medical Center, Rochester, New York., Hart KA; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Martens WB; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Herr BE; Department of Neurology, University of Rochester Medical Center, Rochester, New York., McColl E; Newcastle University, Newcastle upon Tyne, England., Speed C; Newcastle University, Newcastle upon Tyne, England.; NIHR Clinical Research Network North East and North Cumbria, Newcastle upon Tyne, England., Wilkinson J; Newcastle University, Newcastle upon Tyne, England., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, University Hospital Freiburg, Freiburg, Germany.; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany., King WM; Ohio State University, Columbus., Eagle M; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, England., Brown MW; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Willis T; Robert Jones and Agnes Hunt Orthopaedic Hospital, NHS Foundation Trust, Oswestry, England., Griggs RC; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, England., van Ruiten H; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, England., Childs AM; Leeds General Infirmary, Leeds, England., Ciafaloni E; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Shieh PB; David Geffen School of Medicine, University of California, Los Angeles., Spinty S; Alderhey Children's Hospital NHS Foundation Trust, Liverpool, England., Maggi L; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Baranello G; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Dubowitz Neuromuscular Centre, UCL NIHR GOSH Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, England., Butterfield RJ; Department of Pediatric Neurology, University of Utah, Salt Lake City., Horrocks IA; Glasgow Paediatric Neuromuscular Research Centre, Greater Glasgow and Clyde NHS Yorkhill Hospital, Glasgow, Scotland., Roper H; University Hospitals Birmingham NHS Foundation Trust, Birmingham, England., Alhaswani Z; University Hospitals Birmingham NHS Foundation Trust, Birmingham, England., Flanigan KM; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio., Kuntz NL; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois., Manzur A; Great Ormond Street Hospital, London, England., Darras BT; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts., Kang PB; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis., Morrison L; Health Sciences Center, University of New Mexico, Albuquerque., Krzesniak-Swinarska M; Health Sciences Center, University of New Mexico, Albuquerque., Mah JK; Cumming School of Medicine, University of Calgary and Alberta Children's Hospital Research Institute, Calgary, Canada., Mongini TE; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Turin, Italy., Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Turin, Italy., von der Hagen M; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Finkel RS; Nemours Children's Hospital, Orlando, Florida.; Center for Experimental Neurotherapeutics, St Jude Children's Research Hospital, Memphis, Tennessee., O'Reardon K; Nemours Children's Hospital, Orlando, Florida., Wicklund M; Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.; Department of Neurology, School of Medicine, University of Colorado, Aurora., Kumar A; Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania., McDonald CM; Department of Physical Medicine and Rehabilitation and Department of Pediatrics, University of California-Davis, Sacramento., Han JJ; Department of Physical Medicine and Rehabilitation and Department of Pediatrics, University of California-Davis, Sacramento., Joyce N; Department of Physical Medicine and Rehabilitation and Department of Pediatrics, University of California-Davis, Sacramento., Henricson EK; Department of Physical Medicine and Rehabilitation and Department of Pediatrics, University of California-Davis, Sacramento., Schara-Schmidt U; Clinic for Pediatrics I, Pediatric Neurology, University Hospital Essen, Essen, Germany., Gangfuss A; Clinic for Pediatrics I, Pediatric Neurology, University Hospital Essen, Essen, Germany., Wilichowski E; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany., Barohn RJ; University of Missouri, Columbia., Statland JM; University of Kansas Medical Center, Kansas City., Campbell C; Departments of Pediatrics, Clinical Neurological Sciences, and Epidemiology, University of Western Ontario, London, Canada., Vita G; ERN Neuromuscular Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Vita GL; Unit of Neurology, IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy., Howard JF Jr; School of Medicine, University of North Carolina, Chapel Hill., Hughes I; Royal Manchester Children's Hospital, Manchester, England., McMillan HJ; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Pegoraro E; ERN Neuromuscular Unit, Department of Neuroscience, University of Padova, Padua, Italy., Bello L; ERN Neuromuscular Unit, Department of Neuroscience, University of Padova, Padua, Italy., Burnette WB; Vanderbilt University Medical Center, Nashville, Tennessee., Thangarajh M; Department of Neurology, Virginia Commonwealth University, Richmond., Chang T; Children's National Hospital, George Washington University, Washington, DC.

Publikováno v: JAMA [JAMA] 2022 Apr 19; Vol. 327 (15), pp. 1456-1468.