Paper Review Records
All Paper Review Records
5 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
79
days
RYR1-related diseases patient-led international research workshop: Novel perspectives, treatments and interventions
Authors
Pomi Yun; Lourdes Figueroa; Chang Seok Lee; Filip Van Petegem; Nicol C. Voermans; Robert T. Dirksen; Michael F. Goldberg; Līvija Medne; Jinson Paul; Mairéad Ryan; Emily Pedersen; Johanna Lanner; Payam MohasselShow moreShow less
Affiliations
1. Department of Neurology, 1500Johns Hopkins University School of Medicine, Baltimore, MD, USA; 2. Department of Physiology and Biophysics, 2468Rush University Medical Center, Chicago, IL, USA; 3. Department of Integrative Physiology, 3989Baylor College of Medicine, Houston, TX, USA; 4. Department of Biochemistry and Molecular Biology, the Life Sciences Centre, 8166University of British Columbia, Vancouver, BC, Canada; 5. Department of Neurology, Donders Institute for Brain, Cognition and Behavior, 6034Radboud University Medical Center, Nijmegen, the Netherlands; 6. Department of Pharmacology and Physiology, 6923University of Rochester Medical Center, Rochester, NY, USA; 7. The RYR-1 Foundation, Pittsburgh, PA, USA; 8. Department of Neuroradiology, 6596Allegheny Health Network, Pittsburgh, PA, USA; 9. Division of Human Genetics, 6567Children’s Hospital of Philadelphia, Philadelphia, PA, USA; 10. Department of Physiology and Pharmacology, 27106Karolinska Institutet, Stockholm, SwedenShow moreShow less
317
days
Machine learning predicts treatment response to nusinersen in non-sitter spinal muscular atrophy (SMA)
Authors
Georgia Stimpson; Emer O’Reilly; Giorgia Coratti; Deborah Ridout; Tapabrata Chakraborti; Robin Mitra; Roberto de Sanctis; Marika Pane; Mariacristina Scoto; Eugenio Mercuri; Francesco Muntoni; Giovanni Baranello; The International SMA ConsortiumShow moreShow less
Affiliations
1. Dubowitz Neuromuscular Centre, 11700UCL Great Ormond Street Institute of Child Health, London, UK; 2. Health and Medical Science Programme, 522468The Alan Turing Institute, London, UK; 3. NIHR Great Ormond Street Hospital Biomedical Research Centre, 11700UCL Great Ormond Street Institute of Child Health, London, UK; 4. Paediatric Neurology Unit, Catholic University, Rome, Italy; 5. Centro Clinico Nemo, 18654U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; 6. Population, Policy & Practice Department, UCL Great Ormond Street Institute of Child Health, London, UK; 7. UCL Cancer Institute and Dept of Medical Physics & Biomedical Engineering, UCL, London, UK; 8. Department of Statistical Science, UCLShow moreShow less
329
days
Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy
Authors
Markéta Kumhera; Eva Vrsčaj; Tanja Loboda; Damjan Osredkar; Petra Holotová; Marie Rohlenová; Barbora Lauerová; Vanesa Jurášová; Jitka Hanzalová; Markéta Pavlíková; Jana HaberlováShow moreShow less
Affiliations
1. Department of Pediatric Neurology, Second Faculty of Medicine, 48359Charles University and Motol and Homolka University Hospital, Prague, Czech Republic; 2. Department of Pediatric Neurology, University Children’s Hospital, 37667University Medical Centre Ljubljana, Slovenia; 3. Center for Developmental Neuroscience, Medical Faculty, University of Ljubljana, Ljubljana, Slovenia; 4. Department of Neurology, Second Faculty of Medicine, 48359Charles University and Motol and Homolka University Hospital, Prague, Czech Republic; 5. Department of Immunology, Second Faculty of Medicine, 48359Charles University and Motol and Homolka University Hospital, Prague, Czech RepublicShow moreShow less
221
days
An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participation
Authors
Lizan Stinissen; Sanne A.J.H. van de Camp; Brentney Simon; Lindsay Goldberg; Baziel G.M. van Engelen; Kirsten E. Bevelander; Wija Oortwijn; Nicol C. Voermans; on behalf of RYR1-RD patient survey study groupShow moreShow less
Affiliations
1. Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; 2. 503226The RYR-1 Foundation, Pittsburgh, PA, USA; 3. Research Institute for Medical Innovation, Primary and Community Care, Radboud University Medical Center, Nijmegen, The Netherlands; 4. Research Institute for Medical Innovation, Science department IQ Health, Radboud University Medical Center, Nijmegen, The NetherlandsShow moreShow less
208
days
Functional assessments used in routine care for duchenne muscular dystrophy in the United States: A survey of certified duchenne care centers
Authors
Ruthwik Duvuru; Eric Camino; Rachel Schrader; Megan Freed; James Signorovitch; Jia Zhong; Shimin Bi; Susan J. Ward; Aravindhan VeerapandiyanShow moreShow less
Affiliations
1. Division of Neurology, Department of Pediatrics, 14423Arkansas Children’s Hospital, Little Rock, AR, USA; 2. 460757Parent Project Muscular Dystrophy, Washington, DC, USA; 3. 382641Analysis Group Inc ., Boston, MA, USA; 4. Collaborative Trajectory Analysis Project, Cambridge, MA, USAShow moreShow less
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