المؤلفون: Georgia Stimpson, Mary Chesshyre, Giovanni Baranello, Francesco Muntoni

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: spinal muscular atrophy, duchenne and becker muscular dystrophy, translational research, trial design, inclusion criteria, matching criteria, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.759994/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/3eef4adc91d2442cbee9b941935f8fa9Test

المؤلفون: Sonia Messina, Claudio Bruno, E. Mazzone, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Gianluca Vita, Francesco Muntoni, Marika Pane, Tiziana Mongini, Giovanni Baranello, Erik H. Niks, Mary Chesshyre, Francesca Magri, Volker Straub, Enrico Bertini, Elena Pegoraro, Luca Bello, Alice Donati, Silvana De Lucia, Stefano C. Previtali, Valeria Ricotti, Adele D'Amico, Jean-Yves Hogrel, Nathalie Goemans, Roberta Battini, Giacomo P. Comi, Laurent Servais, Giorgia Coratti, Federica Ricci, Imelda J. M. de Groot, Luisa Politano, Angela Berardinelli

المصدر: PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)

مصطلحات موضوعية: Male, Heredity, Genetic Linkage, Epidemiology, Physiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Exon, 0302 clinical medicine, Medical Conditions, Medicine and Health Sciences, 030212 general & internal medicine, Muscular Dystrophy, Longitudinal Studies, Child, Baseline values, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Organic Compounds, Men, Exons, Multidisciplinary Sciences, Chemistry, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Medicine, Science & Technology - Other Topics, Steroids, exon skipping, Research Article, medicine.medical_specialty, Science, Natural history of disease, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Genetics, Humans, Clinical Genetics, Science & Technology, business.industry, Biological Locomotion, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Human Genetics, medicine.disease, Duchenne, Human genetics, Exon skipping, Follow-Up Studies, Muscular Dystrophy, Duchenne, Mutation, Clinical trial, Natural History of Disease, Medical Risk Factors, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7Test
http://hdl.handle.net/1887/3249481Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/figure/Mean_NSAA_changes_in_the_subgroups_amenable_to_skip_exons_44_45_51_and_53_according_to_age_/14848560Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.g001Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/dataset/Details_of_the_NSAA_in_the_study_cohort_subdivided_by_TRF_at_baseline_6_or_6_years_/14848572Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.t002Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/dataset/Details_of_the_NSAA_in_the_study_cohort_and_subdivided_by_age_at_baseline_7_or_7_years_/14848569Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.t001Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/figure/Individual_NSAA_trajectories_with_details_of_the_mutations_within_skipping_subgroups_/14848566Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.g002Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/dataset/Baseline_12-_24-_36-month_NSAA_values_range_mean_and_median_subdivided_according_to_genotype_and_age_/14848575Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.t003Test