المؤلفون: Francesco Muntoni, Giovanni Baranello, Pinki Munot, Mariacristina Scoto, Adnan Manzur, Marion Main, Evelin Milev, Lianne Abbott, Victoria Selby, Amy Wolfe, Annemarie Rohwer, Catherine Rye, Sarah Gregson, Grainne NicFhirleinn, Rosanna Raab, Heather McMurchie, Angela Topping, Faye Mason, Jennie Sheehan, Felicity Vann, Steph Wadsworth, José Longatto, Lindsey Pallant, Nick Emery, Jenny Moustoukas, Sarah D’Urso, Kay White, Efthymia Panagiotopoulou

المصدر: BMJ Open, Vol 15, Iss 1 (2025)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/15/1/e082240.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/bd7225f9e27e40aba6757f1dd71b87ad

المؤلفون: Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung‐Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 2, Pp 1360-1372 (2022)

مصطلحات موضوعية: Duchenne muscular dystrophy, Isoform, Motor function, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2190-5991; https://doaj.org/toc/2190-6009

URL الوصول: https://doaj.org/article/f0e9fb8a39b84e67b80fc0751fc0cab9

المؤلفون: Arpana Silwal, Anna Sarkozy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty, Matilde Henriques, Luigi D'Argenzio, Marion Main, Rachael Mein, Adnan Y Manzur, Francois Abel, Fouad Al‐Ghamdi, Casie A Genetti, Didem Ardicli, Goknur Haliloglu, Haluk Topaloglu, Alan H Beggs, Francesco Muntoni

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2288-2296 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/8caf97122a55476785146efefd7434e7

المؤلفون: Alberto A. Zambon, Deborah Ridout, Marion Main, Rachael Mein, Rahul Phadke, Francesco Muntoni, Anna Sarkozy

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1870-1882 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/46137d4153424242b92acc21bd1bbdd9

المؤلفون: Daniel Hind, James Parkin, Victoria Whitworth, Saleema Rex, Tracey Young, Lisa Hampson, Jennie Sheehan, Chin Maguire, Hannah Cantrill, Elaine Scott, Heather Epps, Marion Main, Michelle Geary, Heather McMurchie, Lindsey Pallant, Daniel Woods, Jennifer Freeman, Ellen Lee, Michelle Eagle, Tracey Willis, Francesco Muntoni, Peter Baxter

المصدر: Pilot and Feasibility Studies, Vol 3, Iss 1, Pp 1-17 (2017)

مصطلحات موضوعية: Duchenne muscular dystrophy, Aquatic therapy, Hydrotherapy, Physical therapy, Pilot study, Feasibility study, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40814-017-0132-0; https://doaj.org/toc/2055-5784

URL الوصول: https://doaj.org/article/698a9be3ca2e4952b63c456a96216698

المؤلفون: Jacqueline Montes, Michael P McDermott, Elizabeth Mirek, Elena S Mazzone, Marion Main, Allan M Glanzman, Tina Duong, Sally Dunaway Young, Rachel Salazar, Amy Pasternak, Richard Gee, Roberto De Sanctis, Giorgia Coratti, Nicola Forcina, Lavinia Fanelli, Danielle Ramsey, Evelin Milev, Matthew Civitello, Marika Pane, Maria Carmela Pera, Mariacristina Scoto, John W Day, Gihan Tennekoon, Richard S Finkel, Basil T Darras, Francesco Muntoni, Darryl C De Vivo, Eugenio Mercuri

المصدر: PLoS ONE, Vol 13, Iss 6, p e0199657 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC6019250?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/63a6b75ede644b2e906a74eef9e3db92

المؤلفون: Daniel Hind, James Parkin, Victoria Whitworth, Saleema Rex, Tracey Young, Lisa Hampson, Jennie Sheehan, Chin Maguire, Hannah Cantrill, Elaine Scott, Heather Epps, Marion Main, Michelle Geary, Heather McMurchie, Lindsey Pallant, Daniel Woods, Jennifer Freeman, Ellen Lee, Michelle Eagle, Tracey Willis, Francesco Muntoni, Peter Baxter

المصدر: Health Technology Assessment, Vol 21, Iss 27 (2017)

مصطلحات موضوعية: duchenne muscular dystrophy, aquatic therapy, hydrotherapy, physical therapy, pilot study, feasibility study, Medical technology, R855-855.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1366-5278; https://doaj.org/toc/2046-4924

URL الوصول: https://doaj.org/article/52b4151f179b40158809bae8c5ed0e17

المؤلفون: Danielle Ramsey, Mariacristina Scoto, Anna Mayhew, Marion Main, Elena S Mazzone, Jacqueline Montes, Roberto de Sanctis, Sally Dunaway Young, Rachel Salazar, Allan M Glanzman, Amy Pasternak, Janet Quigley, Elizabeth Mirek, Tina Duong, Richard Gee, Matthew Civitello, Gihan Tennekoon, Marika Pane, Maria Carmela Pera, Kate Bushby, John Day, Basil T Darras, Darryl De Vivo, Richard Finkel, Eugenio Mercuri, Francesco Muntoni

المصدر: PLoS ONE, Vol 12, Iss 2, p e0172346 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5319655?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/805f94649a6e43f7a62082820b419d03

المؤلفون: Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M. Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni

المصدر: Journal of Clinical Medicine; Volume 12; Issue 5; Pages: 1920

مصطلحات موضوعية: motor function, natural history, spinal muscular atrophy

وصف الملف: application/pdf

Relation: Clinical Neurology; https://dx.doi.org/10.3390/jcm12051920

الاتاحة: https://doi.org/10.3390/jcm12051920

المؤلفون: Amy Wolfe, Mariacristina Scoto, Francesco Muntoni, Robert Muni Lofra, Annemarie Rohwer, Ruth Wake, Evelin Milev, Chiara Marini-Bettolo, Lianne Abbott, Marion Main, Anna Mayhew, Giovanni Baranello

المصدر: Muscle & Nerve. 64:545-551

مصطلحات موضوعية: Vital capacity, Physiology, Population, Walking, Scoliosis, Spinal Muscular Atrophies of Childhood, Muscular Atrophy, Spinal, Upper Extremity, Cellular and Molecular Neuroscience, FEV1/FVC ratio, Physiology (medical), medicine, Humans, Respiratory function, Child, education, Retrospective Studies, education.field_of_study, business.industry, Spinal muscular atrophy, medicine.disease, SMA, medicine.anatomical_structure, Anesthesia, Upper limb, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::103885582ef01339e96be5f83fcbe4c4
https://doi.org/10.1002/mus.27404

المؤلفون: Federica Trucco, Tracey Davis, Renske I. Wadman, Lucia Schottlaender, Mariacristina Scoto, Chiara Brusa, Ramona De Amicis, Giovanni Baranello, Marion Main, Pinki Munot, Adnan Y. Manzur, Francesco Muntoni, Nadia Imbrigiotta, Anna Sarkozy, Simona Bertoli, Alberto Battezzati, Chiara Mastella

المصدر: Neuromuscular Disorders. 31:101-112

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Nutritional Status, Spinal Muscular Atrophies of Childhood, Nissen fundoplication, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Weight loss, Surveys and Questionnaires, medicine, Humans, Prospective Studies, Child, Genetics (clinical), Aged, Retrospective Studies, business.industry, Infant, Spinal muscular atrophy, Middle Aged, medicine.disease, Gastrostomy, United Kingdom, 030104 developmental biology, Italy, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Female, Neurology (clinical), medicine.symptom, Underweight, Deglutition Disorders, business, Body mass index, 030217 neurology & neurosurgery, Oropharyngeal dysphagia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8178e029c5198cfa4fbd6ebf87de3528
https://doi.org/10.1016/j.nmd.2020.12.007

المؤلفون: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61
https://doi.org/10.1212/wnl.0000000000011051

المؤلفون: Francesco Muntoni, R. Mein, Deborah Ridout, Alberto A. Zambon, Anna Sarkozy, Rahul Phadke, Marion Main

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1870-1882 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, Vital capacity, Longitudinal study, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Neurosciences. Biological psychiatry. Neuropsychiatry, Scoliosis, Muscular Dystrophies, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Seizures, medicine, Humans, Child, Muscle, Skeletal, RC346-429, Research Articles, Retrospective Studies, Muscle contracture, business.industry, General Neuroscience, Infant, medicine.disease, Gastrostomy, Natural history, 030104 developmental biology, Child, Preschool, Failure to thrive, Cohort, Female, Laminin, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Corrigendum, business, 030217 neurology & neurosurgery, RC321-571, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6692874e707b3fdb1bc180f97f9c9f9d
http://europepmc.org/articles/PMC7545609

المؤلفون: Annemarie Rohwer, Marion Main, Amy Wolfe, Lianne Abbott, Mariacristina Scoto, Francesco Muntoni

المصدر: Digital posters.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3e6e7c7d3df4c3b6b08b3233893495cf
https://doi.org/10.1136/archdischild-2021-gosh.76

المؤلفون: Harriet Weststrate, Adnan manzur, Georgia Stimpson, Pinki Munot, Marion Main, Emily Johnson, Francois Abel, Elaine Chan, Lisa Edel, Natalie Smith, Giovanni Baranello, Francesco Muntoni, Mariacristina Scoto

المصدر: Digital posters.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4affc788ab3e3194350fe87e422c1514
https://doi.org/10.1136/archdischild-2021-gosh.77

المؤلفون: Yasumasa Hashimoto, Marion Main, Yoshitsugu Aoki, Deborah Ridout, Mariacristina Scoto, Francesco Muntoni, K. Maresh, Silvia Torelli, Giovanni Baranello, Valeria Ricotti, Adnan Y. Manzur, Yoko Ookubo, Lianne Abbott, Vandana Ayyar Gupta, Mary Chesshyre

مصطلحات موضوعية: Gene isoform, medicine.medical_specialty, biology, business.industry, Duchenne muscular dystrophy, Central nervous system, Skeletal muscle, medicine.disease, Phenotype, Grip strength, Endocrinology, medicine.anatomical_structure, Internal medicine, biology.protein, Medicine, Muscular dystrophy, business, Dystrophin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7d68df556d4c4d29335f762e13be0a33
https://doi.org/10.1101/2021.07.27.21261120

المؤلفون: Catherine Rye, Marion Main, Francesco Muntoni

المصدر: Digital poster presentations.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, education.field_of_study, business.industry, Duchenne muscular dystrophy, Population, Disease, medicine.disease, Ambulatory, medicine, In patient, Functional ability, Older sibling, education, Genetic diagnosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::77aa424c691141294f37962f2dc3bed2
https://doi.org/10.1136/archdischild-2020-gosh.87

المؤلفون: Amy Wolfe, Mariacristina Scoto, Mary Chesshyre, Lianne Abbott, Vandana Ayyar Guptar, Stephanie Wadsworth, Adnan Y. Manzur, Victoria Selby, Giovanni Baranello, Francesco Muntoni, Marion Main

المصدر: Digital poster presentations.

مصطلحات موضوعية: musculoskeletal diseases, education.field_of_study, medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, Population, Functional skills, Retrospective cohort study, medicine.disease, Ambulatory, Physical therapy, Medicine, education, business, Hypermobility (travel)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7a6aac726e751a9670ea7b2963a816ef
https://doi.org/10.1136/archdischild-2020-gosh.74

المؤلفون: Jacqueline Montes, Eugenio Mercuri, Darryl C. De Vivo, Basil T. Darras, Francesca Bovis, Francesco Muntoni, Maria Pia Sormani, John W. Day, Marion Main, Mariacristina Scoto, Roberto De Sanctis, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Robert Muni Lofra, Marika Pane, Volker Straub, Richard S. Finkel, Giorgia Coratti, Danielle Ramsey, Tina Duong, Allan M. Glanzman, Elena S. Mazzone, Anna Mayhew

المصدر: Muscle & Nerve. 59:426-430

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Physiology, business.industry, Spinal muscular atrophy, 030105 genetics & heredity, medicine.disease, SMA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Spinal Muscular Atrophy Type 2, 0302 clinical medicine, Muscle nerve, medicine.anatomical_structure, Physical medicine and rehabilitation, Physiology (medical), Functional abilities, medicine, Upper limb, In patient, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fe8e2dcdbcb94b0e97b2e4a26b5c264d
https://doi.org/10.1002/mus.26419

المؤلفون: Pinki Munot, Marion Main, Francesco Muntoni, Adnan Y. Manzur, Dora Steel

المصدر: Developmental Medicine & Child Neurology. 61:964-971

مصطلحات موضوعية: Male, 030506 rehabilitation, Pediatrics, medicine.medical_specialty, Adolescent, Hearing loss, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, medicine, Humans, Facioscapulohumeral muscular dystrophy, Respiratory function, Early childhood, Young adult, Child, Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Retrospective cohort study, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Pediatrics, Perinatology and Child Health, Disease Progression, Female, Neurology (clinical), Symptom Assessment, medicine.symptom, 0305 other medical science, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e5f948c722c004b8a8e5d4b8eb5168
https://doi.org/10.1111/dmcn.14142