المؤلفون: Crisafulli, Oscar, Berardinelli, Angela, D'Antona, Giuseppe

المساهمون: Crisafulli, Oscar, Berardinelli, Angela, D'Antona, Giuseppe

مصطلحات موضوعية: SMA1, SMA2, SMA3, SMN1 gene, neuromuscular fatigue, skeletal muscle

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38586164; volume:43; issue:1; journal:ACTA MYOLOGICA; https://hdl.handle.net/11571/1494515Test

الإتاحة: https://doi.org/10.36185/2532-1900-402Test
https://hdl.handle.net/11571/1494515Test

المؤلفون: Sansone VA, Pirola A, Albamonte E, Pane M, Lizio A, D'Amico A, Catteruccia M, Cutrera R, Bruno C, Pedemonte M, Messina S, Rao F, Roma E, Salmin F, Coratti G, Di Bari A, De Sanctis R, Pera CM, Sframeli M, Piastra M, Macagno F, Vita G, Bertini E, Mercuri E

المساهمون: V. Sansone, A. Pirola, E. Albamonte, M. Pane, A. Lizio, A. D'Amico, M. Catteruccia, R. Cutrera, C. Bruno, M. Pedemonte, S. Messina, F. Rao, E. Roma, F. Salmin, G. Coratti, A. Di Bari, R. De Sancti, C. Pera, M. Sframeli, M. Piastra, F. Macagno, G. Vita, E. Bertini, E. Mercuri

مصطلحات موضوعية: SMA1, nusinersen, respiratory function, ventilation, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32035635; info:eu-repo/semantics/altIdentifier/wos/WOS:000522622000045; volume:219; firstpage:223; lastpage:228.e4; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; http://hdl.handle.net/2434/795237Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078897306

الإتاحة: https://doi.org/10.1016/j.jpeds.2019.12.047Test
http://hdl.handle.net/2434/795237Test

المؤلفون: Coratti G., Piastra M., Mercuri E.

المساهمون: Sansone, V. A., Pirola, A., Albamonte, E., Pane, M., Lizio, A., D'Amico, A., Catteruccia, M., Cutrera, R., Bruno, C., Pedemonte, M., Messina, S., Rao, F., Roma, E., Salmin, F., Coratti, Giorgia, Di Bari, A., De Sanctis, R., Pera, C. M., Sframeli, M., Piastra, Marco, Macagno, F., Vita, G., Bertini, E., Mercuri, Eugenio Maria

مصطلحات موضوعية: nusinersen, respiratory function, SMA1, ventilation, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32035635; info:eu-repo/semantics/altIdentifier/wos/WOS:000522622000045; volume:219; issue:219; firstpage:223; lastpage:228.e4; issueyear:2020; journal:THE JOURNAL OF PEDIATRICS; http://hdl.handle.net/10807/153583Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078897306

الإتاحة: https://doi.org/10.1016/j.jpeds.2019.12.047Test
http://hdl.handle.net/10807/153583Test

المؤلفون: Pane, Marika, Coratti, Giorgia, De Sanctis, Roberto, Pera, Carmela Maria, Piastra, Marco, Macagno, Francesco, Bertini, Enrico, Mercuri, Eugenio

المساهمون: Sansone, Valeria A, Pirola, Alice, Albamonte, Emilio, Pane, Marika, Lizio, Andrea, D'Amico, Adele, Catteruccia, Michela, Cutrera, Renato, Bruno, Claudio, Pedemonte, Marina, Messina, Sonia, Rao, Fabrizio, Roma, Elisabetta, Salmin, Francesca, Coratti, Giorgia, Di Bari, Alessandra, De Sanctis, Roberto, Pera, Maria Carmela, Sframeli, Maria, Piastra, Marco, Macagno, Francesco, Vita, Giuseppe, Bertini, Enrico Silvio, Mercuri, Eugenio Maria

مصطلحات موضوعية: SMA1, nusinersen, respiratory function, ventilation, Cohort Studies, Female, Humans, Infant, Longitudinal Studies, Male, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Noninvasive Ventilation, Respiration, Settore MED/26 - NEUROLOGIA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32035635; info:eu-repo/semantics/altIdentifier/wos/WOS:000522622000045; volume:219; issue:APR; firstpage:223; lastpage:228; numberofpages:6; issueyear:2020; journal:THE JOURNAL OF PEDIATRICS; http://hdl.handle.net/10807/213607Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078897306

الإتاحة: https://doi.org/10.1016/j.jpeds.2019.12.047Test
http://hdl.handle.net/10807/213607Test

المؤلفون: Amemiya, Yukie

المصدر: 日本女子体育大学紀要. 48:47-59

مصطلحات موضوعية: child, artificial respirators, type 1 spinal muscular atrophy (SMA1), bathing care, concerned party research

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=jairo_______::f75a743627a6d4511078284a5ac2f7e4Test
https://jwcpe.repo.nii.ac.jp/records/978Test

المؤلفون: Valeria A. Sansone, Marina Pedemonte, Roberto De Sanctis, Enrico Bertini, Claudio Bruno, Francesco Macagno, Michela Catteruccia, Eugenio Mercuri, Alessandra Di Bari, Fabrizio Rao, Adele D'Amico, Marika Pane, Renato Cutrera, Elisabetta Roma, Andrea Lizio, Sonia Messina, Emilio Albamonte, Giuseppe Vita, Alice Pirola, Marco Piastra, Carmela Maria Pera, Francesca Salmin, Maria Sframeli, Giorgia Coratti

المصدر: The Journal of Pediatrics. 219:223-228.e4

مصطلحات موضوعية: Male, Artificial ventilation, medicine.medical_specialty, medicine.medical_treatment, Oligonucleotides, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Spinal Muscular Atrophies of Childhood, SMA1, Cohort Studies, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, respiratory function, 030225 pediatrics, Internal medicine, medicine, Humans, Respiratory function, Longitudinal Studies, 030212 general & internal medicine, Prospective cohort study, Noninvasive Ventilation, business.industry, Respiration, nusinersen, ventilation, Infant, Spinal muscular atrophy, medicine.disease, Settore MED/26 - NEUROLOGIA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Pediatrics, Perinatology and Child Health, Cohort, Breathing, Female, Nusinersen, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb505e3ae92c12af798a472d4b0fb68Test
https://doi.org/10.1016/j.jpeds.2019.12.047Test

المؤلفون: Kavitha Kotha, Richard Shell, O. Dabbous, Douglas M. Sproule, Kathleen Church, Linda Lowes, W. David Arnold, Grace R. Paul, Benit Maru, Samiah Al-Zaidy, Kelly J. Lehman, K. Berry, Lindsay N. Alfano, John T. Kissel, Jerry R. Mendell, A. Simon Pickard

المصدر: Pediatric Pulmonology

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Neuromuscular disease, Psychological intervention, SMN1, SMA1, Spinal Muscular Atrophies of Childhood, Sitting, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Quality of life, 030225 pediatrics, Internal medicine, Medicine, health outcomes, Humans, AVXS‐101, Original Article: Pcd, Pig, Nehi, Child, and Rare Diseases, spinal muscular atrophy, business.industry, PCD, PIG, NEHI, ChiLD, and Rare Diseases, Infant, Newborn, Infant, gene replacement, Caregiver burden, Spinal muscular atrophy, Original Articles, Genetic Therapy, medicine.disease, gene therapy, Survival of Motor Neuron 1 Protein, Natural history, Treatment Outcome, 030228 respiratory system, quality of life, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2756f8bf3beb278c448f6b823c4d3b08Test
https://pubmed.ncbi.nlm.nih.gov/30884211Test

المؤلفون: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS

المساهمون: Viviana Marchi, MD, PhD

المصدر: MarchV, RzR, Nevalaen P, MelanF, LorS, AntonellC, Vanhatalo S, Guzzetta A. Asymmetry sleep spdles and motor outcome fants wh unateral bra jury. Dev Med Chd Neurol. 2022 Nov;64(11):1375-1382. do 10.1111/dmcn.15244. Epub 2022 Apr 20.
SONNO - Sleep Spindles Organization as an Early Neural Marker of Neuromotor Outcome: a New, Fast, Safe, Cost-effective and Infant-friendly EEG Tool to Monitor Early Sensory-motor Function in Infants at Risk of Neuromotor Disorders.

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT06256887Test

المؤلفون: Great Ormond Street Hospital for Children NHS Foundation Trust

المصدر: Exploring Bulbar Function, Speech And Communication Development in SMA Type 1 (ExSpAnD SMA)

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT05954455Test

المؤلفون: Carrozzi, M, Amaddeo, A, BIONDI, ANDREA, Zanus, C, Monti, F, Alessandro, V.

المساهمون: Carrozzi, M, Amaddeo, A, Biondi, A, Zanus, C, Monti, F, Alessandro, V

مصطلحات موضوعية: Stem cells, severe infantile spinal muscular atrophy (SMA1)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23046997; info:eu-repo/semantics/altIdentifier/wos/WOS:000311816100016; volume:22; issue:11; firstpage:1032; lastpage:1034; numberofpages:3; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/10281/50184Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84868156630

الإتاحة: https://doi.org/10.1016/j.nmd.2012.09.005Test
http://hdl.handle.net/10281/50184Test