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1دورية أكاديميةOnasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
المؤلفون: Arlene M. D'Silva, Sandra Holland, Didu Kariyawasam, Karen Herbert, Peter Barclay, Anita Cairns, Suzanna C. MacLennan, Monique M. Ryan, Hugo Sampaio, Nicholas Smith, Ian R. Woodcock, Eppie M. Yiu, Ian E. Alexander, Michelle A. Farrar
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 3, Pp 339-350 (2022)
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
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المؤلفون: Marcello Scala, Nathalie Drouot, Suzanna C. MacLennan, Marja W. Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A. de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S. Lipska‐Ziętkiewicz, Jasper J. Saris, Nicolas Charlet‐Berguerand, Federico Zara, Pasquale Striano, Amélie Piton
المساهمون: Clinical Genetics
المصدر: Human Mutation, 43(9), 1299-1313. Wiley-Liss Inc.
مصطلحات موضوعية: NOVA2, RNA-Binding Proteins, Nerve Tissue Proteins, neurodevelopmental disorder, alternative splicing, myoclonic seizures, psychomotor regression, truncating variants, Alternative Splicing, HeLa Cells, Humans, Muscle Hypotonia, Neuro-Oncological Ventral Antigen, Phenotype, Intellectual Disability, Neurodevelopmental Disorders, Genetics, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Clare van Eyk, Suzanna C. MacLennan, Alastair H. MacLennan
المصدر: JAMA Pediatrics. 177:455
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::09536d19514f567163a1a637bb1dea54
https://doi.org/10.1001/jamapediatrics.2023.0015 -
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المؤلفون: Jeff L. Waugh, Mahalia S.B. Frank, Xiaoyang Wang, Antigone Papavasileiou, Michael C. Sierant, Nadia Badawi, Bohao Zhang, Chongchen Zhou, Sheetal Shetty, Sheng Chih Jin, Susan M Reid, Changlian Zhu, Francisca Millan, Suzanna C. MacLennan, Julien Buratti, David J. Amor, Stephen Pastore, Lance H. Rodan, Timothy Feyma, Janice E. Brunstrom-Hernandez, Kylie E. Crompton, Megan Cho, Helen Magee, Sergio Padilla-Lopez, Julie S. Cohen, Daniela C. Zarnescu, Richard P. Lifton, Aureliane Elie, Michael C. Kruer, Qiongshi Lu, Sandra Whalen, Christopher Castaldi, John B. Vincent, Chao Gao, Irina Tikhonova, Ali Fatemi, Qinghe Xing, Dinah Reddihough, Lei Xia, Bethany Y. Norton, Shozeb Haider, Shrikant Mane, Yana A. Wilson, Dengna Zhu, Yangong Wang, Somayeh Bakhtiari, Francesc López-Giráldez, Michael C Fahey, Clare L. van Eyk, Sarah McIntyre, Jozef Gecz, Junhui Zhang, Xue Zeng, Jennifer Heim, Iona Novak, Spencer Vaughan, John P. Phillips, Sara A. Lewis, Angela E. Lin, Diane Doummar, Mark A. Corbett, Kyle Retterer, James R. Knight, Qing Shang, Boyang Li, Yiran Xu, James Liu, Boris Keren, Sandra M. Nordlie, Kaya Bilguvar, Amar H. Sheth, Dani L. Webber, Alastair H. MacLennan, Brandon S. Guida, Kelly Harper, Jesia G. Berry
المصدر: Nat Genet
مصطلحات موضوعية: Male, Cyclin D, RHOB, medicine.disease_cause, Article, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Tubulin, Exome Sequencing, RhoB GTP-Binding Protein, Neurites, Genetics, medicine, Animals, Humans, Exome, Genetic Predisposition to Disease, rhoB GTP-Binding Protein, Cytoskeleton, beta Catenin, Exome sequencing, 030304 developmental biology, Focal Adhesions, 0303 health sciences, Mutation, biology, Genome, Human, Cerebral Palsy, F-Box Proteins, Tumor Suppressor Proteins, Sequence Analysis, DNA, medicine.disease, Human genetics, Extracellular Matrix, biology.protein, Drosophila, Female, 030217 neurology & neurosurgery, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b61cf5154431c4aea3d318e3b9d69a
https://europepmc.org/articles/PMC9148538/ -
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المؤلفون: Jozef Gecz, Mark A. Corbett, Lyle J. Palmer, Alastair H. MacLennan, Ben W.J. Mol, Jesia G. Berry, Clare L. van Eyk, Dani L. Webber, Ryan Pham, Suzanna C. MacLennan
المصدر: Developmental medicine and child neurologyReferences. 62(9)
مصطلحات موضوعية: Genetics, 030506 rehabilitation, Consensus, Databases, Factual, business.industry, Cerebral Palsy, Guidelines as Topic, medicine.disease, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Phenotype, Developmental Neuroscience, Population Surveillance, Pediatrics, Perinatology and Child Health, Medicine, Humans, Neurology (clinical), Registries, 0305 other medical science, business, 030217 neurology & neurosurgery
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المؤلفون: Diana Castro, Ying Hu, Anirban Majumdar, Beryl B. Cummings, Daniel G. MacArthur, Mridul Johari, Denise M. Malicki, Sandra Donkervoort, John Vissing, Adam Bournazos, Helen Doyle, Carla Grosmann, Sandra T. Cooper, Ana Töpf, Kristl G. Claeys, Gina L. O'Grady, Ben Weisburd, Carsten G. Bönnemann, Julia Baptista, Ana Beleza-Meireles, Mark R. Davis, Nanna Witting, Bjarne Udd, Marco Savarese, Anna Vihola, Laurent C. Francioli, Suzanna C. MacLennan, Jason Pinner, Fathimath Faiz, Kathryn Urankar, Lisa Ewans, Samantha J. Bryen, Sian Ellard, Volker Straub, Katherine R. Chao
المساهمون: Department of Medical and Clinical Genetics, Medicum, University of Helsinki
المصدر: Hum Mutat
مصطلحات موضوعية: Male, Genes, Recessive, Biology, TITIN, Article, Frameshift mutation, arthrogryposis, 03 medical and health sciences, Exon, alternative splicing, Muscular Diseases, Genetics, medicine, Humans, Connectin, Genetic Predisposition to Disease, Myopathy, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Arthrogryposis, 0303 health sciences, Arthrogryposis multiplex congenita, 030305 genetics & heredity, Alternative splicing, Intron, 1184 Genetics, developmental biology, physiology, Infant, Molecular biology, Pedigree, Radiography, Phenotype, congenital titinopathies, Child, Preschool, TTN metatranscript-only, Mutation, biology.protein, Titin, Female, 3111 Biomedicine, medicine.symptom, intronic splice variant
وصف الملف: Print-Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e44ba48f8cc6034e667d87c8c8701a63
http://hdl.handle.net/10138/326361 -
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المؤلفون: Mahalia S.B. Frank, Chao Gao, Brandon S. Guida, Dani L. Webber, Aureliane Elie, Bohao Zhang, Kelly Harper, Richard P. Lifton, Dengna Zhu, Jesia G. Berry, Iona Novak, Xiaoyang Wang, Antigone Papavasileiou, Yana A. Wilson, Francesc López-Giráldez, Michael C Fahey, Sergio Padilla-Lopez, Boris Keren, Jozef Gecz, Jeff L. Waugh, Shozeb Haider, Michael C. Sierant, Kyle Retterer, Sandra Whalen, Yangong Wang, Lance H. Rodan, Clare L. van Eyk, Megan Cho, Qiongshi Lu, Sheetal Shetty, John P. Phillips, Stephen Pastore, John B. Vincent, Chongchen Zhou, Sara A. Lewis, Bethany Y. Norton, Xue Zeng, Timothy Feyma, Qing Shang, Mark A. Corbett, Janice E. Brunstrom-Hernandez, Susan M Reid, Julie S. Cohen, Michael C. Kruer, Christopher Castaldi, Nadia Badawi, Spencer Vaughan, Qinghe Xing, Sandra M. Nordlie, Daniela C. Zarnescu, Angela E. Lin, David J. Amor, Sarah McIntyre, Julien Buratti, Jennifer Heim, Shrikant Mane, Yiran Xu, Suzanna C. MacLennan, Helen Magee, Somayeh Bakhtiari, Amar H. Sheth, Changlian Zhu, Alastair H. MacLennan, Kylie E. Crompton, Kaya Bilguvar, Sheng Chih Jin, Junhui Zhang, Diane Doummar, Francisca Millan, Irina Tikhonova, Ali Fatemi, Dinah Reddihough, Lei Xia, Hongyu Zhao, James Liu, James R. Knight, Boyang Li
المصدر: Nature Genetics. 53:412-412
مصطلحات موضوعية: Genetics, MEDLINE, medicine, Biology, Bioinformatics, medicine.disease, Gene, Cerebral palsy
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المؤلفون: Pyara D. Ratanayake, Elizabeth Fagan, Suzanna C. MacLennan, K. Forrest, Fiona M. Wade, Jayne Antony
المصدر: Journal of Child Neurology. 23:1300-1304
مصطلحات موضوعية: Male, Adolescent, Nausea, Migraine Disorders, Riboflavin, Analgesic, Placebo-controlled study, Placebo, law.invention, Double-Blind Method, Randomized controlled trial, law, medicine, Humans, Prospective Studies, Child, Retrospective Studies, business.industry, medicine.disease, Migraine, Anesthesia, Vitamin B Complex, Pediatrics, Perinatology and Child Health, Vomiting, Female, Neurology (clinical), medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bab45e7fafdb285b4247dab12374c3c
https://doi.org/10.1177/0883073808318053 -
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المؤلفون: Frances Page Glascoe, Richard Reading, Suzanna C. MacLennan
المصدر: Child: Care, Health and Development. 30:297-300
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Public Health, Environmental and Occupational Health, Developmental and Educational Psychology
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المؤلفون: C Augood, Stuart Logan, Ruth Gilbert, Suzanna C. MacLennan
المصدر: Journal of Paediatrics and Child Health. 36:524-529
مصطلحات موضوعية: Cisapride, medicine.medical_specialty, Gastrointestinal agent, business.industry, Esophageal disease, Reflux, Odds ratio, Placebo, medicine.disease, law.invention, Surgery, Gastrointestinal Agents, Randomized controlled trial, law, Internal medicine, Pediatrics, Perinatology and Child Health, Gastroesophageal Reflux, Humans, Medicine, Child, business, Adverse effect, Randomized Controlled Trials as Topic, medicine.drug
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