المؤلفون: Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah, Dennis E. Bulman

المصدر: International Journal of Neonatal Screening, Vol 9, Iss 3, p 42 (2023)

مصطلحات موضوعية: SMA, newborn screening, SMN1, multiplex qPCR, gene therapy, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2409-515X/9/3/42Test; https://doaj.org/toc/2409-515XTest

الوصول الحر: https://doaj.org/article/97e95b2ed9bf43259e70a2f9d8551649Test

المؤلفون: Lena, Xiao, Jackie, Chiang, Maria, Castro-Codesal, Hanna, Kolski, Prabhjot, Bedi, Fatema, Al Amrani, Hernan D, Gonorazky, Reshma, Amin

المصدر: Pediatric Pulmonology. 58:161-170

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55c25865d0b79a8f292eca32dd57cd29Test
https://doi.org/10.1002/ppul.26173Test

المؤلفون: John W. Day, Mar Tulinius, Alan Pestronk, Tina Duong, Tulio E. Bertorini, Alberto Dubrovsky, Nanette C. Joyce, Anne M. Connolly, Hanna Kolski, Lauren P. Morgenroth, Hoda Abdel-Hamid, Ksenija Gorni, Craig M. McDonald, Erik K Henricson, Erik Landfeldt, Yoram Nevo, Jose Carlo, Sherilyn W. Driscoll, Laura McAdam, S. Chidambaranathan, Paula R. Clemens, Avital Cnaan, Jean Teasley, W. Douglas Biggar, Joel Iff, Andrew J. Kornberg, Nancy L. Kuntz, E. Henricson, Jean K. Mah, Carolina Tesi-Rocha, Robert T. Leshner, Mathula Thangarajh, Richard D. Webster, V. Vishwanathan, Monique M. Ryan, John B. Bodensteiner, Timothy Lotze, Richard T. Abresch, Peter I. Karachunski

المصدر: Value Health

مصطلحات موضوعية: medicine.medical_specialty, Neuromuscular disease, Adolescent, Psychometrics, Duchenne muscular dystrophy, Population, Pediatrics, Article, Quality of life, Surveys and Questionnaires, medicine, Humans, Child, education, education.field_of_study, Rasch model, business.industry, Health Policy, Public Health, Environmental and Occupational Health, medicine.disease, Muscular Dystrophy, Duchenne, Child, Preschool, Quality of Life, Physical therapy, Patient-reported outcome, business, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd36dd2d6151eb55eab84c122ed70a8Test
https://doi.org/10.1016/j.jval.2021.05.016Test

المؤلفون: Goemans N., Signorovitch J., Sajeev G., Yao Z., Gordish-Dressman H., McDonald C. M., Vandenborne K., Miller D., Ward S. J., Mercuri E., Nicolas Deconinck, Mar Tulinius, Erik H Niks, Imelda De Groot, Kevin Flanigan, Erik Henricson, Brenda Wong, Maria Bernadete Dutra de Resende, Gian Luca Vita, Ulrike Schara, JanBerd Kirschner, Eugenio Mercuri, Haluk Topaloglu, Soledad Monges, Claude Cances, V Vishwanathan, S Chidambaranathan, W Douglas Biggar, Laura C. McAdam, Jean K Mah, Avital Cnaan, Lauren P Morgenroth, Robert Leshner, Carolina Tesi-Rocha, Mathula Thangarajh, Tina Duong, Andrew Kornberg, Monique M. Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R Clemens, Hoda Abdel-Hamid, Anne Connolly, Alan Pestronk, Jean Teasley, Tulio Bertorini, Richard Webster, Hanna Kolski, Nancy L Kuntz, Sherilyn Driscoll, John Bodensteiner, Jose Carlo, Ksenija Gornia, Timothy Lotze, John Day, Peter Karachunski, E Henricson, R. Ted Abresch, Nannette Joyce, Harneet Arora, Rebecca J Willcocks, Donovan J Lott, Ann T Harrington, Claudia R Senesac, Kirsten L Zilke, Michael J Daniels, Dandan Xu, Gihan I Tennekoon, Erika L Finanger, Barry S Russman, Richard S Finkel, William T Triplett, Barry J Byrne, Glenn A Walter, H L Sweeney, Marika Pane, Elena Mazzone, Sonia Messina, GianLuca Vita, Maria Pia Sormani, Adele D'Amico, Enrico Bertini, Angela Berardinelli, Francesca Magri, Giacomo Pietro Comi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Claudio Bruno, Luisa Politano, Stefano Previtali

المساهمون: N., Goeman, J., Signorovitch, G., Sajeev, Z., Yao, H., Gordish-Dressman, C. M., Mcdonald, K., Vandenborne, D., Miller, S. J., Ward, E., Mercuri, Deconinck, Nicola, Tulinius, Mar, H Niks, Erik, De Groot, Imelda, Flanigan, Kevin, Henricson, Erik, Wong, Brenda, Bernadete Dutra de Resende, Maria, Luca Vita, Gian, Schara, Ulrike, Kirschner, Janberd, Mercuri, Eugenio, Topaloglu, Haluk, Monges, Soledad, Cances, Claude, Vishwanathan, V, Chidambaranathan, S, Douglas Biggar, W, Mcadam, Laura C., K Mah, Jean, Cnaan, Avital, P Morgenroth, Lauren, Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, Duong, Tina, Kornberg, Andrew, Ryan, Monique M., Nevo, Yoram, Dubrovsky, Alberto, R Clemens, Paula, Abdel-Hamid, Hoda, Connolly, Anne, Pestronk, Alan, Teasley, Jean, Bertorini, Tulio, Webster, Richard, Kolski, Hanna, L Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John, Carlo, Jose, Gornia, Ksenija, Lotze, Timothy, Day, John, Karachunski, Peter, Henricson, E, Ted Abresch, R., Joyce, Nannette, Arora, Harneet, J Willcocks, Rebecca, J Lott, Donovan, T Harrington, Ann, R Senesac, Claudia, L Zilke, Kirsten, J Daniels, Michael, Xu, Dandan, I Tennekoon, Gihan, L Finanger, Erika, S Russman, Barry, S Finkel, Richard, T Triplett, William, J Byrne, Barry, A Walter, Glenn, L Sweeney, H, Pane, Marika, Mazzone, Elena, Messina, Sonia, Vita, Gianluca, Pia Sormani, Maria, D'Amico, Adele, Bertini, Enrico, Berardinelli, Angela, Magri, Francesca, Pietro Comi, Giacomo, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Bruno, Claudio, Politano, Luisa, Previtali, Stefano

مصطلحات موضوعية: Child, Drug Evaluation, Human, Male, Muscular Dystrophy, Duchenne, Pragmatic Clinical Trials as Topic, Walk Test, Research Design

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32611643; info:eu-repo/semantics/altIdentifier/wos/WOS:000576014200020; volume:95; issue:10; firstpage:e1381; lastpage:e1391; journal:NEUROLOGY; http://hdl.handle.net/11591/439278Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090510248

الإتاحة: https://doi.org/10.1212/WNL.0000000000010170Test
http://hdl.handle.net/11591/439278Test

المؤلفون: Oana Caluseriu, Denis Arutyunov, Hanna Kolski, Atilano Lacson, Daniel Brandwein, Elaine M. Leslie, Cassandra Janetzki‐Flatt, Monica Baradi, Norma Leonard, Stacey Hume, Emmanuelle Cordat, Mayukh Banerjee, James Watt

المصدر: Human mutation. 40(10)

مصطلحات موضوعية: Male, Genotype, Gene Expression, Biology, medicine.disease_cause, Neuromuscular junction, Reuptake, 03 medical and health sciences, chemistry.chemical_compound, Consanguinity, Fatal Outcome, Protein Domains, Genetics, medicine, El Salvador, Choline, Humans, Gene, Genetics (clinical), Alleles, 030304 developmental biology, Myasthenic Syndromes, Congenital, 0303 health sciences, Mutation, Symporters, 030305 genetics & heredity, Infant, Newborn, Infant, Congenital myasthenic syndrome, medicine.disease, Solute carrier family, Pedigree, Choline transporter, medicine.anatomical_structure, Phenotype, chemistry, Amino Acid Substitution, Female, Genes, Lethal

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579f93b1587d3a4dff6d01d6fdaccdc5Test
https://pubmed.ncbi.nlm.nih.gov/31299140Test

المؤلفون: Hanna Kolski, Robert Ogilvie

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:631-632

مصطلحات موضوعية: Autoimmune disease, Pediatrics, medicine.medical_specialty, Neurology, business.industry, medicine, Neurology (clinical), General Medicine, Pediatric Neurology, business, medicine.disease, Stiff person syndrome, Term (time)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0d1a07309b341839bdd666c0f1ab2814Test
https://doi.org/10.1017/cjn.2019.74Test

المؤلفون: Craig M McDonald, Erik K Henricson, Richard T Abresch, Tina Duong, Nanette C Joyce, Fengming Hu, Paula R Clemens, Eric P Hoffman, Avital Cnaan, Heather Gordish-Dressman, Vijay Vishwanathan, S Chidambaranathan, W. Douglas Biggar, Laura C. McAdam, Jean K. Mah, Mar Tulinius, Lauren P. Morgenroth, Robert Leshner, Carolina Tesi-Rocha, Mathula Thangarajh, Andrew Kornberg, Monique Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R. Clemens, Hoda Abdel-Hamid, Anne M. Connolly, Alan Pestronk, Jean Teasley, Tulio E. Bertorin, Richard Webster, Hanna Kolski, Nancy Kuntz, Sherilyn Driscoll, John B. Bodensteiner, Jose Carlo, Ksenija Gorni, Timothy Lotze, John W. Day, Peter Karachunski, Erik K. Henricson, Richard T. Abresch, Nanette C. Joyce, Craig M. McDonald

المصدر: Lancet (London, England). 391(10119)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Supine position, Movement disorders, Adolescent, Duchenne muscular dystrophy, Developmental Disabilities, Kaplan-Meier Estimate, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Quality of life, medicine, Humans, Prospective Studies, Muscular dystrophy, Young adult, Prospective cohort study, Child, Glucocorticoids, Movement Disorders, business.industry, General Medicine, medicine.disease, Long-Term Care, Clinical trial, Muscular Dystrophy, Duchenne, 030104 developmental biology, Child, Preschool, Physical therapy, Disease Progression, Quality of Life, medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f38415fc2e2d875fa6336a65f6e45cTest
https://pubmed.ncbi.nlm.nih.gov/29174483Test

المؤلفون: Lisa Wahlgren, Cameron Kennedy, Betsy Malkus, Justin Malane, Casey Nguyen, Anjali Gupta, Erica Goude, Linda Johnson, Heather Gordish-Dressman, Victoria Rodriguez, Marcia Margolis, Susan Blair, Angela Gonzales, David D. Kilmer, Lori Walker, Paola Canelos, Julaine Florence, Amy Erickson, Jay Han, Angela Chiu, Laila Eliasoph, Nancy L. Kuntz, Gareth Parry, Eugenio Monasterio, Luz Andreone, Valentina Morettini, Zoë Sund, Avital Cnaan, Jason Weimer, Lucia Chen, Krista Coleman-Wood, Alina Nicorici, Ann Hoffman, Michelle Cregan, Hanna Kolski, Lauren P. Morgenroth, Richard Webster, Lorena Levi, C. Chidambaranathan, Paul Golumbak, Dani Villano, Reiko Shimizu, Stephanie Wicks, Caitlin Wright, Naomi Bartley, Alessandro Molteni, Anne Christine Alhander, Renee Renna, Hoda Abdel-Hamid, Christopher G. Bise, Duygu Selcen, Glenn Lopate, Debbie Yaffe, Suresh Kumar, K. Carroll, Rachel Young, Jennifer Thannhauser, Pura Fuste, David Walk, Ann Craig, Rachel A. Kennedy, T. Duong, Karen Jones, Elizabeth Hosaki, Elana Wisband, Robert S. McNeil, M. Al-Lozi, Wendy Korn-Petersen, Kristy Rose, Paula R. Clemens, Katy DeValle, Luca Capone, Jeanine Schierbacker, Catherine Seiner, Marissa Birkmeier, Robert Casper, Antonio Arrieta, Anna Karin Kroksmark, Sarah Kaminski, Mehrnaz Yousefi, Vivienne Harris, Maria Beneggi, Andrew J. Kornberg, Sheila Espada, Barbara Grillo, Cameron E. Naughton, Merete Glick, Christopher F. Spurney, Adina Bar Leve, Nanette C. Joyce, Jose Corderi, Ulrika Sterky, Carlos A. Luciano, Cassandra Feliciano, A. Zimmerman, Anne Berit Ekström, Judy Clift, Meegan Barrett-Adair, F. Hu, Brenda Deliz, Charlie Wulf, Lilia Mesa

المصدر: Muscle & Nerve. 50:250-256

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Physiology, business.industry, Duchenne muscular dystrophy, Cardiomyopathy, medicine.disease, nervous system diseases, Natural history, Cellular and Molecular Neuroscience, Physiology (medical), mental disorders, Physical therapy, medicine, In patient, Neurology (clinical), business, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f688f697e6c7b61c694c2a2c0f4defe9Test
https://doi.org/10.1002/mus.24163Test

المؤلفون: Nigel F. Clarke, Michèle Mayer, Willie Stewart, Carina Wallgren-Pettersson, Ricardo Reisin, Marion Gérard, Steven B. Marston, Cheryl Longman, Moshe Frydman, Vilma-Lotta Lehtokari, Marianne de Visser, Enrico Bertini, Jacob S. Hogue, Tuula A. Nyman, Mikaela Grönholm, Eugenio Mercuri, Brigitte Gilbert-Dussardier, Katarina Pelin, Alan H. Beggs, Kristen J. Nowak, Sylviane Peudenier-Robert, Tom L. Winder, Helena Pihko, Frank J. Probst, Ekkehard Wilichowski, Ana Lia Taratuto, OÖzge Ceyhan-Birsoy, Hans Lochmüller, Nicole Monnier, Christine Barnerias, John B Winer, M. Marttila, Hanna Kolski, Pascal Cintas, Kathryn N. North, Nigel G. Laing, Lars Klinge, Bruno Eymard, Peter B. Kang, Laurent Magy, Véronique Manel

المساهمون: Neurology

المصدر: Human mutation, 35(7), 779-790. Wiley-Liss Inc.

مصطلحات موضوعية: hypercontractile phenotype, Male, Tropomyosin, medicine.disease_cause, TPM2, 0302 clinical medicine, Nemaline myopathy, congenital myopathy, Databases, Genetic, Phosphorylation, Child, Genetics (clinical), Genetics, 0303 health sciences, Mutation, Skeletal, Phenotype, 3. Good health, Child, Preschool, Muscle, Female, medicine.symptom, actin, Protein Binding, Adult, Adolescent, Molecular Sequence Data, genotype-phenotype correlation, Biology, Article, Young Adult, Databases, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Muscular Diseases, Genetic, medicine, Humans, Amino Acid Sequence, Muscle, Skeletal, Preschool, Myopathy, Genetic Association Studies, Actin, 030304 developmental biology, Infant, medicine.disease, Congenital myopathy, Actins, TPM3, Sequence Alignment, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a4e5333d553fbe83171c9d05e8e2907Test
https://doi.org/10.1002/humu.22554Test

المؤلفون: Hanna Kolski, Yusuke Echigoya, Toshifumi Yokota, William Duddy

المصدر: Ulster University

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Morpholino, Duchenne muscular dystrophy, media_common.quotation_subject, Clinical Biochemistry, Nonsense mutation, Nonsense, Dystrophin, Translational Research, Biomedical, Exon, Drug Discovery, medicine, Animals, Humans, Genetic Predisposition to Disease, Precision Medicine, Muscular dystrophy, media_common, Pharmacology, Genetics, biology, Exons, Genetic Therapy, medicine.disease, Exon skipping, Muscular Dystrophy, Duchenne, Phenotype, Codon, Nonsense, biology.protein, Oligoribonucleotides, Antisense

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be93764eaaf8279e733ccab52844b59bTest
https://doi.org/10.1517/14712598.2012.693469Test