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Wyszukujesz frazę ""SPINAL muscular atrophy"" wg kryterium: Temat


Tytuł:
Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen.
Autorzy:
Andrés-Benito, Pol (AUTHOR)
Vázquez-Costa, Juan Francisco (AUTHOR)
Ñungo Garzón, Nancy Carolina (AUTHOR)
Colomina, María J. (AUTHOR)
Marco, Carla (AUTHOR)
González, Laura (AUTHOR)
Terrafeta, Cristina (AUTHOR)
Domínguez, Raúl (AUTHOR)
Ferrer, Isidro (AUTHOR)
Povedano, Mónica (AUTHOR)
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Źródło:
International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 7, p3810. 18p.
Czasopismo naukowe
Tytuł:
Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy.
Autorzy:
Lapp, Hanna Sophie (AUTHOR)
Freigang, Maren (AUTHOR)
Friese, Johannes (AUTHOR)
Bernsen, Sarah (AUTHOR)
Tüngler, Victoria (AUTHOR)
von der Hagen, Maja (AUTHOR)
Weydt, Patrick (AUTHOR)
Günther, René (AUTHOR)
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Źródło:
Scientific Reports. 3/19/2024, Vol. 14 Issue 1, p1-10. 10p.
Czasopismo naukowe
Tytuł:
Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study.
Autorzy:
Iammarino, Megan A. (AUTHOR)
Alfano, Lindsay N. (AUTHOR)
Reash, Natalie F. (AUTHOR)
Sabo, Brenna (AUTHOR)
Conroy, Sara (AUTHOR)
Noritz, Garey (AUTHOR)
Wendland, Madalynn (AUTHOR)
Lowes, Linda P. (AUTHOR)
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Źródło:
PLoS ONE. 3/19/2024, Vol. 19 Issue 3, p1-16. 16p.
Czasopismo naukowe
Tytuł:
Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR.
Autorzy:
Yao, Mei (AUTHOR)
Jiang, Liya (AUTHOR)
Yu, Yicheng (AUTHOR)
Cui, Yiqin (AUTHOR)
Chen, Yuwei (AUTHOR)
Zhou, Dongming (AUTHOR)
Gao, Feng (AUTHOR)
Mao, Shanshan (AUTHOR)
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Źródło:
BMC Neurology. 3/11/2024, Vol. 24 Issue 1, p1-10. 10p.
Czasopismo naukowe
Tytuł:
Low Bone Mass in Ambulatory Spinal Muscular Atrophy: A Proactive Approach for an Often-Overlooked Impairment.
Autorzy:
Trancho, Caitlin (AUTHOR)
Stickney, Bailey (AUTHOR)
Kinirons, Stacy (AUTHOR)
Uher, David (AUTHOR)
Kanner, Cara H. (AUTHOR)
Rao, Ashwini K. (AUTHOR)
McDermott, Michael P. (AUTHOR)
Garber, Carol Ewing (AUTHOR)
De Vivo, Darryl C. (AUTHOR)
Montes, Jacqueline (AUTHOR)
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Źródło:
Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 5, p1336. 12p.
Czasopismo naukowe
Tytuł:
Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.
Autorzy:
Henderson, Marian L. (AUTHOR)
Zieba, Jacob K. (AUTHOR)
Li, Xiaopeng (AUTHOR)
Campbell, Daniel B. (AUTHOR)
Williams, Michael R. (AUTHOR)
Vogt, Daniel L. (AUTHOR)
Bupp, Caleb P. (AUTHOR)
Edgerly, Yvonne M. (AUTHOR)
Rajasekaran, Surender (AUTHOR)
Hartog, Nicholas L. (AUTHOR)
Prokop, Jeremy W. (AUTHOR)
Krueger, Jena M. (AUTHOR)
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Źródło:
BioTech. Mar2024, Vol. 13 Issue 1, p1. 31p.
Czasopismo naukowe
Tytuł:
Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1–3 patients treated with nusinersen.
Autorzy:
Šimić, Goran (AUTHOR)
Vukić, Vana (AUTHOR)
Babić, Marija (AUTHOR)
Banović, Maria (AUTHOR)
Berečić, Ivana (AUTHOR)
Španić, Ena (AUTHOR)
Zubčić, Klara (AUTHOR)
Golubić, Anja Tea (AUTHOR)
Barišić Kutija, Marija (AUTHOR)
Merkler Šorgić, Ana (AUTHOR)
Vogrinc, Željka (AUTHOR)
Lehman, Ivan (AUTHOR)
Hof, Patrick R. (AUTHOR)
Sertić, Jadranka (AUTHOR)
Barišić, Nina (AUTHOR)
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Źródło:
CNS Neuroscience & Therapeutics. Mar2024, Vol. 30 Issue 3, p1-11. 11p.
Czasopismo naukowe
Tytuł:
Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy.
Autorzy:
Brown, Laurey (AUTHOR)
Hoffman, Katie (AUTHOR)
Corbo-Galli, Chiara (AUTHOR)
Dong, Siyuan (AUTHOR)
Zumpf, Katelyn (AUTHOR)
Weigel, Christa (AUTHOR)
Blomgren, Colleen (AUTHOR)
Munson, Hannah (AUTHOR)
Bidwell, Jessa (AUTHOR)
Rao, Vamshi (AUTHOR)
Kuntz, Nancy L. (AUTHOR)
Schwaede, Abigail (AUTHOR)
Krosschell, Kristin J. (AUTHOR)
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Źródło:
Journal of Clinical Medicine. Feb2024, Vol. 13 Issue 4, p921. 15p.
Czasopismo naukowe
Tytuł:
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Autorzy:
Ghasemi, Mohammad-Reza (AUTHOR)
Tehrani Fateh, Sahand (AUTHOR)
Moeinafshar, Aysan (AUTHOR)
Sadeghi, Hossein (AUTHOR)
Karimzadeh, Parvaneh (AUTHOR)
Mirfakhraie, Reza (AUTHOR)
Rezaei, Mitra (AUTHOR)
Hashemi-Gorji, Farzad (AUTHOR)
Rezvani Kashani, Morteza (AUTHOR)
Fazeli Bavandpour, Fatemehsadat (AUTHOR)
Bagheri, Saman (AUTHOR)
Moghimi, Parinaz (AUTHOR)
Rostami, Masoumeh (AUTHOR)
Madannejad, Rasoul (AUTHOR)
Roudgari, Hassan (AUTHOR)
Miryounesi, Mohammad (AUTHOR)
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Źródło:
BMC Medical Genomics. 2/13/2024, Vol. 17 Issue 1, p1-28. 28p.
Czasopismo naukowe
Tytuł:
Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis.
Autorzy:
Rizvi, Saira Batool (AUTHOR)
Ahmed, Hafsa (AUTHOR)
Zaman, Arbaz (AUTHOR)
Ali, Ameenudeen Mohammed Nushrath (AUTHOR)
Shah, Hussain Haider (AUTHOR)
Rauf, Sameer Abdul (AUTHOR)
Dave, Tirth (AUTHOR)
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Źródło:
Clinical Case Reports. Feb2024, Vol. 12 Issue 2, p1-5. 5p.
Czasopismo naukowe
Tytuł:
Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol.
Autorzy:
Rebollo, Pablo (AUTHOR)
García-López, Sofía (AUTHOR)
Povedano, Mónica (AUTHOR)
Cattinari, María G. (AUTHOR)
Martínez-Moreno, Mercedes (AUTHOR)
Terrancle, Ángeles (AUTHOR)
Cabello-Moruno, Rosana (AUTHOR)
Vázquez-Costa, Juan F. (AUTHOR)
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Źródło:
Neurology & Therapy. Feb2024, Vol. 13 Issue 1, p233-249. 17p.
Czasopismo naukowe
Tytuł:
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Autorzy:
Salort-Campana, Emmanuelle (AUTHOR)
Solé, Guilhem (AUTHOR)
Magot, Armelle (AUTHOR)
Tard, Céline (AUTHOR)
Noury, Jean-Baptiste (AUTHOR)
Behin, Anthony (AUTHOR)
De La Cruz, Elisa (AUTHOR)
Boyer, François (AUTHOR)
Lefeuvre, Claire (AUTHOR)
Masingue, Marion (AUTHOR)
Debergé, Louise (AUTHOR)
Finet, Armelle (AUTHOR)
Brison, Mélanie (AUTHOR)
Spinazzi, Marco (AUTHOR)
Pegat, Antoine (AUTHOR)
Sacconi, Sabrina (AUTHOR)
Malfatti, Edoardo (AUTHOR)
Choumert, Ariane (AUTHOR)
Bellance, Rémi (AUTHOR)
Bedat-Millet, Anne-Laure (AUTHOR)
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Źródło:
Orphanet Journal of Rare Diseases. 1/24/2024, Vol. 19 Issue 1, p1-13. 13p.
Czasopismo naukowe
Tytuł:
Neurophysiological Evaluation of Autonomic Dysfunction in Spinal Muscular Atrophy: A Case-Control Study.
Autorzy:
Papadopoulou, Marianna (AUTHOR)
Zompola, Christina (AUTHOR)
Papagiannopoulou, Georgia (AUTHOR)
Theodorou, Aikaterini (AUTHOR)
Zouvelou, Vasiliki (AUTHOR)
Papadimas, George K. (AUTHOR)
Moschovos, Christos (AUTHOR)
Tsivgoulis, Georgios (AUTHOR)
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Źródło:
Acta Neurologica Scandinavica. 1/8/2024, p1-6. 6p.
Czasopismo naukowe

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