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Items: 1 to 20 of 3717

1.
Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene
Wenshu Zeng, Xiaohui Kong, Christina Alamana, Yu Liu, Jessica Guzman, Paul D. Pang, John W. Day, Joseph C. Wu
Stem Cell Res. Author manuscript; available in PMC 2024 May 4.
Published in final edited form as: Stem Cell Res. 2023 Jun; 69: 103095. Published online 2023 Apr 17. doi: 10.1016/j.scr.2023.103095
PMCID:
PMC11068589
ArticlePDF–958K
2.
Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3: The Phase 2 TOPAZ Study
Thomas O. Crawford, Basil T. Darras, John W. Day, Sally Dunaway Young, Tina Duong, Leslie L. Nelson, Doreen Barrett, Guochen Song, Sanela Bilic, Shaun Cote, Mara Sadanowicz, Ryan Iarrobino, Tiina J. Xu, Janet O'Neil, José Rossello, Amy Place, Nathalie Kertesz, George Nomikos, Yung Chyung
Neurology. 2024 Mar 12; 102(5): e209151. Published online 2024 Feb 8. doi: 10.1212/WNL.0000000000209151
PMCID:
PMC11067700
ArticlePDF–783K
3.
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
Neurol Genet. 2024 Jun; 10(3): e200139. Published online 2024 Apr 25. doi: 10.1212/NXG.0000000000200139
Corrects:
Neurol Genet. 2023 Aug; 9(4): e200087.
PMCID:
PMC11057434
CorrectionPDF–48K
4.
脊髓性肌萎缩症家庭康复与护理的研究进展
冷 明月, 彭 宏浩, 吴 至凤
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Apr 15; 26(4): 420–424. Chinese. doi: 10.7499/j.issn.1008-8830.2310037
PMCID:
PMC11057298
ArticlePDF–605K
5.
Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment
S. Brakemeier, J. Lipka, M. Schlag, C. Kleinschnitz, T. Hagenacker
J Neurol. 2024; 271(5): 2649–2657. Published online 2024 Feb 15. doi: 10.1007/s00415-024-12203-9
PMCID:
PMC11055773
ArticlePDF–887K
6.
Evaluation of Cracking Resistance of SMA-13 Hot Recycling Asphalt Mixtures Reinforced by Basalt Fiber
Yu Zhang, Yao Zhang, Bo Li, Aihong Kang, Yu Wang
Materials (Basel) 2024 Apr; 17(8): 1762. Published online 2024 Apr 11. doi: 10.3390/ma17081762
PMCID:
PMC11051508
ArticlePDF–3.3M
7.
Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients
Stephanie Voight, Kapil Arya
Children (Basel) 2024 Apr; 11(4): 495. Published online 2024 Apr 20. doi: 10.3390/children11040495
PMCID:
PMC11049032
ArticlePDF–187K
8.
Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women
Bing-bo Zhou, Xue Chen, Chuan Zhang, Yu-pei Wang, Pan-pan Ma, Sheng-ju Hao, Ling Hui, Yun-fei Bai
Front Neurol. 2024; 15: 1357476. Published online 2024 Apr 9. doi: 10.3389/fneur.2024.1357476
PMCID:
PMC11035774
ArticlePDF–399K
9.
Profound hypoxemia and hypotension during posterior spinal fusion in a spinal muscular atrophy child with severe scoliosis: a case report
Qian Shu, Yulei Dong, Weiyun Chen, Jianxiong Shen
BMC Anesthesiol. 2024; 24: 148. Published online 2024 Apr 18. doi: 10.1186/s12871-024-02537-2
PMCID:
PMC11025142
ArticlePDF–1.9M
10.
105 Burn Injury Severity: Proposed Definitions Based on the National Burn Research Dataset
Jason Heard, Yunyi Ren, Soman Sen, Kathleen S Romanowski, Tina L Palmieri, David G Greenhalgh
J Burn Care Res. 2024 May-Jun; 45(Suppl 1): 85. Published online 2024 Apr 17. doi: 10.1093/jbcr/irae036.104
PMCID:
PMC11023546
AbstractPDF–37K
11.
Respiratory function in adult patients with spinal muscular atrophy treated with nusinersen – a monocenter observational study
Claudia Diana Wurster, Zeljko Uzelac, Jens Dreyhaupt, Joachim Schuster, Johannes Dorst, Albert Christian Ludolph, Kurt Wollinsky
Front Neurol. 2024; 15: 1372674. Published online 2024 Apr 3. doi: 10.3389/fneur.2024.1372674
PMCID:
PMC11021633
ArticlePDF–478K
12.
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III
Mengnan Lu, Xueying Wang, Na Sun, Shaoping Huang, Lin Yang, Dan Li
CNS Neurosci Ther. 2024 Apr; 30(4): e14718. Published online 2024 Apr 14. doi: 10.1111/cns.14718
PMCID:
PMC11016346
ArticlePDF–6.9M
13.
The preliminary analysis of lymphatic flow around the connective tissues surrounding SMA and SpA elucidates patients’ oncological condition in borderline-resectable pancreatic cancer
Hirofumi Akita, Kei Asukai, Yosuke Mukai, Shinichiro Hasegawa, Takeshi Omori, Hiroshi Miyata, Masayuki Ohue, Masato Sakon, Hiroshi Wada, Hidenori Takahashi
BMC Surg. 2024; 24: 107. Published online 2024 Apr 13. doi: 10.1186/s12893-024-02398-z
PMCID:
PMC11015602
ArticlePDF–1.1M
14.
The Friction–Lubrication Effect and Compaction Characteristics of an SMA Asphalt Mixture under Variable Temperature Conditions
Xia Wu, Xiong Tang, Li Liu, Zhaoyi He, Sheng He
Materials (Basel) 2024 Apr; 17(7): 1694. Published online 2024 Apr 7. doi: 10.3390/ma17071694
PMCID:
PMC11012867
ArticlePDF–3.2M
15.
Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen
Pol Andrés-Benito, Juan Francisco Vázquez-Costa, Nancy Carolina Ñungo Garzón, María J. Colomina, Carla Marco, Laura González, Cristina Terrafeta, Raúl Domínguez, Isidro Ferrer, Mónica Povedano
Int J Mol Sci. 2024 Apr; 25(7): 3810. Published online 2024 Mar 29. doi: 10.3390/ijms25073810
PMCID:
PMC11011665
ArticlePDF–2.2M
16.
Fatigue in Spinal Muscular Atrophy: a fundamental open issue
Oscar Crisafulli, Angela Berardinelli, Giuseppe D’Antona
Acta Myol. 2024; 43(1): 1–7. Published online 2024 Mar 31. doi: 10.36185/2532-1900-402
PMCID:
PMC10997038
ArticlePDF–140K
17.
Neurophysiological Characteristics in Type II and Type III 5q Spinal Muscular Atrophy Patients: Impact of Nusinersen Treatment
Dan Li, Na Sun, Li Xiang, Jingjie Liu, Xueying Wang, Lin Yang, Shaoping Huang
Drug Des Devel Ther. 2024; 18: 953–965. Published online 2024 Mar 28. doi: 10.2147/DDDT.S449066
PMCID:
PMC10984209
ArticlePDF–3.0M
18.
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
Laurent Servais, John W. Day, Darryl C. De Vivo, Janbernd Kirschner, Eugenio Mercuri, Francesco Muntoni, Crystal M. Proud, Perry B. Shieh, Eduardo F. Tizzano, Susana Quijano-Roy, Isabelle Desguerre, Kayoko Saito, Eric Faulkner, Kamal M. Benguerba, Dheeraj Raju, Nicole LaMarca, Rui Sun, Frederick A. Anderson, Richard S. Finkel
J Neuromuscul Dis. 2024; 11(2): 425–442. Prepublished online 2024 Jan 18. Published online 2024 Mar 5. doi: 10.3233/JND-230122
PMCID:
PMC10977451
ArticlePDF–451K
19.
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing
Jana Zang, Stefanie Witt, Jessika Johannsen, Deike Weiss, Jonas Denecke, Charlotte Dumitrascu, Almut Nießen, Julia Hannah Quitmann, Christina Pflug, Till Flügel
J Neuromuscul Dis. 2024; 11(2): 473–483. Prepublished online 2024 Mar 1. Published online 2024 Mar 5. doi: 10.3233/JND-230177
PMCID:
PMC10977442
ArticlePDF–366K
20.
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain
Nikki Cornell, Anne-Marie Childs, Elizabeth Wraige, Pinki Munot, Gautam Ambegaonkar, Gabriel Chow, Imelda Hughes, Marjorie Illingworth, Anirban Majumdar, Chiara Marini-Bettolo, Deepak Parasuraman, Stefan Spinty, Tracey Willis, Mariacristina Scoto, Giovanni Baranello, On Behalf of the Paediatric UK Risdiplam EAMS Working Group
J Neuromuscul Dis. 2024; 11(2): 361–368. Prepublished online 2024 Jan 4. Published online 2024 Mar 5. doi: 10.3233/JND-230162
PMCID:
PMC10977425
ArticlePDF–72K

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