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Items: 1 to 20 of 77

1.
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy
Megan E. Forrest, Alayne P. Meyer, Stephanie M. Laureano Figueroa, Anthony Antonellis
Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006246. doi: 10.1101/mcs.a006246
PMCID:
PMC9808560
AbstractArticlePDF–1.9M
2.
Intermediate Filament Diseases: Desminopathy
Lev G. Goldfarb, Montse Olivé, Patrick Vicart, Hans H. Goebel
Adv Exp Med Biol. Author manuscript; available in PMC 2009 Nov 12.
Published in final edited form as: Adv Exp Med Biol. 2008; 642: 131–164. doi: 10.1007/978-0-387-84847-1_11
PMCID:
PMC2776705
AbstractArticlePDF–6.2M
3.
What influences stroke survivors with physical disabilities to be physically active? A qualitative study informed by the Theoretical Domains Framework
L. K. Kwah, K. Doshi, D. A. De Silva, W. M. Ng, S. Thilarajah
PLoS One. 2024; 19(3): e0292442. Published online 2024 Mar 28. doi: 10.1371/journal.pone.0292442
PMCID:
PMC10977677
AbstractArticlePDF–968K
4.
Polymer architecture effect on rheology and segmental dynamics in poly (methyl methacrylate)-silica nanocomposite melts
Saeid DARVISHI, Erkan ŞENSES
Turk J Chem. 2023; 47(4): 749–762. Published online 2023 Jun 23. doi: 10.55730/1300-0527.3576
PMCID:
PMC10760588
AbstractArticlePDF–3.4M
5.
Myoelectric Arm Orthosis Assists Functional Activities: A 3-Month Home Use Outcome Report
Sarah R. Chang, Nicole Hofland, Zhengyi Chen, Curtis Tatsuoka, Lorie G. Richards, Margaretta Bruestle, Harry Kovelman, Jonathan Naft
Arch Rehabil Res Clin Transl. 2023 Sep; 5(3): 100279. Published online 2023 Jul 13. doi: 10.1016/j.arrct.2023.100279
PMCID:
PMC10517359
AbstractArticlePDF–1.2M
6.
Cervical Root Enlargement in Segmental Zoster Paresis: A Study with Magnetic Resonance Imaging and Nerve Ultrasound
Shinichi Wada, Hirohisa Hirano, Naoko Uehara, Yuri Kurotobi, Koji Tsuzaki, Naoko Takamatsu, Masaaki Fujita, Toshiaki Hamano
Intern Med. 2022 Aug 1; 61(15): 2361–2365. Published online 2022 Jan 13. doi: 10.2169/internalmedicine.8538-21
PMCID:
PMC9424074
AbstractArticlePDF–788K
7.
Why the patients with Hirayama disease have abnormal cervical sagittal alignment? A radiological measurement analysis of posterior cervical extensors
Ye Tian, Lin Xie, Jianyuan Jiang, Hongli Wang
J Orthop Surg Res. 2022; 17: 19. Published online 2022 Jan 15. doi: 10.1186/s13018-021-02905-5
PMCID:
PMC8760638
AbstractArticlePDF–1.3M
8.
Comprehensive metabolic flux analysis to explain skeletal muscle weakness in COPD
Mariëlle P.K.J. Engelen, Renate Jonker, John J. Thaden, Gabriella A.M. Ten Have, Moon Sun Jeon, Srinivasan Dasarathy, Nicolaas E.P. Deutz
Clin Nutr. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Clin Nutr. 2020 Oct; 39(10): 3056–3065. Published online 2020 Jan 29. doi: 10.1016/j.clnu.2020.01.010
PMCID:
PMC7387164
AbstractArticlePDF–648K
9.
Assessment of disability and quality of life among ceramic industry workers
Willians Cassiano Longen, Liana Pereira Barcelos, Khaterin Kalane Karkle, Felipe da Silva Schutz, Samira da Silva Valvassori, Eduardo Ghisi Victor, Paula Rohr, Kristian Madeira
Rev Bras Med Trab. 2018; 16(1): 10–18. Published online 2018 Mar 1. doi: 10.5327/Z1679443520180113
PMCID:
PMC7104814
AbstractArticlePDF–138K
10.
Stroke 112: A universal stroke awareness program to reduce language and response barriers
Jing Zhao, Maryellen F. Eckenhoff, Wei-Zen Sun, Renyu Liu
Stroke. Author manuscript; available in PMC 2019 Jul 1.
Published in final edited form as: Stroke. 2018 Jul; 49(7): 1766–1769. Published online 2018 Jun 20. doi: 10.1161/STROKEAHA.118.021729
PMCID:
PMC6034704
AbstractArticlePDF–835K
11.
Highly wearable cuff-less blood pressure and heart rate monitoring with single-arm electrocardiogram and photoplethysmogram signals
Qingxue Zhang, Dian Zhou, Xuan Zeng
Biomed Eng Online. 2017; 16: 23. Published online 2017 Feb 6. doi: 10.1186/s12938-017-0317-z
PMCID:
PMC5294811
AbstractArticlePDF–1.8M
12.
Natural variation and genetic loci underlying resistance to grain shattering in standing crop of modern wheat
Livinus Emebiri, Shane Hildebrand
Mol Genet Genomics. 2023; 298(5): 1211–1224. Published online 2023 Jul 6. doi: 10.1007/s00438-023-02051-z
PMCID:
PMC10363068
AbstractArticlePDF–2.3M
13.
Exercise and epigenetic ages in older adults with myeloid malignancies
Kah Poh Loh, Chandrika Sanapala, Marielle Jensen-Battaglia, Anish Rana, Michael B. Sohn, Erin Watson, Nikesha Gilmore, Heidi D. Klepin, Jason H. Mendler, Jane Liesveld, Eric Huselton, Marissa LoCastro, Martha Susiarjo, Colleen Netherby-Winslow, AnnaLynn M. Williams, Karen Mustian, Paula Vertino, Michelle C. Janelsins
Eur J Med Res. 2023; 28: 180. Published online 2023 May 30. doi: 10.1186/s40001-023-01145-z
PMCID:
PMC10227405
AbstractArticlePDF–1.4M
14.
Parkinsonism may aggravate dysphagia in myotonic dystrophy type 1: two case reports
Salvatore Stano, Andrea Barp, Ruggero Bacchin, Riccardo Zuccarino
Acta Myol. 2023; 42(1): 31–34. Published online 2023 Mar 31. doi: 10.36185/2532-1900-247
PMCID:
PMC10115395
AbstractArticlePDF–168K
15.
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders
Pitcha Chompoopong, Margherita Milone
Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372
PMCID:
PMC9956253
AbstractArticlePDF–10M
16.
The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy
Eleonora Diella, Antonella LoMauro, Morena Delle Fave, Rossella Cima, Maria Grazie D’Angelo
Acta Myol. 2022; 41(4): 207–211. Published online 2022 Dec 31. doi: 10.36185/2532-1900-084
PMCID:
PMC9896594
AbstractArticlePDF–376K
17.
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report
Antoine Pegat, Nathalie Streichenberger, Nicolas Lacoste, Marc Hermier, Rita Menassa, Laurent Coudert, Julian Theuriet, Roseline Froissart, Sophie Terrone, Francoise Bouhour, Laurence Michel-Calemard, Laurent Schaeffer, Arnaud Jacquier
Genes (Basel) 2022 Dec; 13(12): 2245. Published online 2022 Nov 29. doi: 10.3390/genes13122245
PMCID:
PMC9777698
AbstractArticlePDF–915K
18.
Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case
Bruno Lamanna, Marina Vinciguerra, Miriam Dellino, Gabriele Cascella, Gerardo Cazzato, Enrica Macorano, Antonio Malvasi, Salvatore Scacco, Ettore Cicinelli, Vera Loizzi, Antonella Vimercati, Gennaro Cormio, Francesco Paduano, Eliano Cascardi, Marco Tatullo
Int J Mol Sci. 2022 Nov; 23(22): 14408. Published online 2022 Nov 19. doi: 10.3390/ijms232214408
PMCID:
PMC9692496
AbstractArticlePDF–640K
19.
Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies
Meredith K James, Lindsay N Alfano, Robert Muni-Lofra, Natalie F Reash, Jassi Sodhi, Megan A Iammarino, Dionne Moat, Kianna Shannon, Michelle McCallum, Mark Richardson, Michelle Eagle, Volker Straub, Chiara Marini-Bettolo, Linda P Lowes, Anna G Mayhew
Phys Ther. 2022 Oct; 102(10): pzac113. Published online 2022 Aug 6. doi: 10.1093/ptj/pzac113
PMCID:
PMC9586158
AbstractArticle
20.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
Jorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J Vílchez, Mario Emilio Dourado, Naz Kadem, Gultekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O Crawford, Xavier Suárez-Calvet, Ana Töpf, Michela Guglieri, Chiara Marini-Bettolo, Pia Gallano, Volker Straub, Jordi Díaz-Manera
Brain. 2022 Feb; 145(2): 596–606. Published online 2021 Sep 13. doi: 10.1093/brain/awab301
PMCID:
PMC9014751
AbstractArticlePDF–1.0M

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