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Select item 98833211.

Artificial intelligence-based volumetric analysis of muscle atrophy and fatty degeneration in patients with hip osteoarthritis and its correlation with health-related quality of life

Makoto Iwasa, Masaki Takao, Mazen Soufi, Keisuke Uemura, Yoshito Otake, Hidetoshi Hamada, Yoshinobu Sato, Nobuhiko Sugano, Seiji Okada

Int J Comput Assist Radiol Surg. 2023; 18(1): 71–78. Published online 2022 Dec 26. doi: 10.1007/s11548-022-02797-8

PMCID:: PMC9883321

Article PDF–2.3M

Select item 95300772.

Blood flow restriction added to usual care exercise in patients with early weight bearing restrictions after cartilage or meniscus repair in the knee joint: a feasibility study

Thomas Linding Jakobsen, Kristian Thorborg, Jakob Fisker, Thomas Kallemose, Thomas Bandholm

J Exp Orthop. 2022 Dec; 9: 101. Published online 2022 Oct 4. doi: 10.1186/s40634-022-00533-4

PMCID:: PMC9530077

Article PDF–2.4M

Select item 64943833.

A case report of cyclosporine-induced myopathy with subacute muscular atrophy as initial presentation

Hongyun Ding, Zhen Li, Jianbin Zhang

Medicine (Baltimore) 2019 Apr; 98(16): e15206. Published online 2019 Apr 19. doi: 10.1097/MD.0000000000015206

PMCID:: PMC6494383

Article PDF–715K

Select item 44157564.

Isokinetic dynamometer evaluation of the effects of early thigh diameter difference on thigh muscle strength in patients undergoing anterior cruciate ligament reconstruction with hamstring tendon graft

Bekir Eray Kılınç, Adnan Kara, Savas Camur, Yunus Oc, Haluk Celik

J Exerc Rehabil. 2015 Apr; 11(2): 95–100. Published online 2015 Apr 30. doi: 10.12965/jer.150100

PMCID:: PMC4415756

Article PDF–303K

Select item 31849615.

Evidence of Increased Muscle Atrophy and Impaired Quality of Life Parameters in Patients with Uremic Restless Legs Syndrome

Christoforos D. Giannaki, Giorgos K. Sakkas, Christina Karatzaferi, Georgios M. Hadjigeorgiou, Eleftherios Lavdas, Vassilios Liakopoulos, Nikolaos Tsianas, Georgios N. Koukoulis, Yiannis Koutedakis, Ioannis Stefanidis

PLoS One. 2011; 6(10): e25180. Published online 2011 Oct 3. doi: 10.1371/journal.pone.0025180

PMCID:: PMC3184961

Article PDF–534K

Select item 109632966.

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network , Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann

Ann Clin Transl Neurol. 2024 Mar; 11(3): 629–640. Published online 2024 Feb 4. doi: 10.1002/acn3.51983

PMCID:: PMC10963296

Article PDF–6.8M

Select item 98129377.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Conrad C. Weihl, Ana Töpf, Rocio Bengoechea, Jennifer Duff, Richard Charlton, Solange Kapetanovic Garcia, Cristina Domínguez-González, Abdulaziz Alsaman, Aurelio Hernández-Laín, Luis Varona Franco, Monica Elizabeth Ponce Sanchez, Sarah J Beecroft, Hayley Goullee, Jil Daw, Ankan Bhadra, Heather True, Michio Inoue, Andrew R. Findlay, Nigel Laing, Montse Olivé, Gianina Ravenscroft, Volker Straub

Acta Neuropathol. Author manuscript; available in PMC 2023 Jan 5.

Published in final edited form as: Acta Neuropathol. 2023 Jan; 145(1): 127–143. Published online 2022 Oct 20. doi: 10.1007/s00401-022-02510-8

PMCID:: PMC9812937

Article PDF–2.7M

Select item 98085608.

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

Article PDF–1.9M

Select item 97776989.

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

Article PDF–915K

Select item 969081510.

Genetic and Clinical Spectrum of GNE Myopathy in Russia

Aysylu Murtazina, Sergey Nikitin, Galina Rudenskaya, Inna Sharkova, Artem Borovikov, Peter Sparber, Olga Shchagina, Alena Chukhrova, Oksana Ryzhkova, Olga Shatokhina, Anna Orlova, Vasilisa Udalova, Ilya Kanivets, Sergey Korostelev, Alexander Polyakov, Elena Dadali, Sergey Kutsev

Genes (Basel) 2022 Nov; 13(11): 1991. Published online 2022 Oct 31. doi: 10.3390/genes13111991

PMCID:: PMC9690815

Article PDF–9.3M

Select item 910412211.

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

Christophe E. Depuydt, Veerle Goosens, Rekin’s Janky, Ann D’Hondt, Jan L. De Bleecker, Nathalie Noppe, Stefaan Derveaux, Dietmar R. Thal, Kristl G. Claeys

Cells. 2022 May; 11(9): 1508. Published online 2022 Apr 30. doi: 10.3390/cells11091508

PMCID:: PMC9104122

Article PDF–18M

Select item 896853212.

Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)

Iqra Aziz, Mark Davis, Christina Liang

BMJ Case Rep. 2022; 15(3): e248297. Published online 2022 Mar 29. doi: 10.1136/bcr-2021-248297

PMCID:: PMC8968532

Article PDF–654K

Select item 868563113.

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

Menelaos Pipis, Andrea Cortese, James M Polke, Roy Poh, Jana Vandrovcova, Matilde Laura, Mariola Skorupinska, Arnaud Jacquier, Raul Juntas-Morales, Philippe Latour, Philippe Petiot, Guilhem Sole, Yves Fromes, Sachit Shah, Julian Blake, Byung-Ok Choi, Ki Wha Chung, Tanya Stojkovic, Alexander M Rossor, Mary M Reilly

J Neurol Neurosurg Psychiatry. 2022 Jan; 93(1): 48–56. Published online 2021 Sep 13. doi: 10.1136/jnnp-2021-327186

PMCID:: PMC8685631

Article PDF–1.6M

Select item 760086214.

Small-Molecule Chemical Knockdown of MuRF1 in Melanoma Bearing Mice Attenuates Tumor Cachexia Associated Myopathy

Volker Adams, Victoria Gußen, Sergey Zozulya, André Cruz, Anselmo Moriscot, Axel Linke, Siegfried Labeit

Cells. 2020 Oct; 9(10): 2272. Published online 2020 Oct 11. doi: 10.3390/cells9102272

PMCID:: PMC7600862

Article PDF–1.7M

Select item 743473815.

Edmond Wonkam‐Tingang, Séraphin Nguefack, Alina I. Esterhuizen, David Chelo, Ambroise Wonkam

Mol Genet Genomic Med. 2020 Aug; 8(8): e1362. Published online 2020 Jun 15. doi: 10.1002/mgg3.1362

PMCID:: PMC7434738

Article PDF–910K

Select item 689308816.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Aashim Bhatia, Bret C. Mobley, Joy Cogan, Mary E. Koziura, Elly Brokamp, John Phillips, John Newman, Undiagnosed Diseases Network (UDN), Steven A. Moore, Rizwan Hamid, Undiagnosed Diseases Network

Clin Imaging. Author manuscript; available in PMC 2019 Dec 5.

Published in final edited form as: Clin Imaging. 2019 Nov-Dec; 58: 108–113. Published online 2019 Jun 21. doi: 10.1016/j.clinimag.2019.06.010

PMCID:: PMC6893088

Article PDF–946K

Select item 681938917.

Sinensetin regulates age-related sarcopenia in cultured primary thigh and calf muscle cells

Jin-A Kim, Seong Min Kim, Sang Eun Ha, Preethi Vetrivel, Venu Venkatarame Gowda Saralamma, Eun Hee Kim, Gon Sup Kim

BMC Complement Altern Med. 2019; 19: 287. Published online 2019 Oct 28. doi: 10.1186/s12906-019-2714-2

PMCID:: PMC6819389

Article PDF–2.5M

Select item 669792518.

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report

Juanjuan Chen, Jun Wu, Chunxi Han, Yao Li, Yuzu Guo, Xiaoxin Tong

BMC Neurol. 2019; 19: 198. Published online 2019 Aug 17. doi: 10.1186/s12883-019-1410-7

PMCID:: PMC6697925

Article PDF–1.6M

Select item 637335219.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Markus T. Sainio, Salla Välipakka, Bruno Rinaldi, Helena Lapatto, Anders Paetau, Simo Ojanen, Virginia Brilhante, Manu Jokela, Sanna Huovinen, Mari Auranen, Johanna Palmio, Sylvie Friant, Emil Ylikallio, Bjarne Udd, Henna Tyynismaa

J Neurol. 2019; 266(2): 353–360. Published online 2018 Dec 4. doi: 10.1007/s00415-018-9137-8

PMCID:: PMC6373352

Article PDF–1.1M

Select item 616021720.

First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features

Bolin Hu, Li Xiong, Yibiao Zhou, Xiaoqing Lu, Qianqian Xiong, Qing Liu, Xueliang Qi, Weijiang Ding

Medicine (Baltimore) 2018 Sep; 97(38): e12506. Published online 2018 Sep 21. doi: 10.1097/MD.0000000000012506

PMCID:: PMC6160217

Article PDF–595K

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