PMC Articles for MedGen (Select 814369) - PMC

Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti

Front Neurol. 2024; 15: 1340693. Published online 2024 Mar 4. doi: 10.3389/fneur.2024.1340693

PMCID:: PMC10944937

Abstract Article PDF–4.0M

Select item 108743374.

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center

Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqian

Acta Neurol Belg. 2024; 124(1): 91–99. Published online 2023 Jul 31. doi: 10.1007/s13760-023-02333-8

PMCID:: PMC10874337

Abstract Article PDF–933K

Select item 108251635.

Damage to the orbicularis oculi muscle may impair the development of dermatochalasis

Larysa Krajewska-Węglewicz, Paulina Felczak, Dariusz Adamek, Małgorzata Dorobek

Sci Rep. 2024; 14: 2417. Published online 2024 Jan 29. doi: 10.1038/s41598-024-52955-y

PMCID:: PMC10825163

Abstract Article PDF–1.3M

Select item 108000176.

Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy

Yun Liu, Weichun Lin

Hum Mol Genet. 2024 Feb 1; 33(3): 233–244. Published online 2023 Oct 26. doi: 10.1093/hmg/ddad183

PMCID:: PMC10800017

Abstract Article PDF–1.9M

Select item 107902047.

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant

Dipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Ana Töpf, Aneesha Thomas, Sai Bhargava Sanka, Deepak Menon, Kosha Srivastava, Gautham Arunachal, Bevinahalli N. Nandeesh, Hanns Lochmüller, Atchayaram Nalini

Neurol Genet. 2024 Feb; 10(1): e200122. Published online 2024 Jan 3. doi: 10.1212/NXG.0000000000200122

PMCID:: PMC10790204

Abstract Article PDF–386K

Select item 107782728.

Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns

Keerthika Lohanadan, Marvin Assent, Anja Linnemann, Julia Schuld, Lukas C. Heukamp, Karsten Krause, Matthias Vorgerd, Jens Reimann, Anne Schänzer, Gregor Kirfel, Dieter O. Fürst, Peter F. M. Van der Ven

Cells. 2024 Jan; 13(1): 85. Published online 2023 Dec 30. doi: 10.3390/cells13010085

PMCID:: PMC10778272

Abstract Article PDF–17M

Select item 107408119.

Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies

Rocío Piñero-Pérez, Alejandra López-Cabrera, Mónica Álvarez-Córdoba, Paula Cilleros-Holgado, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, David Gómez-Fernández, Diana Reche-López, Ana Romero-González, José Manuel Romero-Domínguez, Rocío M. de Pablos, José A. Sánchez-Alcázar

Antioxidants (Basel) 2023 Dec; 12(12): 2023. Published online 2023 Nov 21. doi: 10.3390/antiox12122023

PMCID:: PMC10740811

Abstract Article PDF–9.0M

Select item 1057820910.

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

Katarina Pelin, Lydia Sagath, Johanna Lehtonen, Kirsi Kiiski, Olli Tynninen, Anders Paetau, Mridul Johari, Marco Savarese, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari

J Neuromuscul Dis. 2023; 10(5): 977–984. Prepublished online 2023 Jun 27. Published online 2023 Sep 8. doi: 10.3233/JND-230026

PMCID:: PMC10578209

Abstract Article PDF–431K

Select item 1054827811.

Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy

Rebecca A. Slick, Jennifer A. Tinklenberg, Jessica Sutton, Liwen Zhang, Hui Meng, Margaret J. Beatka, Mark Vanden Avond, Mariah J. Prom, Emily Ott, Federica Montanaro, James Heisner, Rafael Toro, Henk Granzier, Aron M. Geurts, David F. Stowe, R. Blake Hill, Michael W. Lawlor

Am J Pathol. 2023 Oct; 193(10): 1528–1547. doi: 10.1016/j.ajpath.2023.06.009

PMCID:: PMC10548278

Abstract Article PDF–4.3M

Select item 1027354512.

Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment

Anirban Nandy, Hatice Tankisi, Anne Bruun Krøigård, Maiken Glud Dalager, Marie Skov Hvidbjerg, Henrik Daa Schrøder, Izabella Obál

BMC Neurol. 2023; 23: 233. Published online 2023 Jun 16. doi: 10.1186/s12883-023-03283-7

PMCID:: PMC10273545

Abstract Article PDF–1.6M

Select item 1016373913.

HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report

Eiji Matsuura, Satoshi Nozuma, Ayano Shigehisa, Mika Dozono, Tomonori Nakamura, Masakazu Tanaka, Ryuji Kubota, Akihiro Hashiguchi, Hiroshi Takashima

BMC Musculoskelet Disord. 2023; 24: 355. Published online 2023 May 6. doi: 10.1186/s12891-023-06461-3

PMCID:: PMC10163739

Abstract Article PDF–1.1M

Select item 999343414.

ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of Nemaline Myopathy

Melanie Gartz, Margaret Haberman, Jessica Sutton, Rebecca A. Slick, Shawn M. Luttrell, David L. Mack, Michael W. Lawlor

Exp Cell Res. Author manuscript; available in PMC 2024 Mar 15.

Published in final edited form as: Exp Cell Res. 2023 Mar 15; 424(2): 113507. Published online 2023 Feb 14. doi: 10.1016/j.yexcr.2023.113507

PMCID:: PMC9993434

Abstract Article PDF–1.4M

Select item 987897915.

Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies

Stefan Nicolau, Aneesha Dasgupta, Surendra Dasari, M. Cristine Charlesworth, Kenneth L. Johnson, Akhilesh Pandey, Jason D. Doles, Margherita Milone

Acta Neuropathol Commun. 2023; 11: 20. Published online 2023 Jan 26. doi: 10.1186/s40478-023-01518-9

PMCID:: PMC9878979

Abstract Article PDF–8.4M

Select item 927125616.

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero

Acta Neuropathol Commun. 2022; 10: 101. Published online 2022 Jul 9. doi: 10.1186/s40478-022-01400-0

PMCID:: PMC9271256

Abstract Article PDF–4.2M

Select item 917066017.

Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center

Xi Yin, Chuanqiang Pu, Zhenfu Wang, Ke Li, HuiFang Wang

Acta Neurol Belg. 2022; 122(3): 631–639. Published online 2021 Mar 19. doi: 10.1007/s13760-020-01542-9

PMCID:: PMC9170660

Abstract Article PDF–1.1M

Select item 912803618.

Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti–α-Actinin Immunostaining

Bing Zhao, Tingjun Dai, Dandan Zhao, Xiaotian Ma, Cuiping Zhao, Ling Li, Yuan Sun, Yongqing Zhang, Yaping Yan, Jian-Qiang Lu, Fuchen Liu, Chuanzhu Yan

Neurol Neuroimmunol Neuroinflamm. 2022 Jul; 9(4): e1184. Published online 2022 May 17. doi: 10.1212/NXI.0000000000001184

PMCID:: PMC9128036

Abstract Article PDF–984K

Select item 893531419.

Proteomic profiling of sporadic late‐onset nemaline myopathy

Elie Naddaf, Surendra Dasari, Duygu Selcen, M. Cristine Charlesworth, Kenneth L. Johnson, Michelle L. Mauermann, Taxiarchis Kourelis

Ann Clin Transl Neurol. 2022 Mar; 9(3): 391–402. Published online 2022 Feb 20. doi: 10.1002/acn3.51527

PMCID:: PMC8935314

Abstract Article PDF–684K

Select item 893390220.

68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy

Pradhab Kirupaharan, Daniel Kramer, Alan Gandler, Lawrence Kenyon, Ross Summer

BMC Pulm Med. 2022; 22: 97. Published online 2022 Mar 19. doi: 10.1186/s12890-022-01877-4

PMCID:: PMC8933902

Abstract Article PDF–929K

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