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Select item 90256341.

Antiviral Efficacy of Selected Natural Phytochemicals against SARS-CoV-2 Spike Glycoprotein Using Structure-Based Drug Designing

Bandar Hamad Aloufi, Mejdi Snoussi, Abdel Moneim E. Sulieman

Molecules. 2022 Apr; 27(8): 2401. Published online 2022 Apr 8. doi: 10.3390/molecules27082401

PMCID:: PMC9025634

Abstract Article PDF–3.1M

Select item 85765172.

Discovery of Novel Inhibitors From Medicinal Plants for V-Domain Ig Suppressor of T-Cell Activation

Iqra Muneer, Sajjad Ahmad, Anam Naz, Sumra Wajid Abbasi, Adel Alblihy, Abdulaziz A. Aloliqi, Faris F. Aba Alkhayl, Faris Alrumaihi, Sarfraz Ahmad, Youness El Bakri, Muhammad Tahir Ul Qamar

Front Mol Biosci. 2021; 8: 716735. Published online 2021 Oct 26. doi: 10.3389/fmolb.2021.716735

PMCID:: PMC8576517

Abstract Article PDF–2.2M

Select item 85522853.

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

Peter Hackman, Salla M. Rusanen, Mridul Johari, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Kati Donner, Päivi Lahermo, Sampo Koivunen, Helena Luque, Merja Soininen, Ibrahim Mahjneh, Mari Auranen, Meharji Arumilli, Marco Savarese, Bjarne Udd

Neurol Genet. 2021 Dec; 7(6): e632. Published online 2021 Oct 27. doi: 10.1212/NXG.0000000000000632

PMCID:: PMC8552285

Abstract Article PDF–880K

Select item 79621074.

Structure-Based Virtual Screening Identifies Multiple Stable Binding Sites at the RecA Domains of SARS-CoV-2 Helicase Enzyme

Sajjad Ahmad, Yasir Waheed, Saba Ismail, Saadia Bhatti, Sumra Wajid Abbasi, Khalid Muhammad

Molecules. 2021 Mar; 26(5): 1446. Published online 2021 Mar 7. doi: 10.3390/molecules26051446

PMCID:: PMC7962107

Abstract Article PDF–3.7M

Select item 78653865.

Computational Determination of Potential Multiprotein Targeting Natural Compounds for Rational Drug Design Against SARS-COV-2

Ziyad Tariq Muhseen, Alaa R. Hameed, Halah M. H. Al-Hasani, Sajjad Ahmad, Guanglin Li

Molecules. 2021 Feb; 26(3): 674. Published online 2021 Jan 28. doi: 10.3390/molecules26030674

PMCID:: PMC7865386

Abstract Article PDF–4.0M

Select item 75495866.

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck

Mol Genet Genomic Med. 2020 Oct; 8(10): e1460. Published online 2020 Aug 20. doi: 10.1002/mgg3.1460

PMCID:: PMC7549586

Abstract Article PDF–884K

Select item 54455847.

An alanine expanded PABPN1 causes increased utilization of intronic polyadenylation sites

Tooba Abbassi-Daloii, Soheil Yousefi, Eleonora de Klerk, Laurens Grossouw, Muhammad Riaz, Peter A. C. ’t Hoen, Vered Raz

NPJ Aging Mech Dis. 2017; 3: 6. Published online 2017 Apr 7. doi: 10.1038/s41514-017-0007-x

PMCID:: PMC5445584

Abstract Article PDF–1.3M

Select item 111263848.

New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder

Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid

J Hum Genet. 2024; 69(6): 263–270. Published online 2024 Mar 8. doi: 10.1038/s10038-024-01236-7

PMCID:: PMC11126384

Abstract Article PDF–1.9M

Select item 109872909.

GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation

Carolin T Neu, Linus Weilepp, Kaya Bork, Astrid Gesper, Rüdiger Horstkorte

Glycobiology. 2024 Mar; 34(3): cwae004. Published online 2024 Jan 15. doi: 10.1093/glycob/cwae004

PMCID:: PMC10987290

Abstract Article PDF–1.8M

Select item 1096826510.

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Saeed Anwar, Toshifumi Yokota

Biomolecules. 2024 Mar; 14(3): 256. Published online 2024 Feb 21. doi: 10.3390/biom14030256

PMCID:: PMC10968265

Abstract Article PDF–2.8M

Select item 1096329611.

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

Abstract Article PDF–6.8M

Select item 1087059312.

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev

BMC Musculoskelet Disord. 2024; 25: 146. Published online 2024 Feb 16. doi: 10.1186/s12891-024-07270-y

PMCID:: PMC10870593

Abstract Article PDF–2.0M

Select item 1085226013.

Growth deficiency and enhanced basal immunity in Arabidopsis thaliana mutants of EDM2, EDM3 and IBM2 are genetically interlinked

Jianqiang Wang, Thomas Eulgem

PLoS One. 2024; 19(2): e0291705. Published online 2024 Feb 8. doi: 10.1371/journal.pone.0291705

PMCID:: PMC10852260

Abstract Article PDF–3.0M

Select item 1059188014.

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy

Valeria Runfola, Roberto Giambruno, Claudia Caronni, Maria Pannese, Annapaola Andolfo, Davide Gabellini

Cell Rep. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: Cell Rep. 2023 Sep 26; 42(9): 113120. Published online 2023 Sep 12. doi: 10.1016/j.celrep.2023.113120

PMCID:: PMC10591880

Abstract Article PDF–2.1M

Select item 1035720615.

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan

Naoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki

J Neuromuscul Dis. 2023; 10(4): 555–566. Prepublished online 2023 Apr 25. Published online 2023 Jul 4. doi: 10.3233/JND-230029

PMCID:: PMC10357206

Abstract Article PDF–464K

Select item 1035147216.

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

Barbara Tedesco, Leen Vendredy, Elias Adriaenssens, Marta Cozzi, Bob Asselbergh, Valeria Crippa, Riccardo Cristofani, Paola Rusmini, Veronica Ferrari, Elena Casarotto, Marta Chierichetti, Francesco Mina, Paola Pramaggiore, Mariarita Galbiati, Margherita Piccolella, Jonathan Baets, Femke Baeke, Riet De Rycke, Vincent Mouly, Tommaso Laurenzi, Ivano Eberini, Anna Vihola, Bjarne Udd, Lan Weiss, Virginia Kimonis, Vincent Timmerman, Angelo Poletti

Autophagy. 2023; 19(8): 2217–2239. Published online 2023 Feb 28. doi: 10.1080/15548627.2023.2179780

PMCID:: PMC10351472

Abstract Article PDF–5.9M

Select item 1034516017.

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research, Michael Regnier, Michael J. Bamshad

HGG Adv. 2023 Jul 13; 4(3): 100213. Published online 2023 Jun 15. doi: 10.1016/j.xhgg.2023.100213

PMCID:: PMC10345160

Abstract Article PDF–3.9M

Select item 1017543318.

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, Pontus LeBlanc, Lauren Versluys, Katie E. Copley, Jack D. Rubien, Christopher Altheimer, Myra Peetermans, Elke Debackere, Olivier Vanakker, Sandra Janssens, Jonathan Baets, Kristof Verhoeven, Martin Lammens, Sofie Symoens, Boel De Paepe, Sami J. Barmada, James Shorter, Jan L. De Bleecker, Elke Bogaert, Bart Dermaut

Acta Neuropathol. 2023; 145(6): 793–814. Published online 2023 Mar 31. doi: 10.1007/s00401-023-02565-1

PMCID:: PMC10175433

Abstract Article PDF–6.1M

Select item 1016156519.

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

Zhiyong Chen, Monica Saini, Jasmine Shimin Koh, Gareth Zigui Lim, Nancy Jiaojiao Dang, Kalpana Prasad, Swee Hoon Koh, Karine Su Shan Tay, Ming Lee, Helen Lisa Ong, Yi Zhao, Ankit Tandon, Josiah Yui Huei Chai

BMC Neurol. 2023; 23: 181. Published online 2023 May 5. doi: 10.1186/s12883-023-03225-3

PMCID:: PMC10161565

Abstract Article PDF–1.8M

Select item 1010932220.

Multisystem proteinopathies (MSPs) and MSP‐like disorders: Clinical‐pathological‐molecular spectrum

Pitcha Chompoopong, Björn Oskarsson, Nicolas N. Madigan, Igal Mirman, Jennifer M. Martinez‐Thompson, Teerin Liewluck, Margherita Milone

Ann Clin Transl Neurol. 2023 Apr; 10(4): 632–643. Published online 2023 Mar 1. doi: 10.1002/acn3.51751

PMCID:: PMC10109322

Abstract Article PDF–6.9M

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