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Select item 111878141.

Identification of common mechanisms and biomarkers for dermatomyositis and atherosclerosis based on bioinformatics analysis

Yirong Ma, Junyu Lai, Qiang Wan, Zhengtao Chen, Liqiang Sun, Qinhe Zhang, Chengyan Guan, Qiming Li, Jianguang Wu

Skin Res Technol. 2024 Jun; 30(6): e13808. Published online 2024 Jun 20. doi: 10.1111/srt.13808

PMCID:: PMC11187814

Abstract Article PDF–7.1M

Select item 111049772.

Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Martina G. L. Perego, Noemi Galli, Monica Nizzardo, Alessandra Govoni, Michela Taiana, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

Cell Mol Life Sci. 2020 Sep; 77(17): 3351–3367. Published online 2020 Mar 2. doi: 10.1007/s00018-020-03492-0

PMCID:: PMC11104977

Abstract Article PDF–1.3M

Select item 110990603.

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution

Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot

Sci Rep. 2024; 14: 11225. Published online 2024 May 16. doi: 10.1038/s41598-024-60761-9

PMCID:: PMC11099060

Abstract Article PDF–2.2M

Select item 110846884.

The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease

Nathaniel P. Mohar, Efrem M. Cox, Emily Adelizzi, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Lori L. Wallrath

Int J Mol Sci. 2024 May; 25(9): 4930. Published online 2024 Apr 30. doi: 10.3390/ijms25094930

PMCID:: PMC11084688

Abstract Article PDF–4.1M

Select item 110607305.

A Laing distal myopathy–associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity

Massimo Buvoli, Genevieve C.K. Wilson, Ada Buvoli, Jack F. Gugel, Abbi Hau, Carsten G. Bönnemann, Carmen Paradas, David M. Ryba, Kathleen C. Woulfe, Lori A. Walker, Tommaso Buvoli, Julien Ochala, Leslie A. Leinwand

J Clin Invest. 2024 May 1; 134(9): e172599. Published online 2024 May 1. doi: 10.1172/JCI172599

PMCID:: PMC11060730

Abstract Article PDF–1.4M

Select item 109970386.

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

Abstract Article PDF–140K

Select item 109632967.

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 109236388.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G.W. Lidov, Andrew L. Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito

Acta Neuropathol. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Acta Neuropathol. 2023 Apr; 145(4): 479–496. Published online 2023 Feb 17. doi: 10.1007/s00401-023-02551-7

PMCID:: PMC10923638

Abstract Article PDF–2.4M

Select item 109222889.

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Maike F. Dohrn, Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A. Reghan Foley, Aubrey Rose, Michael Lyons, Raymond J. Louie, Kenneth Gable, Teresa Dunn, Sitong Chen, Matt C. Danzi, Matthis Synofzik, Carsten G. Bönnemann, A. Nazli Başak, Thorsten Hornemann, Stephan Züchner

J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2024 Mar 8.

Published in final edited form as: J Neurol Neurosurg Psychiatry. 2024 Feb 14; 95(3): 201–205. Published online 2024 Feb 14. doi: 10.1136/jnnp-2023-332130

PMCID:: PMC10922288

Abstract Article PDF–848K

Select item 1088696710.

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)

Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo

Cells. 2024 Feb; 13(4): 329. Published online 2024 Feb 10. doi: 10.3390/cells13040329

PMCID:: PMC10886967

Abstract Article PDF–26M

Select item 1088332711.

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation

Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri

Acta Myol. 2023; 42(4): 106–112. Published online 2023 Dec 31. doi: 10.36185/2532-1900-391

PMCID:: PMC10883327

Abstract Article PDF–1.3M

Select item 1085450212.

Investigation into Cardiac Myhc-α 334–352-Specific TCR Transgenic Mice Reveals a Role for Cytotoxic CD4 T Cells in the Development of Cardiac Autoimmunity

Meghna Sur, Mahima T. Rasquinha, Kiruthiga Mone, Chandirasegaran Massilamany, Ninaad Lasrado, Channabasavaiah Gurumurthy, Raymond A. Sobel, Jay Reddy

Cells. 2024 Feb; 13(3): 234. Published online 2024 Jan 26. doi: 10.3390/cells13030234

PMCID:: PMC10854502

Abstract Article PDF–11M

Select item 1079909513.

Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2

Felix Kleefeld, Rita Horvath, Iago Pinal-Fernandez, Andrew L. Mammen, Maria Casal-Dominguez, Denisa Hathazi, Sarah Melchert, Katrin Hahn, Albert Sickmann, Claudia Muselmann-Genschow, Andreas Hentschel, Corinna Preuße, Andreas Roos, Benedikt Schoser, Werner Stenzel

Acta Neuropathol. 2024; 147(1): 19. Published online 2024 Jan 19. doi: 10.1007/s00401-023-02673-y

PMCID:: PMC10799095

Abstract Article PDF–2.3M

Select item 1077212214.

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing

Julian Theuriet, Gorka Fernandez-Eulate, Philippe Latour, Tanya Stojkovic, Marion Masingue, Léo Vidoni, Emilien Bernard, Arnaud Jacquier, Laurent Schaeffer, Emmanuelle Salort-Campana, Jean-Baptiste Chanson, Aleksandra Nadaj Pakleza, Anne-Laure Kaminsky, Juliette Svahn, Véronique Manel, Françoise Bouhour, Antoine Pegat

Eur J Hum Genet. 2024 Jan; 32(1): 37–43. Published online 2023 Jun 19. doi: 10.1038/s41431-023-01407-8

PMCID:: PMC10772122

Abstract Article PDF–546K

Select item 1072795815.

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy

Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin

Physiol Rep. 2023 Dec; 11(24): e15887. Published online 2023 Dec 18. doi: 10.14814/phy2.15887

PMCID:: PMC10727958

Abstract Article PDF–3.6M

Select item 1071316316.

Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report

Jiayi Li, Shuangzhu Lin, Qiong Wu, Jinhua Feng, Qiandui Chen, Kai Jiang

Medicine (Baltimore) 2023 Dec 8; 102(49): e36398. Published online 2023 Dec 8. doi: 10.1097/MD.0000000000036398

PMCID:: PMC10713163

Abstract Article PDF–508K

Select item 1064700417.

WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy

Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti

Ann Clin Transl Neurol. 2023 Nov; 10(11): 1972–1984. Published online 2023 Aug 25. doi: 10.1002/acn3.51884

PMCID:: PMC10647004

Abstract Article PDF–1.4M

Select item 1064118118.

Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient

Koichi Miyashita, Yuichiro Ii, Hirofumi Matsuyama, Atsushi Niwa, Yosuke Kawana, Soshi Shibata, Narihiro Minami, Ichizo Nishino, Hidekazu Tomimoto

Intern Med. 2023 Oct 15; 62(20): 3027–3031. Published online 2023 Feb 15. doi: 10.2169/internalmedicine.0425-22

PMCID:: PMC10641181

Abstract Article PDF–591K

Select item 1057176119.

Transgenic Mice Expressing Functional TCRs Specific to Cardiac Myhc-α 334–352 on Both CD4 and CD8 T Cells Are Resistant to the Development of Myocarditis on C57BL/6 Genetic Background

Meghna Sur, Mahima T. Rasquinha, Rajkumar Arumugam, Chandirasegaran Massilamany, Arunkumar Gangaplara, Kiruthiga Mone, Ninaad Lasrado, Bharathi Yalaka, Aakash Doiphode, Channabasavaiah Gurumurthy, David Steffen, Jay Reddy

Cells. 2023 Oct; 12(19): 2346. Published online 2023 Sep 25. doi: 10.3390/cells12192346

PMCID:: PMC10571761

Abstract Article PDF–4.2M

Select item 1055224020.

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy

Niloofar Naderi, Neda Mohsen-Pour, Yalda Nilipour, Maryam Pourirahim, Majid Maleki, Samira Kalayinia

BMC Cardiovasc Disord. 2023; 23: 487. Published online 2023 Oct 4. doi: 10.1186/s12872-023-03538-8

PMCID:: PMC10552240

Abstract Article PDF–2.2M

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