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Select item 111719581.

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins

Patricia Martínez Olorón, Iosune Alegría, Sergi Cesar, Bernat del Olmo, Estefanía Martínez-Barrios, Laura Carrera-García, Daniel Natera-de Benito, Andrés Nascimento, Oscar Campuzano, Georgia Sarquella-Brugada

Int J Mol Sci. 2024 Jun; 25(11): 5836. Published online 2024 May 27. doi: 10.3390/ijms25115836

PMCID:: PMC11171958

Abstract Article PDF–3.2M

Select item 111714132.

Electroretinogram Abnormalities in FKRP Related Limb-Girdle Muscular Dystrophy (LGMDR9)

Joshua L. Hagedorn, Taylor M. Dunn, Sajag Bhattarai, Carrie Stephan, Katherine D. Mathews, Wanda Pfeifer, Arlene V. Drack

Doc Ophthalmol. Author manuscript; available in PMC 2024 Jun 13.

Published in final edited form as: Doc Ophthalmol. 2023 Feb; 146(1): 7–16. Published online 2022 Nov 18. doi: 10.1007/s10633-022-09909-4

PMCID:: PMC11171413

Abstract Article PDF–1014K

Select item 109426503.

Inhibitory CCK+ basket synapse defects in mouse models of dystroglycanopathy

Jennifer N Jahncke, Daniel S Miller, Milana Krush, Eric Schnell, Kevin M Wright

eLife. 2024; 12: RP87965. Published online 2024 Jan 5. doi: 10.7554/eLife.87965

PMCID:: PMC10942650

Abstract Article PDF–21M

Select item 109309314.

Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy

Vittoria Cenni, Patrizia Sabatelli, Alberto Di Martino, Luciano Merlini, Manuela Antoniel, Stefano Squarzoni, Simona Neri, Spartaco Santi, Samuele Metti, Paolo Bonaldo, Cesare Faldini

Cells. 2024 Mar; 13(5): 378. Published online 2024 Feb 22. doi: 10.3390/cells13050378

PMCID:: PMC10930931

Abstract Article PDF–2.3M

Select item 108833275.

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 107790176.

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3

Aysylu Murtazina, Artem Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh, Alena Chukhrova, Svetlana Braslavskaya, Oksana Ryzhkova, Nikolay Skryabin, Sergey Kutsev, Elena Dadali

Int J Mol Sci. 2024 Jan; 25(1): 129. Published online 2023 Dec 21. doi: 10.3390/ijms25010129

PMCID:: PMC10779017

Abstract Article PDF–2.5M

Select item 107216957.

MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders

Nahla O. Mousa, Ahmed Abdellatif, Nagia Fahmy, Hassan El-Fawal, Ahmed Osman

Neuromolecular Med. 2023; 25(4): 603–615. Published online 2023 Oct 19. doi: 10.1007/s12017-023-08763-0

PMCID:: PMC10721695

Abstract Article PDF–1.3M

Select item 107131638.

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 104201879.

New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients

Luciano Merlini, Patrizia Sabatelli, Francesca Gualandi, Edoardo Redivo, Alberto Di Martino, Cesare Faldini

Int J Mol Sci. 2023 Aug; 24(15): 12474. Published online 2023 Aug 5. doi: 10.3390/ijms241512474

PMCID:: PMC10420187

Abstract Article PDF–3.3M

Select item 1036905410.

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

Valentina Mancioppi, Tommaso Daffara, Martina Romanisio, Giovanni Ceccarini, Caterina Pelosini, Ferruccio Santini, Simonetta Bellone, Simona Mellone, Alessio Baricich, Ivana Rabbone, Gianluca Aimaretti, Baris Akinci, Mara Giordano, Flavia Prodam

Front Endocrinol (Lausanne) 2023; 14: 1212729. Published online 2023 Jul 12. doi: 10.3389/fendo.2023.1212729

PMCID:: PMC10369054

Abstract Article PDF–1.3M

Select item 1035715011.

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation

Clara Gontijo Camelo, Mariana Cunha Artilheiro, Cristiane Araújo Martins Moreno, Suely Fazio Ferraciolli, André Macedo Serafim Silva, Tatiana Ribeiro Fernandes, Leandro Tavares Lucato, Antônio José Rocha, Umbertina Conti Reed, Edmar Zanoteli

J Neuromuscul Dis. 2023; 10(4): 483–492. Prepublished online 2023 May 9. Published online 2023 Jul 4. doi: 10.3233/JND-221638

PMCID:: PMC10357150

Abstract Article PDF–852K

Select item 1034215212.

Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy

Maggie Lutz, Miranda Levanti, Rebekah Karns, Genevieve Gourdon, Diana Lindquist, Nikolai A. Timchenko, Lubov Timchenko

Int J Mol Sci. 2023 Jul; 24(13): 10650. Published online 2023 Jun 26. doi: 10.3390/ijms241310650

PMCID:: PMC10342152

Abstract Article PDF–2.1M

Select item 1033728213.

Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene

Tenghui Wu, Ciliu Zhang, Fang He, Li Yang, Fei Yin, Jing Peng

Mol Genet Genomic Med. 2023 Jul; 11(7): e2162. Published online 2023 Mar 10. doi: 10.1002/mgg3.2162

PMCID:: PMC10337282

Abstract Article PDF–2.2M

Select item 1031336114.

Net39 protects muscle nuclei from mechanical stress during the pathogenesis of Emery-Dreifuss muscular dystrophy

Yichi Zhang, Andres Ramirez-Martinez, Kenian Chen, John R. McAnally, Chunyu Cai, Mateusz Z. Durbacz, Francesco Chemello, Zhaoning Wang, Lin Xu, Rhonda Bassel-Duby, Ning Liu, Eric N. Olson

J Clin Invest. 2023 Jul 3; 133(13): e163333. Published online 2023 Jul 3. doi: 10.1172/JCI163333

PMCID:: PMC10313361

Abstract Article PDF–22M

Select item 1011716315.

Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development

Melissa A Hale, Kameron Bates, Marina Provenzano, Nicholas E Johnson

Hum Mol Genet. 2023 May 1; 32(9): 1413–1428. Published online 2022 Oct 11. doi: 10.1093/hmg/ddac254

PMCID:: PMC10117163

Abstract Article PDF–2.0M

Select item 1009544816.

Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype

Michela Starace, Francesca Pampaloni, Francesca Bruni, Federico Quadrelli, Stephano Cedirian, Carlotta Baraldi, Cosimo Misciali, Alberto Di Martino, Patrizia Sabatelli, Luciano Merlini, Bianca Maria Piraccini

Int J Mol Sci. 2023 Apr; 24(7): 6678. Published online 2023 Apr 3. doi: 10.3390/ijms24076678

PMCID:: PMC10095448

Abstract Article PDF–4.1M

Select item 1005997317.

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D’Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga

Int J Mol Sci. 2023 Mar; 24(6): 5551. Published online 2023 Mar 14. doi: 10.3390/ijms24065551