Results 201 to 210 of about 29,255 (302)

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families. [PDF]

BMC Musculoskelet Disord
Mao B, Cai X, Lin N, Jiang Y, Hao N, Dai Y, Guo D, He D, Xue H, Chen L, He Q, Zhang M, Chen M, Huang H, Xu L.   +14 more
europepmc   +1 more source

CD47 Promotes, While Exposure to Apoptotic Cells Destroys the Fusion Program of Differentiating Myoblasts

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
(A) CD47, acting in a cis‐manner with integrins, promotes myoblast fusion. TSP‐1 serves as a bridging molecule for these proteins to recognize PS on the surface of the other fusing myoblasts. (B) Blocking of these signals by neutralizing antibodies reduces cell fusion. Inhibition of PIEZO1 activity by constantly expressed PS on apoptotic cells leads to
Maysaa Adil Ali, Albert Bálint Papp, Éva Garabuczi, Áron Károly Gere, Beatrix Dienes, Mónika Gönczi, György Vámosi, Krisztina Köröskényi, László Csernoch, Zsuzsa Szondy, Zsolt Sarang   +10 more
wiley   +1 more source

Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families. [PDF]

Iran Biomed J
Soltani N, Shahbazi Z, Karimipoor M, Fallah MS, Zafarghandi Motlagh F, Amini M, Jamali M, Bagherian H, Zeinali R, Zeinali S.   +9 more
europepmc   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 310-323, February 2026.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

On RNA-programmable gene modulation as a versatile set of principles targeting muscular dystrophies. [PDF]

Mol Ther
Capelletti S, García Soto SC, Gonçalves MAFV.   +2 more
europepmc   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

In Vivo-Like Scaffold-Free 3D In Vitro Models of Muscular Dystrophies: The Case for Anchored Cell Sheet Engineering in Personalized Medicine. [PDF]

Adv Healthc Mater
Shahin-Shamsabadi A, Cappuccitti J.
europepmc   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 413-417, February 2026.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant. [PDF]

Neurol Genet
Õunap K, Reimand T, Õiglane-Shlik E, Puusepp S, Mihkla L, Pajusalu S, Savarese M, Udd B.   +7 more
europepmc   +1 more source

Muscle-on-a-chip devices: a new era for in vitro modelling of muscular dystrophies.

Dis Model Mech, 2023
Fernández-Costa JM, Tejedera-Vilafranca A, Fernández-Garibay X, Ramón-Azcón J.   +3 more
europepmc   +1 more source