Results 91 to 100 of about 57,426 (267)

Biglycan : a multivalent proteoglycan providing structure and signals [PDF]

, 2013
Research over the past few years has provided fascinating results indicating that biglycan, besides being a ubiquitous structural component of the extracellular matrix (ECM), may act as a signaling molecule.
Năstase, Mădălina-Viviana, Schäfer, Liliana, Young, Marian F.   +2 more
core  

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

Frontiers in Genetics
BackgroundMuscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.MethodsThis study aimed to investigate the use of whole exome ...
Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chih-Kuang Chuang, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin   +22 more
doaj   +1 more source

LARGE expression in different types of muscular dystrophies other than dystroglycanopathy

BMC Neurology, 2018
Background Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses.
Burcu Balci-Hayta, Beril Talim, Gulsev Kale, Pervin Dincer   +3 more
doaj   +1 more source

Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy

Case Reports in Neurological Medicine, 2013
Limb-girdle muscular dystrophies (LGMDs) is a heterogeneous group of muscular dystrophies that mostly affect the pelvic and shoulder girdle muscle groups.
Baiba Lace, Inna Inashkina, Ieva Micule, Inta Vasiljeva, Maruta Solvita Naudina, Jurgis Strautmanis, Janis Stavusis, Eriks Jankevics   +7 more
doaj   +1 more source

Degree of Cajal-Retzius cell mislocalisation correlates with the severity of structural brain defects in mouse models of dystroglycanopathy [PDF]

, 2016
The secondary dystroglycanopathies are characterized by the hypoglycosylation of alpha dystroglycan, and are associated with mutations in at least 18 genes that act on the glycosylation of this cell surface receptor rather than the Dag1 gene itself.
Booler, H, Brown, S C, Hopkinson, M, Williams, J   +3 more
core   +1 more source

Proteomic profiling of impaired excitation–contraction coupling and abnormal calcium handling in muscular dystrophy

, 2022
Paul Dowling, Stephen Gargan, Dieter Swandulla, Kay Ohlendieck   +3 more
openalex   +1 more source

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex

Orphanet Journal of Rare Diseases, 2019
Background Dystrophin-glycoprotein complex (DGC)-related muscular dystrophies may present similar clinical and pathological features as well as undetectable mutations thus being sometimes difficult to distinguish.
Zhiying Xie, Zhihao Xie, Meng Yu, Yiming Zheng, Chengyue Sun, Yilin Liu, Chen Ling, Ying Zhu, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang, Yun Yuan   +11 more
doaj   +1 more source

Assessment of the Use of Non-Pharmacological Methods for Managing Depression in Patients with Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2018
Background: Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are two types of muscular dystrophies with multi-system manifestations.
Miller, Kimberly, Parkhill, Amy L., Roberts, Mackenzie, Skalla, Deidre   +3 more
core   +1 more source

Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy [PDF]

, 2018
Dongsheng Duan
openalex   +1 more source

Special Issue—Towards Understanding the Mechanisms and Curing of Muscular Dystrophy Diseases

Molecules, 2015
Muscular dystrophies are a heterogeneous group of inherited diseases with different molecular basss, but sharing similar clinical features and dystrophic changes.
Leonidas A. Phylactou
doaj   +1 more source