Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
In Vivo Regulation of Active Matrix Metalloproteinase-8 (aMMP-8) in Periodontitis: From Transcriptomics to Real-Time Online Diagnostics and Treatment Monitoring. [PDF]
Diagnostics (Basel)Aji NRAS +10 more
europepmc +1 more source
Identification of Biologically Active Sites in Laminin an Extracellular Matrix Protein
, 1998 Motoyoshi Nomizu
openalex +2 more sources
Detection of Endogenous Matrix Metalloprotease-12 Active Form with a Novel Broad Spectrum Activity-based Probe* [PDF]
, 2012 Catherine Nury +5 more
openalex +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi +8 more
wiley +1 more source
Stretchable self-healable semiconducting polymer film for active-matrix strain-sensing array. [PDF]
Sci Adv, 2019 Oh JY +16 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao +6 more
wiley +1 more source
Integrated multilayer stretchable printed circuit boards paving the way for deformable active matrix. [PDF]
Nat Commun, 2019 Biswas S +6 more
europepmc +1 more source
Active correction technique for a magnetic matrix display [PDF]
, 2005 Beeteson, J.S., Knox, A.R., Lowe, A.C.
core
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source