Results 211 to 220 of about 4,483,049 (377)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

Architected Lattices with a Topological Transition

open access: yesAdvanced Engineering Materials, EarlyView., 2023
This article develops topological metamaterials showing multidirectional two‐step deformation under compression by embedding contact‐enabled topological mechanisms into lattice structures. Experiments on 3D‐printed 2D and 3D lattices and finite element simulations are conducted to demonstrate the working principle of the topological metamaterials.
Shivam Agarwal, Lihua Jin
wiley   +1 more source

Measuring rurality in health services research: a scoping review. [PDF]

open access: yesBMC Health Serv Res, 2022
Danek R   +4 more
europepmc   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

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