Results 181 to 190 of about 98,011 (316)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Regenerative Medicine: Advanced Therapy for Muscle Tissue Restoration. [PDF]

Int J Mol Sci
Deev R, Kopylov E, Slepov I, Gladyshev N, Limaev I, Sorochanu I.   +5 more
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Cell Death in Skeletal Muscle Diseases: Diverse Roles and Pathological Processes. [PDF]

Cells
Yang YL, Guo L.
europepmc   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Myosin Post-Translational Modifications Associated With Critical Illness Myopathy. [PDF]

Acta Physiol (Oxf)
Ribeiro F, Di Geronimo B, Cacciani N, Widgren A, Hedström Y, Moriscot AS, Kasson PM, Kamerlin SCL, Bergquist J, Larsson L.   +9 more
europepmc   +1 more source

UHPLC–MS based metabolomics study of the ErZhi formula on skeletal muscle against osteosarcopenia focusing on energy metabolism

Animal Models and Experimental Medicine, EarlyView.
ErZhi formula (EZF) is composed of Ligustri Lucidi Fructus (LLF) and Ecliptae herba (EH). Ovariectomized (OVX) and sham rats received 12‐week intragastric treatment with EZF, alendronate, and vehicle saline. Gastrocnemius tissues were harvested to systematically evaluate pharmacodynamic changes in skeletal muscle morphology, mitochondrial ...
Yuqing Pang, Ningning Li, Yujie Ding, Shuzhen Hou, Jing Liu, Xiuxue Liu, Erwei Liu, Xiaopeng Chen   +7 more
wiley   +1 more source

Glycogenin-1 deficiency: a case report and review of the literature. [PDF]

Front Genet
Molitierno N, Velardo D, Salvucci G, Abati E, Tumminello G, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Comi GP, Corti S, Ronchi D.   +12 more
europepmc   +1 more source

Functional morphology of the pharyngeal teeth of the ocean sunfish, Mola mola

The Anatomical Record, EarlyView.
Abstract Many fish use a set of pharyngeal jaws in their throat to aid in prey capture and processing, particularly of large or complex prey. In this study—combining dissection, CT scanning, histology, and performance testing—we demonstrate a novel use of pharyngeal teeth in the ocean sunfish (Mola mola), a species for which pharyngeal jaw anatomy had ...
Benjamin Flaum, Michael J. Blumer, Mason N. Dean, Laura J. Ekstrom   +3 more
wiley   +1 more source

Cytocompatible liquid crystal elastomer fibers for potential application as artificial skeletal or cardiac muscle. [PDF]

Sci Rep
Benecke L, Aibibu D, Cherif C.
europepmc   +1 more source