Results 71 to 80 of about 104,787 (267)

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Ribitol and ribose treatments differentially affect metabolism of muscle tissue in FKRP mutant mice

Scientific Reports
Dystroglycanopathy is characterized by reduced or lack of matriglycan, a cellular receptor for laminin as well as other extracellular matrix proteins. Recent studies have delineated the glycan chain structure of the matriglycan and the pathway with key ...
Marcela P. Cataldi, Qi L. Lu
doaj   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source

State-of-the-art Advances in Duchenne Muscular Dystrophy

European Medical Journal, 2017
Duchenne muscular dystrophy (DMD) is a severe and fatal muscle condition affecting young children. Without interventions, affected boys lose the ability to walk independently by the age of 10 and develop progressive cardiac and respiratory failure.
Henriette Van Ruiten, Katherine Bushby, Michela Guglieri   +2 more
doaj  

Adaptive Machine Learning Framework for Optimizing the Affinity Purification of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai, Shriarjun Shastry, Morgan R. Hurst, Arianna Minzoni, Eduardo Barbieri, Luke Remmler, Eugene N. Muratov, Michael A. Daniele, Stefano Menegatti, Alexander Tropsha   +9 more
wiley   +1 more source

The Role of Matrix Metalloproteinases and Tissue Inhibitors of Metalloproteinases in Duchenne Muscular Dystrophy Cardiomyopathy [PDF]

, 2019
Jonathan H. Soslow, Meng Xu, James C. Slaughter, Kimberly Crum, Joshua D. Chew, W. Bryan Burnette, Y. Su, Kelsey Tomasek, David Parra, Larry W. Markham   +9 more
openalex   +1 more source

Why we age

Biological Reviews, EarlyView.
ABSTRACT Three categories of explanations exist for why we age: mechanistic theories, which omit reference to evolutionary forces; weakening force of selection theories, which posit that barriers exist that prevent evolutionary forces from optimising fitness in ageing; and optimisation theories, which posit that evolutionary forces actually select for ...
Michael S. Ringel
wiley   +1 more source

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes [PDF]

, 2018
Reda Zenagui, Delphine Lacourt, Henri Pégeot, Kévin Yauy, Raúl Juntas‐Morales, Corine Theze, François Rivier, Claude Cancés, Guilhem Solé, Dimitri Renard, Ulrike Walther‐Louvier, Xavier Ferrer-Monasterio, Caroline Espil, Marie‐Christine Arné‐Bes, Pascal Cintas, Emmanuelle Uro‐Coste, Marie-Laure Martin Négrier, Valérie Rigau, Éric Bieth, Cyril Goizet, Mireille Claustres, M. Kœnig, Mireille Cossée   +22 more
openalex   +1 more source

Gene Therapy for the Limb-Girdle Muscular Dystrophy [PDF]

, 2022
Rajesh Kumar Meena
openalex   +1 more source