Results 61 to 70 of about 207,661 (267)

Barriers to diverse clinical trial participation in Duchenne muscular dystrophy: Engaging Hispanic/Latina caregivers and health professionals

Orphanet Journal of Rare Diseases
Background Despite the increasing availability of clinical trials in Duchenne muscular dystrophy, racial/ethnic minorities and other populations facing health disparities remain underrepresented in clinical trials evaluating products for Duchenne.
Norah L. Crossnohere, Nicola B. Campoamor, Eric Camino, Erin Dresnick, Daphne Oluwaseun Martschenko, Viana Rodrigues, Susan Apkon, Alexis Hazlett, Dhruv Mittur, Priscilla E. Rodriguez, John F. P. Bridges, Niki Armstrong   +11 more
doaj   +1 more source

[Neuropathology I: muscular diseases]. [PDF]

Pathologie (Heidelb), 2023
Schänzer A, Dittmayer C, Porubsky S, Weis J, Goebel HH, Stenzel W.   +5 more
europepmc   +1 more source

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

The Role of Lonp1 on Mitochondrial Functions during Cardiovascular and Muscular Diseases. [PDF]

Antioxidants (Basel), 2023
Zanini G, Selleri V, Malerba M, Solodka K, Sinigaglia G, Nasi M, Mattioli AV, Pinti M.   +7 more
europepmc   +1 more source

Raman‐based label‐free microscopic analysis of the pancreas in living zebrafish larvae

FEBS Open Bio, EarlyView.
Forward stimulated Raman scattering (F‐SRS) and epi coherent anti‐Stokes Raman scattering (E‐CARS) allow label‐free discrimination of distinct subcellular structures in the pancreas of living zebrafish larvae. Given the straightforward applicability, we anticipate broad implementation of Raman microscopy in other organs and across various biomedical ...
Noura Faraj, Eline M. F. de Lange, Klaas A. Sjollema, Ben N. G. Giepmans   +3 more
wiley   +1 more source

Progress of Research on the Metabolic Regulation of Lactylation in Muscle Tissues and Its Disease Associations

Biomolecules
Lactylation serves as a vital link between cellular metabolism and epigenetic regulation and plays a pivotal role in muscle biology. Muscle tissue is the primary site of lactate production; its unique metabolic environment confers dynamism, specificity ...
Zhihang Wang, Ji Zhang, Junxi Wu, Guangrun Liu, Yun He, Hongbo Zhao, Xiaolin Jiang, Shengbo Yang   +7 more
doaj   +1 more source

Correction to: Newborn screening in mucopolysaccharidoses

Italian Journal of Pediatrics, 2019
The original article contains an unintended omission of a statement of competing interests. As such, the authors would like to declare the following complete statement of competing interests:
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina   +4 more
doaj   +1 more source

Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis

FEBS Open Bio, EarlyView.
Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho, Rebecca Schmitt, Aneesha Dasgupta, Alexandra Ducharme, Jason Doles   +4 more
wiley   +1 more source

Newborn screening in mucopolysaccharidoses

Italian Journal of Pediatrics, 2018
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome.
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina   +4 more
doaj   +1 more source

Disease taxonomy - monogenic muscular dystrophy [PDF]

British Medical Bulletin, 1999
The field of the autosomal recessive progressive muscular dystrophies has clarified significantly following the recent elucidation of the genetic and molecular etiology of a number of these entities. These studies illustrate how genetics provides a rationale and objective basis for a new, refined nosology.
openaire   +2 more sources