Results 261 to 270 of about 116,027 (330)

Biomarkers of immune dysregulation and posttreatment inflammation in spinal muscular atrophy. [PDF]

Proc Natl Acad Sci U S A
Jordan SC, Bakhtiari M, Bhasin SS, Verma S, Bhasin MK.   +4 more
europepmc   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Pregnancy in women with spinal muscular atrophy (SMA): maternal and neonatal outcomes with multi-speciality management. [PDF]

J Neurol
Cohen D, Nana M, Hart N, Arrandale L, Kelleher C, Nelson-Piercy C.   +5 more
europepmc   +1 more source

Soft tissue abnormalities in the congenital limb malformation radial dysplasia (RD): Their clinical impact and treatment significance

Journal of Anatomy, EarlyView.
We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte, Sultan M. Al‐Zyoud, Eleanor M. Feneck, Duane James, Gillian D. Smith, Branavan Sivakumar, Malcolm P. O. Logan   +6 more
wiley   +1 more source

Quantitative Whole-Body Muscle MRI in Adults With Spinal Muscular Atrophy-A Sensitive Tool for Long-Time Evaluation of Disease Progression. [PDF]

Eur J Neurol
Mensch A, Troppa B, Schneider I, Stapf CD, Koelsch AK, Kendzierski T, Strube D, Plutz S, Obenauf M, Delank KS, Kraya T, Otto M, Stoevesandt D, Naegel S.   +13 more
europepmc   +1 more source

Stem Cells From Dental Pulp, Periodontal Tissues, and Other Oral Sources: Biological Concepts and Regenerative Potential

Journal of Periodontal Research, EarlyView.
A graphical abstract recapping the different sources of dental, periodontal, and other oral‐derived mesenchymal stromal cells (MSCs) and their regenerative mechanisms and potentials. The review's article findings bridge fundamental biological science with translational advances, highlighting the significance of MSCs in craniofacial regenerative ...
Karim M. Fawzy El‐Sayed, Sara El Moshy, Israa Ahmed Radwan, Dina Rady, Aiah A. El‐Rashidy, Marwa M. S. Abbass, Christof E. Dörfer   +6 more
wiley   +1 more source

Motor Unit Patterns Correlate With Severity in Symptomatic Patients With Spinal Muscular Atrophy. [PDF]

Eur J Neurol
Ros LAA, van der Pol WL, García DJLS, Goedee HS, Franssen H, Asselman FL, Bartels B, van der Woude DR, van Eijk RPA, Sleutjes BTHM, Wadman RI.   +10 more
europepmc   +1 more source

Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence. [PDF]

J Int Med Res
Sel EK, Gkrinia EMM, Roncato R, Vitezić D, Janković S, Belančić A, EACPT Early Career Clinical Pharmacologists Working Group.   +6 more
europepmc   +1 more source

Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice. [PDF]

Prenat Diagn
Riegel M, Bender W, Critchlow E, Dugoff L.   +3 more
europepmc   +1 more source

Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar. [PDF]

Hum Genomics
AlMarzooqi SK, Bux RI, Joy JA, Islam N, Ben-Omran T, Al-Hashimi AA, Alkowari M, Al-Shafai M.   +7 more
europepmc   +1 more source