Results 281 to 290 of about 182,997 (357)

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Scoliosis may be the result or cause of pelvic obliquity in Duchenne muscular dystrophy. [PDF]

Rev Assoc Med Bras (1992)
Finsterer J, Scorza CA, Scorza FA.
europepmc   +1 more source

From Earth to orbit: How to preserve muscle health in space and bed rest

Experimental Physiology, EarlyView.
Antonios Matsakas, Colleen Deane
wiley   +1 more source

Aryl Hydrocarbon Receptor in Health and Disease

MedComm, Volume 6, Issue 11, November 2025.
Based on the structure and ligands of AhR, this review introduces the AhR‐related signaling pathways and their roles in health and diseases. Agonists and antagonists of AhR as well as new strategies for treatment using the microbial–AhR axis are summarized. A prospect was made for the future use of AhR as a therapeutic target.
Haonan Li, Yufeng Fan, Jizheng Liu, Shumin Dong, Bin Wen, Yunfei Zhang, Xiaocui Wang, Xuemei Duan, Ying Hu, Ze Yan, Huifeng Shang, Yukai Jing   +11 more
wiley   +1 more source

Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study. [PDF]

Front Pediatr
Sawahreh M, Al-Maadid F, Ibrahim KO, Omran TB, Osman MF.   +4 more
europepmc   +1 more source

A Cross‐Sectional Study of Quality of Life and Body Image in Myasthenia Gravis Patients: A Novel Approach Using the Individualized Neuromuscular Quality of Life Questionnaire

Muscle &Nerve, Volume 72, Issue 5, Page 1091-1099, November 2025.
ABSTRACT Introduction/Aims Many generic and disease‐specific quality of life (QoL) measures have been used to understand the perspectives of patients with myasthenia gravis (MG). However, there is limited data regarding the use of the Individualized Neuromuscular Quality of Life Questionnaire (INQoL) and the impact of body image in patients with MG ...
Michael Chou, Meg Mendoza, Hans Katzberg, Vera Bril, Carolina Barnett‐Tapia   +4 more
wiley   +1 more source

Multiparametric Analysis of Nasal Inspiratory Pressure (SNIP) in Duchenne Muscular Dystrophy: A Case-Control Study With Healthy Subjects. [PDF]

Pediatr Pulmonol
Santos IP, Marques L, da Fonseca JDM, Dourado ME, Otto-Yáñez M, Torres-Castro R, Pennati F, Aliverti A, Fregonezi GAF, Resqueti VR.   +9 more
europepmc   +1 more source

Multicenter Expanded Access Protocol for Research Through Access to Trehalose in People With Amyotrophic Lateral Sclerosis

Muscle &Nerve, Volume 72, Issue 5, Page 1108-1116, November 2025.
ABSTRACT Introduction/Aims Expanded access protocols (EAPs) allow individuals ineligible for clinical trials to receive investigational products. EAP data can be collected in parallel to randomized clinical trials (RCTs) and serve as a source of evidence in clinical practice.
Brooke Krivickas, Erica Scirocco, Elisa Giacomelli, Saloni Sharma, Molly Benson, Mackenzie Keegan, Jennifer Kulesa‐Kelley, Lori B. Chibnik, Gabriella Casagrande, Lindsay Heyd, Marianne Chase, Kristin Drake, Silpa Mohapatra, Jennifer Linn Hagar, Meredith Gibbons Hasenoehrl, Derek Dagostino, Alexander V. Sherman, Alex Leite, Hong Yu, Jesse Rosenthal, Timothy Miller, Alexandra McCaffrey, Kelly Gwathmey, Eduardo Locatelli, Elham Bayat, Daragh Heitzman, Eufrosina Young, Namita A. Goyal, Jackie Whitesell, Kevin Felice, Hristelina Ilieva, Andrea Swenson, David Walk, Gustavo Alameda, Laura Foster, Courtney E. McIlduff, Alison Walsh, Lindsay Zilliox, Senda Ajroud‐Driss, Cynthia Bodkin, Jonathan Katz, Shafeeq Ladha, Michael Rivner, Laura Rosow, Paul Twydell, Warren Wasiewski, Suma Babu, James D. Berry, Sabrina Paganoni   +48 more
wiley   +1 more source

Skeletal Muscle Membrane Permeability Markers Derived From 31P‐MRS May Reflect Disease Activity in Becker Muscular Dystrophy

NMR in Biomedicine, Volume 38, Issue 11, November 2025.
Biomarkers for muscle disease activity are needed for trials in Becker muscular dystrophy (BMD). We investigated magnesium (Mg2+), phosphodiesters (PDE) and pH from 31P‐MRS; and membrane permeability from random permeable barrier model (RBPM) diffusion as candidates, studying ‘preserved’ and ‘progressing’ muscles in patients with BMD versus controls ...
Esther J. Schrama, Melissa T. Hooijmans, Nienke M. van de Velde, Erik H. Niks, Hermien E. Kan, Donnie Cameron   +5 more
wiley   +1 more source