Results 311 to 320 of about 342,419 (394)

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns. [PDF]

Cureus
Nmer S, Ameli A, Trhanint S, Chaouki S, Bouguenouch L, Ouldim K.   +5 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

The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice [PDF]

Ackroyd, M R, Ashraf, A, Booler, H, Brown, S C, Fernandez-Fuente, M, Imperial College London, Kavishwar, M, Kim, J, Lacey, E, Muntoni, F, Parr, C, Terry, R, UCL, Wells, D J, Wells, K E, Whitmore, C   +15 more
core   +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

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. [PDF]

Neurogenetics
Safwat S, Flannery KP, El Beheiry AA, Mokhtar MM, Abdalla E, Manzini MC.   +5 more
europepmc   +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

Disability, Subject‐Dependence, and the Bad‐Difference View

Bioethics, Volume 39, Issue 9, Page 802-809, November 2025.
ABSTRACT Philosophers have debated on the “mere‐difference” view of disability, according to which disability as such is neutral in terms of well‐being, just like race and gender. It is contrasted with the “bad‐difference” view, which holds that disability is bad for its possessor even in a non‐ableist situation.
Shu Ishida, Mitsuru Sasaki‐Honda, Tsutomu Sawai   +2 more
wiley   +1 more source

Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies. [PDF]

J Community Genet
Hoefel AML, Weschenfelder CA, Rosa BF, Donis KC, Saute JAM.   +4 more
europepmc   +1 more source

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders

Clinical Genetics, Volume 108, Issue 5, Page 495-510, November 2025.
A growing number of genetic variants linking non‐autoimmune diabetes to NDDs across different ages offer key insights about a common background of these phenotypes. These findings call for multidisciplinary approaches to care that integrate metabolic and neurological management in affected children.
Gabriele Di Pasquale, Camilla Valsecchi, Giulia Marie Smylie, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio, Chiara Mameli   +6 more
wiley   +1 more source

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1421-1442, November 2025.
This systematic review found that while the Gross Motor Function Measure (GMFM) is widely used across 208 studies involving various pediatric conditions beyond cerebral palsy, validation studies exist for only eight conditions with generally low‐quality evidence.
Hirokazu Abe, Shuhei Higashi, Nobuaki Himuro   +2 more
wiley   +1 more source