Results 61 to 70 of about 19,247 (225)

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Arechavala-Gomeza, V, Bushby, K, Edge, G, Feng, L, Guglieri, M, Hunt, D, Kinali, M, Lehovsky, J, Main, M, Morgan, JE, Muntoni, F, Sewry, CA, Straub, V   +12 more
core   +1 more source

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Elbow Flexors Muscle Fat Fraction Is a Sensitive and Relevant Outcome Measure in Nonambulant Patients With DMD

NMR in Biomedicine, Volume 39, Issue 6, June 2026.
Quantitative MRI of upper limb muscles in DMD patients showed increasing sensitivity to change over time with larger analysis volumes and longer follow‐up. Muscle fat fraction had the highest sensitivity to change and was associated with declining upper limb function, supporting its value as a robust imaging biomarker in DMD. ABSTRACT Duchenne muscular
M. Michaëls, K. J. Naarding, M. van der Holst, N. Geijsen, E. H. Niks, H. E. Kan   +5 more
wiley   +1 more source

Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dystrophin gene [PDF]

, 1994
We report on multicolor fluorescence in situ hybridization protocols for the simultaneous visualization of deletion-prone regions for carrier detection of Duchenne/ Becker (DMD/BMD) muscular dystrophy.
Blonden, Lau, Cremer, Marion, Cremer, Thomas, Kilian, Karin, Ried, Thomas, Schröck, Evelin, Tocharoentanaphol, Chintana   +6 more
core   +1 more source

Dystrophinopathy with a DMD exon 49–50 deletion in a female patient who developed schizophrenia: An autopsy case

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 2, June 2026.
Abstract Background Mutations in DMD affect not only muscles but also the brain. Cases of schizophrenia with DMD mutations have been described previously. Although female dystrophinopathy often has a milder phenotype, some affected females also have intellectual disabilities and psychiatric disorders.
Shusei Arafuka, Youta Torii, Ayako Miwa, Itaru Kushima, Hirotaka Sekiguchi, Hiroshige Fujishiro, Chikako Habuchi, Hiroaki Miyahara, Yosuke Kawai, Ran Wei, Katsushi Tokunaga, Norio Ozaki, Mari Yoshida, Shuji Iritani, Yasushi Iwasaki, Masashi Ikeda   +15 more
wiley   +1 more source

Feasibility and tolerability of whole-body, low-intensity vibration and its effects on muscle function and bone in patients with dystrophinopathies: a pilot study. [PDF]

, 2017
IntroductionDystrophinopathies are X-linked muscle degenerative disorders that result in progressive muscle weakness complicated by bone loss. This study's goal was to evaluate feasibility and tolerability of whole-body, low-intensity vibration (WBLIV ...
Grames, Molly, Hodges, James S, Karachunski, Peter, Lowe, Dawn A, Petryk, Anna, Polgreen, Lynda E   +5 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Becker muscular dystrophy.

Chinese medical journal, 1989
Five patients from 3 families with Becker muscular dystrophy (BMD) were reported. The main clinical and laboratory findings were in common. Pairs of affected brothers are quite resembled each other. However, there are also some variations among different families.
H D, Fu, X F, Tang, Y P, Guo
openaire   +1 more source

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice [PDF]

, 2015
Duchenne muscular dystrophy (DMD) is characterized by progressive lethal muscle degeneration and chronic inflammatory response. The mdx mouse strain has served as the animal model for human DMD. However, while DMD patients undergo extensive necrosis, the
Berardinelli, Maria Grazia, Camilli, Carlotta, Catizone, Angela, De Benedetti, Fabrizio, Forcina, Laura, Musarò, Antonio, Nicoletti, Carmine, Pelosi, Laura, Rizzuto, Emanuele, Spelta, Elisa, Testa, Erika   +10 more
core   +2 more sources

The atomic structure of human dystrophin spectrin‐like repeat 24

Acta Crystallographica Section F, Volume 82, Issue 5, Page 184-193, May 2026.
The atomic structure of human dystrophin spectrin‐like repeat 24 was determined at 2.14 Å resolution.The structure of spectrin‐like repeat 24 of human dystrophin was determined at 2.5 Å effective resolution. The structure exhibits a three‐helix bundle fold, common to all spectrin‐repeat family members, and shares a high degree of homology with existing
Oakley Streeter, Ke Shi, Hannah Bui, Hideki Aihara, James M. Ervasti, Robert Evans III, Joseph M. Muretta   +6 more
wiley   +1 more source