Results 131 to 140 of about 60,007 (250)

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

Multidimensional Measurements of Dysarthria in Myotonic Dystrophy Type 1

International Journal of Language &Communication Disorders, Volume 61, Issue 3, May/June 2026.
ABSTRACT Background Myotonic dystrophy type 1 (DM1) is a heterogeneous neuromuscular disorder characterized by progressive muscle weakness and myotonia. Dysarthria is a known symptom of DM1, but literature is lacking about the patient's own perception in relationship to dysarthria characteristics and severity.
Sanne van Hellemond, Nicole Voet, Rosemarie Kroon, Yelda Sahin, Ilse Karnebeek, Marthè Nijkamp, Simone Knuijt   +6 more
wiley   +1 more source

Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP

JCI Insight
Skeletal muscle wasting results from numerous pathological conditions affecting both the musculoskeletal and nervous systems. A unifying feature of these pathologies is the upregulation of members of the E3 ubiquitin ligase family, resulting in increased
Avnika A. Ruparelia, Margo Montandon, Jo Merriner, Cheng Huang, Siew Fen Lisa Wong, Carmen Sonntag, Justin P. Hardee, Gordon S. Lynch, Lee B. Miles, Ashley Siegel, Thomas E. Hall, Ralf B. Schittenhelm, Peter D. Currie   +12 more
doaj   +1 more source

The Placebo Effect in Rare Disease Clinical Trials: Measurement, Impact, and Statistical Approaches for Patient‐as‐Own‐Control Designs

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT A frequently cited concern regarding patient‐as‐own‐control trial designs in rare disease is the potential for placebo and related effects to inflate apparent treatment efficacy. Whether this concern is disqualifying or manageable has not been systematically evaluated.
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Targeting a therapeutic LIF transgene to muscle via the immune system ameliorates muscular dystrophy. [PDF]

, 2019
Many potentially therapeutic molecules have been identified for treating Duchenne muscular dystrophy. However, targeting those molecules only to sites of active pathology is an obstacle to their clinical use.
Bertoni, Carmen, Flores, Ivan, Ramos, Julian, Tidball, James G, Wang, Ying, Wehling-Henricks, Michelle, Welc, Steven S   +6 more
core  

Cardioprotection in Duchenne muscular dystrophy

European Heart Journal, 2021
Anjali Tiku Owens, Mariell Jessup
openaire   +2 more sources

Quantitative ultrasound assessment of Duchenne muscular dystrophy using edge detection analysis [PDF]

, 2016
Aarnink, Arai, Bhansing, Bickerstaffe, Boland, Bushby, Bushby, Canny, Chen, Emery, Gudmundsson, Hammoude, Hoffman, Hou, Jansen, Janssen, Mahmoud, Mazzone, Mazzone, McDonald, Peters, Pillen, Pillen, Rutkove, Schreiber, Shklyar, Torriani, Wu, Zaidman, Zaidman, Zwehl   +30 more
core   +2 more sources

Noncompaction in Duchenne Muscular Dystrophy

Internal Medicine, 2016
Josef, Finsterer, Sinda, Zarrouk-Mahjoub
openaire   +6 more sources

Correction: Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy. [PDF]

Cell Death Dis
Fernández-Simón E, Tejedera-Villafranca A, Fernández-Garabay X, Clark J, Monceau A, Villalobos E, Cox D, Azcón JR, Fernández-Costa JM, Diaz-Manera J.   +9 more
europepmc   +1 more source