Results 181 to 190 of about 56,165 (274)

Inhibition of TRPC3-Nox2 Complex Formation Ameliorates Skeletal Muscle Atrophy. [PDF]

Antioxidants (Basel)
Kato Y, Wu D, Ito T, Atef Y, Ayukawa K, Mi X, Nishiyama K, Nishimura A, Nishida M.   +8 more
europepmc   +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

Metabolic Complications and Ultrasound-Detected Liver Abnormalities in Paediatric Patients With Duchenne Muscular Dystrophy. [PDF]

Pediatr Obes
Śledzińska K, Polat K, Kuchta A, Dulak J, Łoboda A, Florczyk-Soluch U, Szczyrski J, Bautembach J, Meyer-Szary J, Wernio E, Lemska A, Pilarska E, Mazurkiewicz-Bełdzińska M, Irga-Jaworska N, Wierzba J.   +14 more
europepmc   +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

Total intravenous anesthesia for cardiac transplantation in a teenager with Becker muscular dystrophy: A case report. [PDF]

Saudi J Anaesth
Vilaça JLC, do Nascimento DR, Rocha AVC, Delgado MA.   +3 more
europepmc   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 696-705, May 2026.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Molecular Mechanisms and Therapeutic Strategies in Heart Failure Due to Dystrophin Deficiency: A Comprehensive Review. [PDF]

Rev Cardiovasc Med
Yu W, Wang W, Luo F, Zhao Y, Wu Q, Li P.
europepmc   +1 more source

Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion Encompassing <i>DMD</i> Exon 5. [PDF]

Genes (Basel)
Mcleay L, Hardinge S, Minor KM, Friedenberg SG, Cullen JN, Guo LT, Shelton GD.   +6 more
europepmc   +1 more source

Assessing rare disease understanding: a novel disease readiness level framework. [PDF]

Orphanet J Rare Dis
Kitahara K, Kano S.
europepmc   +1 more source

Dystrophin Loss in Engineered Heart Tissues Recapitulates Clinically Relevant Aspects of Dystrophic Cardiomyopathy. [PDF]

J Biomech Eng
Goldstein AJ, Leahy TP, Mack DL, Sniadecki NJ.   +3 more
europepmc   +1 more source