Results 61 to 70 of about 5,041 (194)

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 1078-1083, May 2026.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy

Open Medicine
Statin use can lead to various muscle-related issues, including benign creatine kinase (CK) elevations, myalgias, toxic myopathies, rhabdomyolysis, and immune-mediated necrotizing myositis (IMNM), which primarily affects older males.
Braun Andreas Albert, Atiya Monika, Göhner Katja, Hortobagyi Tibor, Burkhardt Tobias, Schreiner Bettina   +5 more
doaj   +1 more source

Melt Electrowriting High Resolution Poly(ethylene‐co‐vinyl acetate) Scaffolds for Soft Tissue Engineering

Advanced Healthcare Materials, Volume 15, Issue 17, 8 May 2026.
This work pioneers melt electrowriting (MEW) of polyethylene vinyl acetate (PEVA) to fabricate ultra‐compliant, high‐resolution scaffolds. By integrating microscale precision with soft tissue‐like biomechanics, PEVA overcomes stiffness‐driven limitations of conventional MEW polymers, establishing a mechanically biomimetic platform for soft tissue ...
Finn Snow, Darcy De Rauch, Lilith Mabel Caballero Aguilar, Darcy Millett, Jasley Wilding McBride, David R Nisbet, Magdalena Kita, Elena Pirogova, Robert Michail Ivan Kapsa, Anita Quigley   +9 more
wiley   +1 more source

MiRNA modulation in FSHD myogenesis.

, 2014
A) DEseq analysis of miRNAs differentially expressed in FSHD myotubes vs FSHD myoblasts (FSHD differentiation).
Raffaella Meneveri (25726), Giulia Soldà (393631), Francesca Roma (640472), Raffaella Picco (640471), Stéphanie François (5660794), Enrico Ginelli (25727), Veronica Colangelo (640470)   +6 more
core   +1 more source

DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophy. [PDF]

PLoS ONE, 2011
Facioscapulohumeral muscular dystrophy (FSHD) is linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35.2 from 11-100 copies to 1-10 copies.
Benjamin D Pope, Koji Tsumagari, Dana Battaglia, Tyrone Ryba, Ichiro Hiratani, Melanie Ehrlich, David M Gilbert   +6 more
doaj   +1 more source

Growing up with FSHD. Characteristics of early-onset FSHD and childhood FSHD [PDF]

, 2020
Promotor : Engelen, B.G.M. van Co-promotores : Erasmus, C.E., Voermans, N.C.
openaire  

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

Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele

Epigenetics & Chromatin, 2018
Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) has an autosomal dominant pattern of inheritance and primarily affects skeletal muscle.
Premi Haynes, Karol Bomsztyk, Daniel G. Miller   +2 more
doaj   +1 more source

Cellular and animal models for facioscapulohumeral muscular dystrophy

Disease Models & Mechanisms, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound
Alec M. DeSimone, Justin Cohen, Monkol Lek, Angela Lek   +3 more
doaj   +1 more source

Therapeutic Gene Editing: DNA Repair Pathways, Emerging Editors, and Clinical Progress

iNew Medicine, Volume 2, Issue 1, March 2026.
ABSTRACT The field of gene editing has evolved rapidly over the past decade, progressing from programmable zinc‐finger nucleases (ZFNs) and transcription activator‐like effector nucleases (TALENs) to the widespread adoption of CRISPR‐Cas systems. First‐generation editors catalyzed genome engineering by introducing targeted double‐strand breaks (DSBs ...
Li‐Kuang Tsai, Youcai Xiong, Dongqi Liu, Dongshan Yang, Jifeng Zhang, Jie Xu, Renzhi Han, Y. Eugene Chen   +7 more
wiley   +1 more source