Results 71 to 80 of about 4,991 (181)

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
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

The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies

Frontiers in Neurology, 2019
Background: The inclusion of resistance training in the treatment and management of muscular dystrophy has previously been discouraged, based on mainly anecdotal evidence.
Emma L. Bostock, Dawn N. O'Dowd, Carl J. Payton, Dave Smith, Paul Orme, Bryn T. Edwards, Christopher I. Morse   +6 more
doaj   +1 more source

ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru, Marion Onnée, Sergey Nikitin, Amelia Dobrescu, Gianmarco Severa, Aysylu Murtazina, Andoni Urtizberea, Jean‐Pascal Lefaucheur, Robert‐Yves Carlier, Corinne Metay, Edoardo Malfatti   +10 more
wiley   +1 more source

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression

Cell Reports, 2019
Summary: The DUX4 transcription factor is briefly expressed in the early cleavage-stage embryo, where it induces an early wave of zygotic gene transcription, whereas its mis-expression in skeletal muscle causes the muscular dystrophy facioscapulohumeral ...
Rebecca Resnick, Chao-Jen Wong, Danielle C. Hamm, Sean R. Bennett, Peter J. Skene, Sandra B. Hake, Steven Henikoff, Silvère M. van der Maarel, Stephen J. Tapscott   +8 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

Teaching NeuroImages: Coats disease revealing facioscapulohumeral muscular dystrophy [PDF]

, 2016
A 21-year-old Brazilian woman presented with mild facial muscle weakness, scapular winging and an asymmetric shoulder girdle, and peroneal weakness. Medical history disclosed mildly symptomatic Coats disease (CD) (figure).
Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP], Dias, Renan Braido [UNIFESP], Bulle Oliveira, Acary Souza [UNIFESP], de Rezende Batistella, Gabriel Novaes [UNIFESP], Sgobbi de Souza, Paulo Victor [UNIFESP]   +4 more
core   +1 more source

The facioscapulohumeral muscular dystrophy – health index: Italian validation of a disease-specific measure of symptomatic burden

, 2023
The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy – Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating, and testing this instrument in an Italian cohort.
Valeria Sansone (5429501), Maria Beretta (5769839), Chad Heatwole (8828888), Maria Chiara Frisoni (15551647), Jacopo Casiraghi (15551638), Fatmira Beshiri (15551644), Felicia Iossa (15551650), Elena Carraro (7370009), Susanna Pozzi (15551635), Stefano Becchiati (15551641), Andrea Lizio (7820207), Lucia Catherine Greco (9264863)   +11 more
core   +1 more source

Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies

iScience
Summary: The routine need for myonuclear turnover in skeletal muscle, together with more sporadic demands for hypertrophy and repair, are performed by resident muscle stem cells called satellite cells.
Elise N. Engquist, Anna Greco, Leo A.B. Joosten, Baziel G.M. van Engelen, Christopher R.S. Banerji, Peter S. Zammit   +5 more
doaj   +1 more source

The development of myasthenia gravis in a patient with facioscapulohumeral muscular dystrophy: case report and literature review

Neurology International, 2019
The co-existence of facioscapulohumeral muscle dystrophy (FSHD) and myasthenia gravis (MG) is very rare and few cases have been described in the literature.
Feryal Nauman, Muhammad Fawwad Ahmed Hussain, Ahmet Burakgazi   +2 more
doaj   +1 more source