Results 41 to 50 of about 3,619 (165)

Genetics of Facioscapulohumeral Dystrophy

Pediatric Neurology Briefs, 1996
The relationship of phenotype to genotype in a clinically and genetically well defined population of 157 affected patients and 62 kindreds with facioscapulohumeral muscular dystrophy (FSHD) was examined at the University of Rochester School of Medicine ...
J Gordon Millichap
doaj   +1 more source

Cochlear Function in Facioscapulohumeral Muscular Dystrophy

Otology & Neurotology, 2007
Facioscapulohumeral muscular dystrophy (FSHD) is commonly associated with high-frequency hearing impairment. Our objective was to evaluate a group of normally hearing patients with FSHD using otoacoustic emissions.Prospective, randomized clinical trial.A tertiary University-based referral center in Athens, Greece.The study group consisted of a ...
Balatsouras, D.G., Korres, S., Manta, P., Panousopoulou, A., Vassilopoulos, D.   +4 more
openaire   +3 more sources

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry

Rare
Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and ...
Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans   +8 more
doaj   +1 more source

Refining Shoulder Diagnostics: A Technical Note on Scapular Physical Examination

Arthroscopy Techniques, EarlyView.
Abstract Normal scapulothoracic function relies on a delicate balance among several periscapular muscles and is essential for shoulder motion. Disturbance in this balance can lead to abnormal motion, which can impair shoulder function, leading to pain and discomfort.
Farah Selman, Nicholas Peter James Perry, Diego J. Restrepo, David Coleman, Joaquin Sanchez‐Sotelo   +4 more
wiley   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Time‐Efficient Interleaved Spin Density‐Weighted and Inversion Recovery 23Na MRI of the Human Calf Muscle at 7 T

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose Spin density‐weighted (SDW) and inversion recovery (IR) 23Na MRI provide different sodium contrasts with complementary information. Therefore, the aim was to develop a time‐efficient sequence scheme capable of providing both contrasts by acquiring SDW and IR 23Na MRI data within a single sequence without additional measurement time ...
Tobias Wilferth, Fiona Meyer, Jordan M. Höhn, Michael Uder, Armin M. Nagel   +4 more
wiley   +1 more source

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

Nature Communications, 2017
Facioscapulohumeral muscular dystrophy is a severe myopathy that is caused by abnormal activation of DUX4, and for which a suitable mouse model does not exist.
Darko Bosnakovski, Sunny S. K. Chan, Olivia O. Recht, Lynn M. Hartweck, Collin J. Gustafson, Laura L. Athman, Dawn A. Lowe, Michael Kyba   +7 more
doaj   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound

Muscle &Nerve, EarlyView.
ABSTRACT Aims Facioscapulohumeral muscular dystrophy (FSHD) is a genetic progressive muscle disorder often presenting with facial weakness. However, imaging studies specifically evaluating facial muscle involvement and its relationship with clinical severity remain limited. This preliminary study explored magnetic resonance imaging (MRI) and ultrasound
Federico Pistoia, Elena Faedo, Marta Macciò, Giovanni Marcenaro, Maria Elena Susi, Mehrnaz Hamedani, Veronica Caramellino, Sara Massucco, Andrea Francesco Maria Vollaro, Paola Mandich, Fabio Gotta, Riccardo Picasso, Federico Zaottini, Marina Grandis, Carlo Martinoli   +14 more
wiley   +1 more source