Results 51 to 60 of about 3,828 (168)

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

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 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

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

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

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

Whole Body Phase Angle as a Promising Marker of Disease Severity in Facioscapulohumeral Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims To investigate its potential role as a marker of disease severity in facioscapulohumeral dystrophy (FSHD), this study examined the association between whole‐body phase angle (PhA) and clinically assessed severity in FSHD patients.
Oscar Crisafulli, Renato Baptista, Andi Nuredini, Matteo Fortunati, Luca Grattarola, Rossella Tupler, Anna Odone, Giuseppe D'Antona   +7 more
wiley   +1 more source

Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD

Molecular Therapy: Methods & Clinical Development, 2018
RNAi emerged as a prospective molecular therapy nearly 15 years ago. Since then, two major RNAi platforms have been under development: oligonucleotides and gene therapy.
Lindsay M. Wallace, Nizar Y. Saad, Nettie K. Pyne, Allison M. Fowler, Jocelyn O. Eidahl, Jacqueline S. Domire, Danielle A. Griffin, Adam C. Herman, Zarife Sahenk, Louise R. Rodino-Klapac, Scott Q. Harper   +10 more
doaj   +1 more source

A Comment on “Muscle Xenografts Reproduce Key Molecular Features of Facioscapulohumeral Muscular Dystrophy”: What Is New and What Has Already been Done and Reported but Was Not Quoted?

Cell Transplantation, 2020
A study was recently published that sought to develop an in vivo model of facioscapulohumeral muscular dystrophy by transplanting muscle precursor cells from a patient into immunodeficient mice.
Daniel Skuk, Jacques P Tremblay
doaj   +1 more source

Facial paresis as the first sign in atypical facioscapulohumeral muscular dystrophy

Otolaryngology Case Reports, 2022
Background: Facioscapulohumeral muscular dystrophy (FSHD) is the one of the most common types of muscular dystrophy. We present a retrospective case description of a patient with late-onset, atypical FSHD and provide an overview of the clinical history ...
Nneoma S. Wamkpah, John J. Chi
doaj   +1 more source