Results 41 to 50 of about 9,445 (236)

Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study

JMIR Formative Research, 2023
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disease. Its slow and variable progression makes the development of new treatments highly dependent on validated biomarkers that can quantify ...
Ahnjili Zhuparris, Ghobad Maleki, Ingrid Koopmans, Robert J Doll, Nicoline Voet, Wessel Kraaij, Adam Cohen, Emilie van Brummelen, Joris H De Maeyer, Geert Jan Groeneveld   +9 more
doaj   +1 more source

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

Journal of Medical Genetics, 2021
Background Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles.
Richard J.L.F. Lemmers, Patrick J. van der Vliet, Ana Blatnik, Judit Balog, Janez Zidar, Don Henderson, Rianne J.M. Goselink, Stephen J. Tapscott, Nicol C. Voermans, Rabi Tawil, George W. Padberg, Baziel G.M. van Engelen, Silvère M. van der Maarel   +12 more
openalex   +3 more sources

SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

Communications Biology, 2023
Germline mutations in SMCHD1 and LRIF1 can lead to inappropriate expression of the D4Z4 repeat-encoded DUX4 gene. Here alternative modes of repression of D4Z4 by SMCHD1 and LRIF1 are identified, relevant for understanding facioscapulohumeral muscular ...
D. Šikrová, A. M. Testa, I. Willemsen, Anita van den Heuvel, S. Tapscott, L. Daxinger, J. Balog, S. M. van der Maarel   +7 more
semanticscholar   +1 more source

Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

EMBO Molecular Medicine, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal muscle weakness and wasting. FSHD is linked to epigenetic derepression of the subtelomeric D4Z4 macrosatellite at chromosome 4q35.
Christopher R S Banerji, Peter S Zammit
doaj   +1 more source

3D finite element models reveal regional fatty infiltration modulates tibialis anterior force generating capacity in FSHD. [PDF]

PLoS One
McCrady A, Friedman S, Wang L, Shaw D, Tawil R, Statland J, Tapscott S, Blemker S.   +7 more
europepmc   +2 more sources

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families

Clinical Genetics, 2023
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%–30% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced D4Z4 allele that is not present in either of the parents) and ...
C. Strafella, L. Colantoni, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, G. Primiano, C. Sancricca, G. Ricci, G. Siciliano, Carlo Caltagirone, M. Filosto, G. Tasca, Enzo Ricci, R. Cascella, E. Giardina   +14 more
semanticscholar   +1 more source

Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns.

PLoS ONE, 2011
BackgroundDetermine global gene dysregulation affecting 4q-linked (FSHD-1) and non 4q-linked (FSHD-2) cells during early stages of myogenic differentiation.
Stefania Cheli, Stephanie François, Beatrice Bodega, Francesco Ferrari, Elena Tenedini, Enrica Roncaglia, Sergio Ferrari, Enrico Ginelli, Raffaella Meneveri   +8 more
doaj   +1 more source

Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene

Skeletal Muscle, 2023
Background Hypoxia is known to modify skeletal muscle biological functions and muscle regeneration. However, the mechanisms underlying the effects of hypoxia on human myoblast differentiation remain unclear.
T. Nguyen, Lise Paprzycki, Alexandre Legrand, Anne-Émilie Declèves, Philipp Heher, Maelle Limpens, Alexandra Belayew, C. Banerji, Peter S. Zammit, A. Tassin   +9 more
semanticscholar   +1 more source

A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D

Orphanet Journal of Rare Diseases, 2023
Background and objective The diagnosis of rare diseases (RDs) is often challenging due to their rarity, variability and the high number of individual RDs, resulting in a delay in diagnosis with adverse effects for patients and healthcare systems.
D. Emmert, N. Szczypien, T. Bender, L. Grigull, A. Gass, C. Link, F. Klawonn, R. Conrad, M. Mücke, J. Sellin   +9 more
semanticscholar   +1 more source

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
core   +2 more sources