Cargando…

The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)

BACKGROUND AND OBJECTIVES: Facioscapulohumeral muscular dystrophy (FHSD) is a debilitating inherited muscle disease for which various therapeutic strategies are being investigated. Thus far, little attention has been given in FSHD to the development of scientifically sound outcome measures fulfillin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mul, Karlien, Hamadeh, Tatiana, Horlings, Corinne G. C., Tawil, Rabi, Statland, Jeffrey M., Sacconi, Sabrina, Corbett, Alastair J., Voermans, Nicol C., Faber, Catharina G., van Engelen, Baziel G. M., Merkies, Ingemar S. J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Muscle and MNJ Disorders
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251612/ https://www.ncbi.nlm.nih.gov/pubmed/33838063 http://dx.doi.org/10.1111/ene.14863

Ejemplares similares

Rasch analysis to evaluate the motor function measure for patients with facioscapulohumeral muscular dystrophy
por: Mul, Karlien, et al.
Publicado: (2020)

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers
por: Kruijt, N., et al.
Publicado: (2020)

Muscle involvement in SARS‐CoV‐2 infection
por: Pitscheider, Lea, et al.
Publicado: (2020)

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders
por: van den Bersselaar, Luuk R., et al.
Publicado: (2022)

Thymectomy in myasthenia gravis: “The real world” experience beyond studies
por: Waheed, Waqar, et al.
Publicado: (2022)

Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
por: Garibaldi, Matteo, et al.
Publicado: (2021)

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers
por: Mul, Karlien, et al.
Publicado: (2018)

Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy
por: Teeselink, Sjan, et al.
Publicado: (2022)

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)
por: Goselink, Rianne J. M., et al.
Publicado: (2016)

Characterizing the face in facioscapulohumeral muscular dystrophy
por: Loonen, T. G. J., et al.
Publicado: (2020)

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
por: LoRusso, Samantha, et al.
Publicado: (2019)

The FSHD muscle–blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy
por: Banerji, Christopher R S, et al.
Publicado: (2023)

Semi‐automated Rasch analysis using in‐plus‐out‐of‐questionnaire log likelihood
por: Wijayanto, Feri, et al.
Publicado: (2020)

Semi-automated Rasch analysis with differential item functioning
por: Wijayanto, Feri, et al.
Publicado: (2022)

Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome
por: Vincenten, Sanne C.C., et al.
Publicado: (2023)

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)
por: Ducharme-Smith, Allison, et al.
Publicado: (2021)

Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale
por: Hermans, Mieke C. E., et al.
Publicado: (2015)

A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD)
por: Petek, Lisa M., et al.
Publicado: (2016)

The socioeconomic burden of facioscapulohumeral muscular dystrophy
por: Blokhuis, Anna M., et al.
Publicado: (2021)

Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers
por: van den Heuvel, Anita, et al.
Publicado: (2022)

Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial
por: Voet, Nicoline BM, et al.
Publicado: (2010)

Current Therapeutic Approaches in FSHD
por: Wang, Leo H., et al.
Publicado: (2021)

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
por: Lemmers, Richard J.L.F., et al.
Publicado: (2012)

Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease
por: Vincenten, Sanne C. C., et al.
Publicado: (2021)

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
por: Wood, Libby, et al.
Publicado: (2014)

Meeting report: the 2021 FSHD International Research Congress
por: Jagannathan, Sujatha, et al.
Publicado: (2022)

Revisiting Frank–Starling: regulatory light chain phosphorylation alters the rate of force redevelopment (k (tr)) in a length‐dependent fashion
por: Toepfer, Christopher N., et al.
Publicado: (2016)

Impaired skeletal muscle performance as a consequence of random functional capillary rarefaction can be restored with overload‐dependent angiogenesis
por: Tickle, Peter G, et al.
Publicado: (2020)

Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies
por: Greco, Anna, et al.
Publicado: (2021)

Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients
por: Konstantonis, Dimitrios, et al.
Publicado: (2022)

Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD): A Systematic Review
por: Aguirre, Alex S, et al.
Publicado: (2023)

ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain
por: Bulla, M., et al.
Publicado: (2018)

Immunohistochemical Characterization of FacioscapulohumeralMuscular Dystrophy Muscle Biopsies
por: Statland, Jeffrey M., et al.
Publicado: (2015)

Abnormal skeletal muscle blood flow, contractile mechanics and fibre morphology in a rat model of obese‐HFpEF
por: Espino‐Gonzalez, Ever, et al.
Publicado: (2021)

Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report
por: Iodice, Rosa, et al.
Publicado: (2020)

Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy
por: Lassche, Saskia, et al.
Publicado: (2020)

Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients
por: Signorelli, M., et al.
Publicado: (2020)

Impaired structural and functional regeneration of skeletal muscles from β2-adrenoceptor knockout mice
por: Silva, M T, et al.
Publicado: (2014)

The determinants of transverse tubular volume in resting skeletal muscle
por: Sim, Jingwei, et al.
Publicado: (2014)

Statin myalgia is not associated with reduced muscle strength, mass or protein turnover in older male volunteers, but is allied with a slowing of time to peak power output, insulin resistance and differential muscle mRNA expression
por: Mallinson, Joanne E., et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_udogc16jjs9c5lpa4e8ehipn6m