Results 111 to 120 of about 56,560 (289)

The relative frequency of common neuromuscular diagnoses in a reference center

Arquivos de Neuro-Psiquiatria
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests ...
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista Junior, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas   +12 more
doaj   +1 more source

Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy

Science Translational Medicine, 2020
Genome-wide CRISPR-Cas9 screens identify druggable pathways associated with facioscapulohumeral muscular dystrophy. Screening for survival Facioscapulohumeral muscular dystrophy (FSHD) is caused by altered expression of DUX4, a gene important during ...
A. Lek, Yuanfan Zhang, K. Woodman, Shushu Huang, A. DeSimone, Justin Cohen, Vincent Ho, J. Conner, Lillian Mead, Andrew Kodani, A. Pakuła, Neville E. Sanjana, O. King, Peter L Jones, K. Wagner, M. Lek, L. Kunkel   +16 more
semanticscholar   +1 more source

[Facioscapulohumeral muscular dystrophy]. [PDF]

Nederlands tijdschrift voor tandheelkunde, 2010
Facioscapulohumeral muscular dystrophy is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. It is an autosomal dominant heriditary disease, caused by a contraction of a repetitive DNA element at the end of the long arm of chromosome 4.
Wilbers, J., Frants, R.R., Engelen, B.G.M. van, Padberg, G.W.A.M., Maarel, S.M. van der   +4 more
openaire   +2 more sources

Spatially Resolved Profiling of Compartmentalized Muscle and Brain Inflammation

European Journal of Immunology, Volume 55, Issue 12, December 2025.
This review summarizes emerging spatially resolved multi‐omics approaches revealing organized cell–cell interactions in skeletal muscle and brain inflammation. These tools uncover radiating molecular programs and niche‐specific immunopathology that shape cellular reactivity and vulnerability.
Thorge Dobbertin, Lucas Schirmer
wiley   +1 more source

Dynamic MR of Muscle Contraction During Electrical Muscle Stimulation: Potential Application to the Evaluation of Neuromuscular Diseases

NMR in Biomedicine, Volume 38, Issue 12, December 2025.
This exploratory study investigated dynamic MRI during neuromuscular electrical stimulation (NMES) as a biomarker for muscular diseases. Fourteen healthy controls and ten patients with metabolic and myotonic myopathies underwent 3T MRI scanning. Results showed reduced strain and strain buildup rates in patients' soleus muscles compared to controls ...
Francesco Santini, Michele Giovanni Croce, Xeni Deligianni, Marta Brigid Maggioni, Matteo Paoletti, Leonardo Barzaghi, Niels Bergsland, Arianna Faggioli, Giulia Manco, Chiara Bonizzoni, Ning Jin, Sabrina Ravaglia, Anna Pichiecchio   +12 more
wiley   +1 more source

Upper girdle imaging in facioscapulohumeral muscular dystrophy.

PLoS ONE, 2014
BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination.
Giorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, Francesco Laschena, Pierfrancesco Ottaviani, Emanuele Leoncini, Stefania Boccia, Giuliana Galluzzi, Marco Pelliccioni, Marcella Masciullo, Roberto Frusciante, Eugenio Mercuri, Enzo Ricci   +12 more
doaj   +1 more source

The Roles of EDA2R in Ageing and Disease

Aging Cell, Volume 24, Issue 12, December 2025.
Elevated expression of the ectodysplasin A2 receptor (EDA2R) has been linked to ageing and disease. We appraise the roles of EDA2R in these processes, exploring mechanisms of action, biomarker potential and therapeutic relevance of EDA2R in multiple contexts. ABSTRACT Ageing is a complex biological process driven, in part, by inflammaging.
Gemma Farrington, Lauren Tonge, Tracy Branagan, Sud Sudirman, Chao Fang, Louis Luk, Serkan Kir, Marco Bolis, Ildus I. Ahmetov, Kehinde Ross   +9 more
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

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy

European Journal of Neurology, Volume 32, Issue 12, December 2025.
Muscle biopsies from patients across eight neuromuscular disorders and healthy controls were analyzed using immunofluorescence (IF) and immunoblot (WB) to evaluate the expression and localization of seven annexin proteins (A1, A2, A4, A5, A6, A7, A11).
Qi‐Fang He, Yu‐hua Lin, Ze‐ling Zheng, Ming‐hui Zeng, Xin Lin, Xin‐yi Liu, Kang‐yang, Q I‐jie Zhang, Min‐ting Lin, Ning Wang, Zhi‐qiang Wang, Feng Lin   +11 more
wiley   +1 more source

Morpho-Functional Macular Assessment in a Case of Facioscapulohumeral Muscular Dystrophy: Photoreceptor Degeneration as Possible Cause for Reduced Visual Acuity over Three Years of Follow-Up [PDF]

, 2022
Mariacristina Parravano, Eliana Costanzo, Lucilla Barbano, Pasquale Viggiano, Daniele De Geronimo, Giulio Antonelli, Vincenzo Parisi, Monica Varano, Lucia Ziccardi   +8 more
openalex   +1 more source