Results 131 to 140 of about 275,647 (194)

Advanced microscopic and histochemical techniques: diagnostic tools in the molecular era of myology

European Journal of Histochemistry, 2009
Over the past two centuries, myology (i.e. the basic and clinical science of muscle and muscle disease) has passed through 3 stages of development: the classical period, the modern stage and the molecular era.
G Meola
doaj   +1 more source

Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies [PDF]

, 2010
Includes bibliographical references (leaves 97-115).Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked, recessive muscle-wasting disorder affecting 1 in 3 500 live male births worldwide, for which only palliative care is available to date.
Esterhuizen, Alina
core   +1 more source

Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy

Case Reports in Neurological Medicine, 2012
A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of ...
Dominic B. Fee
doaj   +1 more source

Muscular Dystrophy- Facioscapulohumeral Dystrophy - A Rare Autosomal Dominant Disorder

Journal of Evolution of Medical and Dental Sciences, 2020
P. Baghel, Rajesh Kumar Kewat, G. Agrawal   +2 more
semanticscholar   +1 more source

Balance and walking in facioscapulohumeral muscular dystrophy: multiperspective assessment

, 2012
BACKGROUND: In the Facioscapulohumeral muscular dystrophy (FSHD), the association of ankle muscle impairment with knee, hip and abdominal weakness causes complex alterations of static (postural) and dynamic (walking) balance, increasing the risk of ...
Padua, Luca, Ricci, Enzo, Frusciante, Roberto, Aprile, Irene Giovanna   +3 more
core  

A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic

Molecular Therapy: Methods & Clinical Development
Facioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading ...
Katelyn Daman, Jing Yan, Annabelle Biscans, Dimas Echeverria, Taisia Shmushkovich, Alexey Wolfson, Julia F. Alterman, Anastasia Khvorova, Charles P. Emerson, Jr.   +8 more
doaj   +1 more source

Advances in imaging of brain abnormalities in neuromuscular disease

Therapeutic Advances in Neurological Disorders, 2019
Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj   +1 more source

Facioscapulohumeral Muscular Dystrophy (FSHD)

This is an introduction to Facioscapulohumeral Muscular Dystrophy (FSHD) and its causes, presentation, diagnosis, treatment, and ongoing related research.FSHD Global Research Foundation. (n.d.). What is FSHD? Retrieved from https://fshdglobal.org/what-is-
Rohith Erukulla; Brooke Johnson
core  

Diagnostic challenges in facioscapulohumeral muscular dystrophy [PDF]

, 2006
The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial ...
FIGARELLA D, LEMMERS R, PEREON Y, VAN DER MAAREL S, BOURGET I, DESNUELLE C., SALVIATI, LEONARDO, SACCONI S   +7 more
core  

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report

Frontiers in Genetics
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns.
Menglin Tan, Huiyi Huo, Jieming Feng, Chandi Wang, Suhua Jiang   +4 more
doaj   +1 more source