Results 11 to 20 of about 2,510,688 (301)

Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]

open access: yes, 2013
Spinal muscular atrophy (SMA) is a genetic disease which is characterized by muscle weakness and atrophy. The disease arises from mutations in the survival motor neuron 1 (SMN1) gene causing degeneration of spinal cord motor neurons.
Little, Daniel
core   +6 more sources

Research progress of muscular diseases

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2018
As the development of neuroscience technology and further realization of muscular diseases in Chinese doctors, there are a lot of clinical researches of muscular diseases in China during the period of Twelfth Five-Year Plan for National Economic and ...
Cheng ZHANG, Liang WANG
doaj   +1 more source

HyperCKemia as a biomarker for muscular diseases.

open access: yesLa Clinica terapeutica, 2010
An increased level of serum creatine kinase has been considered as an indirect sign of muscular disorders but it may be an indicator of other diseases (malignant hyperthermia, tumors or endocrinopathy). Some patients present with a stationary clinical condition and absence of muscular symptoms, in whom the unique abnormality is hyperCKemia that is not ...
Falsaperla, R.   +4 more
openaire   +6 more sources

Ageing with Muscular Disease [PDF]

open access: yesThe Open Nursing Journal, 2016
Background: The demographic development with an ageing population is predicted to be the next global public health challenge. Advances in medicine and the socioeconomic development have reduced mortality and morbidity due to infectious conditions and non-communicable diseases.
Martinsen, Bente, Dreyer, Pia
openaire   +3 more sources

Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]

open access: yes, 2006
The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Liu, X   +3 more
core   +6 more sources

Functional imaging in muscular diseases [PDF]

open access: yesInsights into Imaging, 2011
AbstractObjectiveThe development of morphological and functional imaging techniques has improved the diagnosis of muscular disorders.MethodsWith the use of whole-body magnetic resonance imaging (MRI) the possibility of imaging the entire body has been introduced.
Amarteifio, Erick   +3 more
openaire   +2 more sources

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

open access: yes, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +1 more source

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

open access: yesEpilepsia Open, 2023
Objective NPRL3‐related epilepsy (NRE) is an emerging condition set within the wide GATOR‐1 spectrum with a particularly heterogeneous and elusive phenotypic expression.
Alice Dainelli   +11 more
doaj   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

open access: yes, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

Exertional heat stroke-related rhabdomyolysis recurring twice in a 12-year-old boy athlete [PDF]

open access: yesPediatric Emergency Medicine Journal, 2022
Exertional heat stroke (EHS) is a life-threatening entity characterized by elevated core temperature with potential for multiorgan dysfunction. EHS-related rhabdomyolysis usually occurs in the early phase.
Soo Jin Kwon   +5 more
doaj   +1 more source

Home - About - Disclaimer - Privacy