Results 31 to 40 of about 378,998 (299)

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

open access: yes, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R   +21 more
core   +1 more source

Spinal Muscular Atrophy

open access: yesSeminars in Neurology, 2001
The spinal muscular atrophies are a group of mostly inherited disorders selectively affecting the lower motor neuron. There is a wide degree of clinical and genetic heterogeneity that must be taken into account when giving prognostic information. Autosomal recessive childhood proximal SMA is the commonest form and is due to mutations in a gene encoding
Talbot, K, Davies, K
openaire   +3 more sources

Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

open access: yesAnnals of Clinical and Translational Neurology, 2022
Objective Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated.
Camilla Binz   +20 more
doaj   +1 more source

The SMN protein is a key regulator of nuclear architecture in differentiating neuroblastoma cells [PDF]

open access: yes, 2009
The cell nucleus contains two closely related structures, Cajal bodies (CBs) and gems. CBs are the first site of accumulation of newly assembled splicing snRNPs (small nuclear ribonucleoproteins) following their import into the nucleus, before they form ...
Nicholas P. Kinnear   +9 more
core   +1 more source

Rehabilitation in spinal muscular atrophy

open access: yesMedycyna Ogólna i Nauki o Zdrowiu, 2021
Introduction and objective Spinal Muscular Atrophy (SMA) is a disease of the nervous system caused by the degeneration of motor neurons in the spinal cord. The disease is caused by a homozygous deletion of the motor neuron survival gene (SMN1),
Joanna Iłżecka
doaj   +1 more source

Comparative Evaluation of Hemodiafiltration, Hemoperfusion, and Standard Hemodialysis on Efficacy, Inflammatory Control, Dialysis Adequacy, and Safety in End‐Stage Renal Disease: A Prospective Observational Study

open access: yesTherapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Chronic micro‐inflammation in patients with end‐stage renal disease (ESRD) is a significant driver of cardiovascular complications and diminished quality of life. While standard hemodialysis (SHD) effectively manages small‐molecule clearance, its ability to remove medium‐to‐large uremic toxins—the primary catalysts of systemic ...
Hongwei Zuo   +5 more
wiley   +1 more source

G9a promotes muscular atrophy in chronic aging and acute denervation

open access: yesAnimal Diseases
Muscular atrophy accompanied by neuromuscular junction (NMJ) denervation is often observed after long-term chronic diseases and aging and is associated with substantial morbidity and mortality.
Ying Jin   +4 more
doaj   +1 more source

Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]

open access: yes, 2014
As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
core   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

open access: yesFEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

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