Results 21 to 30 of about 213,623 (266)
Inflammation in ALS and SMA: Sorting out the good from the evil
Neurobiology of Disease, 2010 Indices of neuroinflammation are found in a variety of diseases of the CNS including amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).
Dimitra Papadimitriou +5 more
doaj +1 more source
Cell Reports, 2013 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and possibly other RNPs.
Sarah Tisdale +7 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen +23 more
wiley +1 more source
Acta Neuropathologica CommunicationsDysregulation of the TAR DNA-binding protein 43 (TDP-43), including intraneuronal cytoplasmic mislocalisation and aggregation is a feature of multiple neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia
Alison L. Hogan +11 more
doaj +1 more source
ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function
Nature Communications, 2016 The mechanism by which FUS mutations cause familial ALS remains unclear. Here, the authors use mouse transgenic models to show that a toxic gain-of-function underlies motor neuron degeneration, and that the toxicity of mutant FUS does not depend on a ...
Aarti Sharma +9 more
doaj +1 more source
Motor neurons and the generation of spinal motor neuron diversity [PDF]
Frontiers in Cellular Neuroscience, 2014 Motor neurons (MNs) are neuronal cells located in the central nervous system (CNS) controlling a variety of downstream targets. This function infers the existence of MN subtypes matching the identity of the targets they innervate. To illustrate the mechanism involved in the generation of cellular diversity and the acquisition of specific identity, this
openaire +3 more sources
Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens.
Matthew T. McEvoy +5 more
wiley +1 more source
Scientific ReportsThis study aims to identify key predictors of fatigue in patients with amyotrophic lateral sclerosis (ALS) and examine the interaction of physiological, psychological, and social factors to inform management strategies.
Fangfang Cai +8 more
doaj +1 more source
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Secondary hyperparathyroidism (SHPT) is a common complication in patients receiving maintenance dialysis, driven by calcium and phosphate metabolism disturbances. Calcimimetics are central to the management of SHPT by enhancing calcium‐sensing receptor sensitivity and reducing parathyroid hormone secretion.
Fumihiko Koiwa +3 more
wiley +1 more source
Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7
Molecular Therapy: Nucleic Acids, 2023 Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND).
Yu-Ting Huang +8 more
doaj +1 more source