Results 101 to 110 of about 6,612 (269)
Rethinking Mitochondrial Parkinson's Disease in the α‐Synuclein Seed Amplification Assays Era
Movement Disorders, EarlyView.
Marco Percetti +3 more
wiley +1 more source
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira +19 more
wiley +1 more source
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley +1 more source
Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic ...
Lea Leonardis +2 more
doaj
Chronicity of Back Pain: Predisposing Factor of Normal Age-Related Axonal Degeneration
Back pain is extremely common in clinical setting. In the history, back pain has been believed to be seldom associated with clearly identifiable tissue damage or anatomical defect, but it is rather a normal part of life and aging.
Jun Chen
doaj +1 more source
Polyneuropathy - Diagnostic [PDF]
B, Schlotter-Weigel, D E, Pongratz
openaire +2 more sources
Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo +8 more
wiley +1 more source
Polyneuropathies--short and sweet
Complaints of sensory loss and (painful) tingling in a stocking distribution are not uncommon in primary care. These symptoms are especially troublesome while getting asleep.
Jenni, Walter, Eschle, Daniel
core
Inborn errors of immunity in children with neuroinflammation
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu +5 more
wiley +1 more source

