Results 191 to 200 of about 3,280,665 (275)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

open access: yesMovement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard   +33 more
wiley   +1 more source

Emergencies in Amyotrophic Lateral Sclerosis

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Emergencies are frequent in people living with amyotrophic lateral sclerosis (pALS), especially as the disease progresses, and can necessitate urgent evaluation and intervention. Progressive weakness in ALS inevitably increases fall risk, making discussion of fall prevention strategies integral to caring for pALS.
S. Pinar Uysal   +9 more
wiley   +1 more source

Systematic Review of Patient‐ and Observer‐Reported Outcomes of Fatigue in Pediatric Neuromuscular Disorders

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Fatigue is a burdensome symptom for pediatric populations with neuromuscular disorders, often assessed using patient‐ and observer‐reported outcomes. The three aims of this systematic review are to: (1) explore, summarize and critically appraise primary studies that measure fatigue in pediatric neuromuscular disorders using patient‐ and ...
Monica Marzouk   +6 more
wiley   +1 more source

Seven replicated genomic associations of myalgic encephalomyelitis/chronic fatigue syndrome: a biobank study

open access: yes
Slaughter J   +7 more
europepmc   +1 more source

The Post-COVID syndrome caused by excessive inflammation: pathogenesis, potential targets and therapeutic agents. [PDF]

open access: yesFront Pharmacol
Zhou T   +9 more
europepmc   +1 more source

Beyond Joint Hypermobility: Investigating Bladder Dysfunction in Hypermobile Ehlers‐Danlos Syndrome

open access: yesNeurourology and Urodynamics, EarlyView.
ABSTRACT Introduction and Objectives Hypermobile Ehlers‐Danlos Syndrome (hEDS) is the most common subtype of Ehlers‐Danlos Syndrome, a group of connective tissue disorders caused by collagen abnormalities. While musculoskeletal features of hEDS are well characterized, its impact on visceral organs, including the bladder, remains underexplored.
Marium Ansari   +5 more
wiley   +1 more source

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