Results 141 to 150 of about 304,862 (304)
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims To investigate its potential role as a marker of disease severity in facioscapulohumeral dystrophy (FSHD), this study examined the association between whole‐body phase angle (PhA) and clinically assessed severity in FSHD patients.
Oscar Crisafulli +7 more
wiley +1 more source
Sociodemographic and Clinical Profile of Adult Males With Duchenne Muscular Dystrophy
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Due to improvements in clinical care, individuals with Duchenne muscular dystrophy (DMD) are living into adulthood, but little has been published about adults with DMD. We describe key characteristics of adults with DMD using US population‐based surveillance data.
Manju Jayasimha Pula Jayaram +12 more
wiley +1 more source
Emergencies in Amyotrophic Lateral Sclerosis
Muscle &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
Background:Patients with Duchenne muscular dystrophy (DMD) are at high risk of endocrine and bone health complications resulting from the high glucocorticoid (GC) doses used to treat this condition.
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Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso +4 more
wiley +1 more source
Muscle &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
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Obesity, EarlyView.ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee +2 more
wiley +1 more source
Eteplirsen in the treatment of Duchenne muscular dystrophy
, 2017 Kenji Rowel Q Lim,1 Rika Maruyama,1 Toshifumi Yokota1,2 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 2The Friends of Garrett Cumming Research & Muscular Dystrophy Canada, HM Toupin Neurological Science ...
Lim KRQ, Maruyama R, Yokota T
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Prenatal Diagnosis, EarlyView.ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin +10 more
wiley +1 more source