SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
All of work? All of life? Reconceptualising work‐life balance for the 21st century [PDF]
Clare Kelliher +2 more
openalex +1 more source
Letter to the Editor Regarding "Work-Life Balance in Pediatric Orthopaedics: The Role of the Leaders". [PDF]
Trionfo A.
europepmc +1 more source
Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey +2 more
wiley +1 more source
Různé tváře politik péče. Zpráva z workshopu Work-life Balance and Policies of Care [PDF]
Jaroslava Hasmanová Marhánková
doaj
Work withdrawal behavior and its associations with perceived stress and work-life balance among nurses: a multicenter cross-sectional study. [PDF]
Zhou W +6 more
europepmc +1 more source
Real‐World Investigation of Satralizumab in Patients With Neuromyelitis Optica Spectrum Disease
ABSTRACT Objective Satralizumab, a monoclonal antibody targeting the interleukin‐6 receptor, has demonstrated efficacy in clinical trials for neuromyelitis optica spectrum disorder (NMOSD). However, its real‐world effectiveness and safety compared to conventional immunosuppressive therapies remain uncertain.
Li‐Tsung Lin +2 more
wiley +1 more source
Work Notifications and Work-Life Balance: What TPS Supervisors Experienced in the 2024 Elections?
Arya Budi Sutopo
openalex +2 more sources
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Ženy a kombinace rodiny a práce v historických výzkumech z období socialismu [PDF]
Marie Pospíšilová
doaj

