SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.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
Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil. [PDF]
Orphanet J Rare DisSilva IMW, Gil-da-Silva-Lopes VL.
europepmc +1 more source
Adolescent reproductive health services in Jimma City: Accessibility and utilization
, 2011 Ayalew Tegegn, Yeshigeta Gelaw
openalex +2 more sources
Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan +12 more
wiley +1 more source
Health Services Accessibility and Self-Reported Health Among Chinese Middle-Aged and Older Adults: Propensity Score Matching and Mixed-Effects Ordinal Logit Analysis. [PDF]
InquiryAi H, Shensa A, Linkov F.
europepmc +1 more source
Responsiveness of Health Systems: a Barometer of the Quality of Health Services [PDF]
In the health field, quality is a complex and multidimensional variable. The complexity is shown by different levels of quality, which provide a global picture of the performance of a health system: compliance with mandatory rules, compliance with ...
Ana-Lucia Ristea +3 more
core
Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown.
Sommer L. Amundsen‐Huffmaster +11 more
wiley +1 more source
Operacionalizando as categorias acesso e descentralização na análise de sistemas de saúde
Cadernos de Saúde PúblicaO artigo apresenta proposta de operacionalização das categorias acesso e descentralização em modelo de análise de sistemas de saúde. Admite a hipótese de que se o sistema de saúde é descentralizado, ele vai permitir maior acesso dos usuários ao sistema ...
Virginia Alonso Hortale +2 more
doaj