Results 231 to 240 of about 1,113,334 (249)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals 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

Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia

open access: yesAnnals 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

Maternity care professionals' views on good counselling for prenatal anomaly screening: a qualitative inquiry. [PDF]

open access: yesBMC Med Educ
Kors JM   +9 more
europepmc   +1 more source

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez   +12 more
wiley   +1 more source

National, regional, and provincial prevalence of age-related macular degeneration in China in 2020: an updated systematic review and modelling study. [PDF]

open access: yesJ Glob Health
Wu J   +8 more
europepmc   +1 more source

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