Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
Exploring the associations between physical activity, self-esteem, grit, and sense of coherence among university students. [PDF]
Xu K, Jiang H, Wang H.
europepmc +1 more source
The SuperCam Instrument onboard Perseverance: Overview of efforts compiled for Mars X conference [PDF]
Cousin, A. +39 more
openaire +1 more source
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source
Secretary's message for Clinical Practice Guidelines issue. [PDF]
Pattojoshi A.
europepmc +1 more source
Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay +15 more
wiley +1 more source
Grittier and More Hopeful About the Future? A Nine-Month School-Based Longitudinal Study on Grit and Adolescent Possible Selves. [PDF]
Zhu S, Bi C.
europepmc +1 more source
“Low‐Positive” MOG‐IgG Cases Among Adults With a First Event Suggestive of Multiple Sclerosis
ABSTRACT Objective To determine the prevalence and clinical characteristics of patients with “low‐positive” (LP) MOG‐IgG (titres 1:160–1:320) among adults with a first demyelinating event (FDE) suggestive of multiple sclerosis (MS). Methods From the Barcelona CIS inception cohort, we included adult patients with serum collected ≤ 6 months from the FDE.
Javier Villacieros‐Álvarez +29 more
wiley +1 more source
The Association Between Inclusive Leadership and Job Performance in Nurses: Exploring the Mediation Roles of Grit and Work Engagement Based on a Cross-Sectional Study. [PDF]
Wen Y +6 more
europepmc +1 more source
ABSTRACT Objective To determine whether discontinuing anti‐CD20 therapy in people with relapsing‐onset MS aged over 50 is associated with an increased risk of relapse, inflammatory activity, confirmed disability accrual, and serious infection compared with continuing therapy.
Alexia Moukhine +40 more
wiley +1 more source

