Results 121 to 130 of about 1,124 (254)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco   +2 more
wiley   +1 more source

Premessa a [PDF]

open access: yesStoricamente, 2011
Bracco, Barbara
doaj  

Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis

open access: yesAnnals of Neurology, EarlyView.
Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi   +33 more
wiley   +1 more source

Mechanochemistry Meets Catalysis: Metal Complexes for Greener Organic Transformations

open access: yesAngewandte Chemie, EarlyView.
Mechanochemistry is redefining metal catalysis by controlling catalyst formulation, speciation, and deployment. This Review shows how milling, LAG, RAM, and TSE enable rapid metal‐complex assembly, distinctive catalytic manifolds, and scalable synthesis beyond solution chemistry.
Sourav Behera   +2 more
wiley   +2 more sources

Frequency‐ and Network‐Specific Changes in Functional Connectivity Reflect Pathophysiological Mechanisms across Parkinson's Disease Stages

open access: yesAnnals of Neurology, EarlyView.
Objective Parkinson's disease (PD) is increasingly conceptualized as a disorder of large‐scale brain networks, yet whether and how frequency‐specific functional connectivity reorganizes across stages remains poorly understood. In this study, we used high‐density electroencephalography (EEG) to characterize cortico‐cortical functional connectivity ...
Matteo Conti   +15 more
wiley   +1 more source

Unraveling G‐Quadruplex and i‐Motif Coexistence Within a Double‐Stranded DNA

open access: yesAngewandte Chemie, EarlyView.
The relative thermodynamic profiles of G‐quadruplex (G4), i‐Motif (iM), and the duplex counterpart tune the simultaneous G4 and iM formation within a double‐stranded (ds) DNA. ABSTRACT DNA can transiently fold into variable arrangements, which are expected to exploit regulatory functions. Guanine‐rich sequences can fold into G‐quadruplexes (G4s), while
Davide Auricchio   +7 more
wiley   +2 more sources

Editorial: Neurocomputational models of language processing. [PDF]

open access: yesFront Hum Neurosci
Hofmann MJ, Chang YN, Brouwer H, Zock M.
europepmc   +1 more source

Home - About - Disclaimer - Privacy