The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model. [PDF]
Ann NeurolObjective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Rawlins LE +23 more
europepmc +2 more sources
Fluoroscopic guidance for bulla identification during ventral bulla osteotomy in eight French bulldogs. [PDF]
Vet Rec OpenAbstract Objective To describe the technique and outcome of fluoroscopy to guide bulla identification in French bulldogs during ventral bulla osteotomy. Materials and methods Medical records of eight French bulldogs with otitis media that underwent a fluoroscopic‐guided ventral bulla osteotomy between January 2020 and June 2023 were reviewed ...
Lu HY +3 more
europepmc +2 more sources
O indyferentyzmie religijnym – Kazanie skrzatuskie na „Trójcę Świętą 1850 r.”
Rocznik Skrzatuski, 2023 The article is a presentation of another text (draft) of the sermon from year 1850, taken from the collection of preaching manuscripts, which are stored in the archives of the parish and the sanctuary of Our Lady of Sorrows in Skrzatusz.
Krzysztof Zadarko
doaj +1 more source
Rare GNAO1 Variant Presenting with Deep Brain Stimulation-Responsive Jaw-Opening Dystonia. [PDF]
Mov Disord Clin PractMovement Disorders Clinical Practice, Volume 12, Issue 8, Page 1196-1199, August 2025.
Maass F +4 more
europepmc +2 more sources
Oblicza świętości Ottona z Bambergu i płynące z nich przesłania dla współczesnych ludzi
Studia Koszalińsko-Kołobrzeskie, 2023 The aim of this presentation was to show the value of the holiness of Otto of Bamberg for the modern generation of people. The implementation of such a goal could not fail to begin with the disclosure of the supernatural conditions of holiness, i.e.
Henryk Wejman
doaj +1 more source
Czy art. 26a ustawy o odpadach pomoże w walce z nielegalnym gromadzeniem odpadów?
Prawne Problemy Górnictwa i Ochrony Środowiska, 2020 W wyniku niedawnej nowelizacji ustawy o odpadach dodany został art. 26a, który umożliwia organom administracji zastępcze usunięcie odpadów z miejsc nieprzeznaczonych do ich składowania i magazynowania.
Paulina Biskup
doaj +1 more source
Versatile Magneto-Dielectric Response of Epitaxial Thin Films of the High Entropy Oxide Perovskite Nd(Cr<sub>0.2</sub>Mn<sub>0.2</sub>Fe<sub>0.2</sub>Co<sub>0.2</sub>Ni<sub>0.2</sub>)O<sub>3</sub>. [PDF]
Adv MaterThe magnetic high entropy oxide perovskite Nd(Cr0.2Mn0.2Fe0.2Co0.2Ni0.2)O3 exhibits a substantially large dielectric constant (εr) at room temperature, which shows distinct anionic and cationic contributions in the form of zero and finite bias peaks, respectively, down to its magnetic transition temperature (Tmag).
Capu R +19 more
europepmc +2 more sources
Studia Koszalińsko-Kołobrzeskie, 2020 The purpose of this article was to show the value of the spirituality of St. Andrzej Bobola for the modern generation of people. The implementation of such a specific goal could not begin without revealing the essential elements of the spirituality of ...
Henryk Wejman
doaj +1 more source